diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 2af24ff3..a11fb70f 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/doid.owl ### Entities and axioms diff --git a/docs/metrics/gard.md b/docs/metrics/gard.md index 755d8266..274a6c32 100644 --- a/docs/metrics/gard.md +++ b/docs/metrics/gard.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/gard.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index bac13d0c..f4c12227 100644 --- a/docs/metrics/icd10cm.md +++ b/docs/metrics/icd10cm.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 375caf4a..934abc05 100644 --- a/docs/metrics/icd10who.md +++ b/docs/metrics/icd10who.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index e00ae9b7..ba3dc5e9 100644 --- a/docs/metrics/icd11foundation.md +++ b/docs/metrics/icd11foundation.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index af717b03..02defde6 100644 --- a/docs/metrics/ncit.md +++ b/docs/metrics/ncit.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ncit.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index 9f9835ff..8643cd86 100644 --- a/docs/metrics/omim.md +++ b/docs/metrics/omim.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/omim.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 19 | -| Axioms | 354395 | -| Logical axioms | 26211 | -| Classes | 22954 | +| Axioms | 355487 | +| Logical axioms | 26217 | +| Classes | 22957 | | Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,17 +32,17 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 305207 | +| AnnotationAssertion | 306290 | | SubAnnotationPropertyOf | 1 | -| Declaration | 22976 | -| SubClassOf | 26211 | +| Declaration | 22979 | +| SubClassOf | 26217 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 21512 | +| prefix_unknown | 21515 | | oboInOwl | 4 | | owl | 2 | | xsd | 1 | @@ -61,8 +61,8 @@ | Metric | Value | | ------ | ----- | -| Class | 75366 | -| ObjectSomeValuesFrom | 21258 | +| Class | 75381 | +| ObjectSomeValuesFrom | 21262 | More information about the source can be found [in the documentation](../sources.md). The raw data (ontology metrics) can be found [on GitHub](https://github.com/monarch-initiative/mondo-ingest/tree/main/src/ontology/metadata). diff --git a/docs/metrics/ordo.md b/docs/metrics/ordo.md index 19a40f2d..44cf2a18 100644 --- a/docs/metrics/ordo.md +++ b/docs/metrics/ordo.md @@ -2,7 +2,7 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/ordo.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/ordo.owl ### Entities and axioms diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index 1bb6831d..8980a6a7 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -2,13 +2,13 @@ | Ontology | Tot | |:------------------------------------------------|:------| | [GARD](./migrate_gard.md) | 9,370 | -| [OMIM](./migrate_omim.md) | 6 | | [DOID](./migrate_doid.md) | 53 | | [ICD11FOUNDATION](./migrate_icd11foundation.md) | 4,594 | -| [ORDO](./migrate_ordo.md) | 22 | | [NCIT](./migrate_ncit.md) | 2,209 | +| [ORDO](./migrate_ordo.md) | 13 | | [ICD10WHO](./migrate_icd10who.md) | 119 | | [ICD10CM](./migrate_icd10cm.md) | 1,892 | +| [OMIM](./migrate_omim.md) | 1 | ### Codebook `Ontology`: Name of ontology diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index c7374786..432f6515 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -2,12 +2,7 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/omim.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | -|:--------------|:--------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:--------------------------------------------------------------------------------------------------|:--------------|:--------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | -| MONDO:0975705 | otofacial neurodevelopmental syndrome | OMIM:620910 | MONDO:equivalentTo | otofacial neurodevelopmental syndrome | | | -| MONDO:0975745 | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | OMIM:620888 | MONDO:equivalentTo | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | | | -| MONDO:0975746 | spastic paraplegia 92, autosomal recessive | OMIM:620911 | MONDO:equivalentTo | spastic paraplegia 92, autosomal recessive | | MONDO:0019064 | -| MONDO:0975747 | spermatogenic failure 95 | OMIM:620917 | MONDO:equivalentTo | spermatogenic failure 95 | | MONDO:0004983 | -| MONDO:0975748 | parkinson disease 26, autosomal dominant, susceptibility to | OMIM:620923 | MONDO:equivalentTo | parkinson disease 26, autosomal dominant, susceptibility to | | MONDO:0005180 | -| MONDO:0975749 | immunodeficiency 125 | OMIM:620926 | MONDO:equivalentTo | immunodeficiency 125 | | MONDO:0021094 | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | +|:--------------|:----------------------------------------|:---------------------|:---------------------------|:----------------------------------------|:--------------|:--------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | +| MONDO:0975761 | immunodeficiency 126, susceptibility to | OMIM:620931 | MONDO:equivalentTo | immunodeficiency 126, susceptibility to | | MONDO:0021094 | \ No newline at end of file diff --git a/docs/reports/migrate_ordo.md b/docs/reports/migrate_ordo.md index 56b73bc3..eb77caab 100644 --- a/docs/reports/migrate_ordo.md +++ b/docs/reports/migrate_ordo.md @@ -2,28 +2,19 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/slurp/ordo.tsv) ### Migratable terms -| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset | -|:--------------|:-------------------------------------------------------------------------------------------------------------------------|:---------------------|:---------------------------|:-------------------------------------------------------------------------------------------------------------------------|:--------------|:--------------------------------------------------------|:----------------------| -| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | -| MONDO:0971055 | rare yersiniosis | Orphanet:659712 | MONDO:equivalentTo | Rare yersiniosis | | MONDO:8000033|MONDO:0015575 | group of disorders | -| MONDO:0971082 | gastric duplication | Orphanet:662376 | MONDO:equivalentTo | Gastric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | -| MONDO:0971083 | gallbladder duplication | Orphanet:662388 | MONDO:equivalentTo | Gallbladder duplication | | MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 | disorder | -| MONDO:0971084 | colonic duplication | Orphanet:662392 | MONDO:equivalentTo | Colonic duplication | | MONDO:0015211|MONDO:8000030|MONDO:8000034 | disorder | -| MONDO:0971085 | pyloric duplication | Orphanet:662405 | MONDO:equivalentTo | Pyloric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | -| MONDO:0971086 | small intestine duplication | Orphanet:662456 | MONDO:equivalentTo | Small intestine duplication | | MONDO:8000030|MONDO:0015211|MONDO:8000034 | disorder | -| MONDO:0971089 | vasa previa | Orphanet:662786 | MONDO:equivalentTo | Vasa previa | | MONDO:0015582|MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0971099 | inherited cancer-predisposing lymphoproliferative syndrome | Orphanet:664450 | MONDO:equivalentTo | Inherited cancer-predisposing lymphoproliferative syndrome | | MONDO:8000033|MONDO:0015356 | group of disorders | -| MONDO:0971100 | immune dysregulation disease with immunodeficiency associated with ebv susceptibility | Orphanet:664456 | MONDO:equivalentTo | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | | MONDO:8000033|MONDO:0015710 | group of disorders | -| MONDO:0971109 | isolated congenital femoral bifurcation | Orphanet:667589 | MONDO:equivalentTo | Isolated congenital femoral bifurcation | | MONDO:8000034|MONDO:8000030|MONDO:0017420 | disorder | -| MONDO:0971120 | syndrome with congenital phagocyte functional defect as a major feature | Orphanet:674648 | MONDO:equivalentTo | Syndrome with congenital phagocyte functional defect as a major feature | | MONDO:8000033|MONDO:0015978 | group of disorders | -| MONDO:0971122 | non-syndromic congenital phagocyte functional defect | Orphanet:674896 | MONDO:equivalentTo | Non-syndromic congenital phagocyte functional defect | | MONDO:8000033|MONDO:0015978 | group of disorders | -| MONDO:0971144 | primary benign peritoneal tumor | Orphanet:676030 | MONDO:equivalentTo | Primary benign peritoneal tumor | | MONDO:8000033|MONDO:0015682 | group of disorders | -| MONDO:0975751 | brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to mef2c mutation | Orphanet:664416 | MONDO:equivalentTo | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation | | MONDO:0013266|MONDO:8000031 | subtype of a disorder | -| MONDO:0975752 | littoral cell hemangioma of the spleen | Orphanet:673538 | MONDO:equivalentTo | Littoral cell hemangioma of the spleen | | MONDO:0000001|MONDO:0971115|MONDO:8000034 | disorder | -| MONDO:0975753 | papillary hemangioma | Orphanet:673543 | MONDO:equivalentTo | Papillary hemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0975754 | pseudomyogenic hemangioendothelioma | Orphanet:673556 | MONDO:equivalentTo | Pseudomyogenic hemangioendothelioma | | MONDO:0971116|MONDO:8000034|MONDO:0018729|MONDO:0000001 | disorder | -| MONDO:0975755 | eccrine angiomatous hamartoma | Orphanet:673568 | MONDO:equivalentTo | Eccrine angiomatous hamartoma | | MONDO:8000034|MONDO:0000001|MONDO:0019300|MONDO:0971115 | disorder | -| MONDO:0975756 | reactive angioendotheliomatosis | Orphanet:673574 | MONDO:equivalentTo | Reactive angioendotheliomatosis | | MONDO:8000034|MONDO:0971115|MONDO:0000001 | disorder | -| MONDO:0975757 | anastomosing haemangioma | Orphanet:675359 | MONDO:equivalentTo | Anastomosing haemangioma | | MONDO:8000034|MONDO:0971115|MONDO:0000001|MONDO:0018729 | disorder | -| MONDO:0975758 | microvenular haemangioma | Orphanet:675369 | MONDO:equivalentTo | Microvenular haemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder | -| MONDO:0975759 | acquired elastotic haemangioma | Orphanet:675597 | MONDO:equivalentTo | Acquired elastotic haemangioma | | MONDO:0971115|MONDO:8000034|MONDO:0000001 | disorder | \ No newline at end of file +| mondo_id | mondo_label | xref | xref_source | original_label | definition | parents | subset | +|:--------------|:--------------------------------------------------------------------------------------|:---------------------|:---------------------------|:--------------------------------------------------------------------------------------|:--------------|:--------------------------------------------------------|:-------------------| +| ID | LABEL | A oboInOwl:hasDbXref | >A oboInOwl:source SPLIT=| | | A IAO:0000115 | SC % | | +| MONDO:0971055 | rare yersiniosis | Orphanet:659712 | MONDO:equivalentTo | Rare yersiniosis | | MONDO:8000033|MONDO:0015575 | group of disorders | +| MONDO:0971082 | gastric duplication | Orphanet:662376 | MONDO:equivalentTo | Gastric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | +| MONDO:0971083 | gallbladder duplication | Orphanet:662388 | MONDO:equivalentTo | Gallbladder duplication | | MONDO:0015213|MONDO:0015116|MONDO:8000034|MONDO:8000030 | disorder | +| MONDO:0971084 | colonic duplication | Orphanet:662392 | MONDO:equivalentTo | Colonic duplication | | MONDO:0015211|MONDO:8000030|MONDO:8000034 | disorder | +| MONDO:0971085 | pyloric duplication | Orphanet:662405 | MONDO:equivalentTo | Pyloric duplication | | MONDO:8000034|MONDO:8000030|MONDO:0015209 | disorder | +| MONDO:0971086 | small intestine duplication | Orphanet:662456 | MONDO:equivalentTo | Small intestine duplication | | MONDO:8000030|MONDO:0015211|MONDO:8000034 | disorder | +| MONDO:0971089 | vasa previa | Orphanet:662786 | MONDO:equivalentTo | Vasa previa | | MONDO:0015582|MONDO:8000034|MONDO:0000001 | disorder | +| MONDO:0971099 | inherited cancer-predisposing lymphoproliferative syndrome | Orphanet:664450 | MONDO:equivalentTo | Inherited cancer-predisposing lymphoproliferative syndrome | | MONDO:8000033|MONDO:0015356 | group of disorders | +| MONDO:0971100 | immune dysregulation disease with immunodeficiency associated with ebv susceptibility | Orphanet:664456 | MONDO:equivalentTo | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | | MONDO:8000033|MONDO:0015710 | group of disorders | +| MONDO:0971109 | isolated congenital femoral bifurcation | Orphanet:667589 | MONDO:equivalentTo | Isolated congenital femoral bifurcation | | MONDO:8000034|MONDO:8000030|MONDO:0017420 | disorder | +| MONDO:0971120 | syndrome with congenital phagocyte functional defect as a major feature | Orphanet:674648 | MONDO:equivalentTo | Syndrome with congenital phagocyte functional defect as a major feature | | MONDO:8000033|MONDO:0015978 | group of disorders | +| MONDO:0971122 | non-syndromic congenital phagocyte functional defect | Orphanet:674896 | MONDO:equivalentTo | Non-syndromic congenital phagocyte functional defect | | MONDO:8000033|MONDO:0015978 | group of disorders | +| MONDO:0971144 | primary benign peritoneal tumor | Orphanet:676030 | MONDO:equivalentTo | Primary benign peritoneal tumor | | MONDO:8000033|MONDO:0015682 | group of disorders | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index 8edb1c95..9b90176d 100644 --- a/docs/reports/unmapped.md +++ b/docs/reports/unmapped.md @@ -6,9 +6,9 @@ | [ICD11FOUNDATION](./unmapped_icd11foundation.md) | 57,713 | 0 | 5,594 | 5,594 | 52,119 | 4,107 | 48,012 | 92.1% | | [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,216 | 15,965 | 3,675 | 12,290 | 77.0% | | [GARD](./unmapped_gard.md) | 12,004 | 0 | 0 | 0 | 12,004 | 0 | 12,004 | 100.0% | -| [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,257 | 9,291 | 9,205 | 86 | 0.9% | +| [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,257 | 9,291 | 9,214 | 77 | 0.8% | | [DOID](./unmapped_doid.md) | 14,132 | 2,660 | 2,488 | 2,475 | 11,470 | 11,417 | 53 | 0.5% | -| [OMIM](./unmapped_omim.md) | 29,452 | 19,329 | 1,366 | 1,324 | 8,758 | 8,752 | 6 | 0.1% | +| [OMIM](./unmapped_omim.md) | 29,454 | 19,330 | 1,366 | 1,324 | 8,759 | 8,758 | 1 | 0.0% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 8988ea99..589a958e 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -2,11 +2,6 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/omim_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:-------------|:--------------------------------------------------------------------------------------------------| -| OMIM:620926 | immunodeficiency 125 | -| OMIM:620888 | neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 | -| OMIM:620910 | otofacial neurodevelopmental syndrome | -| OMIM:620923 | parkinson disease 26, autosomal dominant, susceptibility to | -| OMIM:620911 | spastic paraplegia 92, autosomal recessive | -| OMIM:620917 | spermatogenic failure 95 | \ No newline at end of file +| subject_id | subject_label | +|:-------------|:----------------------------------------| +| OMIM:620931 | immunodeficiency 126, susceptibility to | \ No newline at end of file diff --git a/docs/reports/unmapped_ordo.md b/docs/reports/unmapped_ordo.md index 9239f38f..ec47c5ac 100644 --- a/docs/reports/unmapped_ordo.md +++ b/docs/reports/unmapped_ordo.md @@ -2,91 +2,82 @@ [Interactive FlatGithub table](https://flatgithub.com/monarch-initiative/mondo-ingest?filename=src/ontology/reports/ordo_mapping_status.tsv) ### Unmapped mappable terms _(!excluded, !deprecated)_ -| subject_id | subject_label | -|:----------------|:-------------------------------------------------------------------------------------------------------------------------| -| Orphanet:409975 | 1-5 / 10 000 | -| Orphanet:409976 | 1-9 / 1 000 000 | -| Orphanet:409977 | 1-9 / 100 000 | -| Orphanet:409978 | 6-9 / 10 000 | -| Orphanet:409979 | <1 / 1 000 000 | -| Orphanet:409980 | >1 / 1000 | -| Orphanet:675597 | Acquired elastotic haemangioma | -| Orphanet:674653 | Actinomyopathy-associated syndromic thrombocytopenia | -| Orphanet:675976 | Adenomatoid tumour of the peritoneum | -| Orphanet:675359 | Anastomosing haemangioma | -| Orphanet:664416 | Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation | -| Orphanet:662392 | Colonic duplication | -| Orphanet:662473 | Duodenal duplication | -| Orphanet:664734 | EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature | -| Orphanet:664726 | EBV-induced lymphoproliferative disease due to CD137 deficiency | -| Orphanet:664711 | EBV-induced lymphoproliferative disease due to PRKCD deficiency | -| Orphanet:664699 | EBV-induced lymphoproliferative disease due to RASGRP1 deficiency | -| Orphanet:664729 | EBV-induced lymphoproliferative disease due to TET2 deficiency | -| Orphanet:673568 | Eccrine angiomatous hamartoma | -| Orphanet:662388 | Gallbladder duplication | -| Orphanet:662376 | Gastric duplication | -| Orphanet:664456 | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | -| Orphanet:664450 | Inherited cancer-predisposing lymphoproliferative syndrome | -| Orphanet:667589 | Isolated congenital femoral bifurcation | -| Orphanet:662480 | Jujeno-ileal duplication | -| Orphanet:673538 | Littoral cell hemangioma of the spleen | -| Orphanet:675369 | Microvenular haemangioma | -| Orphanet:674896 | Non-syndromic congenital phagocyte functional defect | -| Orphanet:673543 | Papillary hemangioma | -| Orphanet:676030 | Primary benign peritoneal tumor | -| Orphanet:673556 | Pseudomyogenic hemangioendothelioma | -| Orphanet:662405 | Pyloric duplication | -| Orphanet:659712 | Rare yersiniosis | -| Orphanet:673574 | Reactive angioendotheliomatosis | -| Orphanet:662456 | Small intestine duplication | -| Orphanet:674648 | Syndrome with congenital phagocyte functional defect as a major feature | -| Orphanet:409981 | Unknown_epidemiological_range | -| Orphanet:662786 | Vasa previa | -| Orphanet:676033 | Well-differentiated papillary mesothelial tumour of the peritoneum | -| Orphanet:409934 | X-linked dominant | -| Orphanet:409932 | X-linked recessive | -| Orphanet:409938 | Y-linked | -| Orphanet:659707 | Yersinia pseudotuberculosis infection | -| Orphanet:409947 | adolescent | -| Orphanet:409948 | adult | -| Orphanet:C023 | age of onset | -| Orphanet:409950 | all ages | -| Orphanet:409967 | annual incidence | -| Orphanet:409943 | antenatal | -| Orphanet:409929 | autosomal dominant | -| Orphanet:409930 | autosomal recessive | -| Orphanet:409968 | birth prevalence | -| Orphanet:409973 | case | -| Orphanet:409970 | cases/families | -| Orphanet:557495 | category | -| Orphanet:409946 | childhood | -| Orphanet:377794 | clinical group | -| Orphanet:377796 | clinical subtype | -| Orphanet:409949 | elderly | -| Orphanet:C003 | epidemiology | -| Orphanet:377795 | etiological subtype | -| Orphanet:409974 | family | -| Orphanet:C009 | geography | -| Orphanet:C032 | has_annual_incidence_average_value | -| Orphanet:C020 | has_annual_incidence_range | -| Orphanet:C029 | has_birth_prevalence_average_value | -| Orphanet:C026 | has_birth_prevalence_range | -| Orphanet:C024 | has_cases/families_value | -| Orphanet:C030 | has_lifetime_prevalence_average_value | -| Orphanet:C027 | has_lifetime_prevalence_range | -| Orphanet:C028 | has_point_prevalence_average_value | -| Orphanet:C025 | has_point_prevalence_range | -| Orphanet:377797 | histopathological subtype | -| Orphanet:409945 | infancy | -| Orphanet:C005 | inheritance | -| Orphanet:409969 | lifetime prevalence | -| Orphanet:409933 | mitochondrial | -| Orphanet:409931 | multigenic/multifactorial | -| Orphanet:409944 | neonatal | -| Orphanet:409951 | no age of onset data available | -| Orphanet:409940 | no inheritance data available | -| Orphanet:409936 | oligogenic | -| Orphanet:409966 | point prevalence | -| Orphanet:C004 | prevalence | -| Orphanet:409937 | semi-dominant | -| Orphanet:409939 | unknown inheritance | \ No newline at end of file +| subject_id | subject_label | +|:----------------|:--------------------------------------------------------------------------------------| +| Orphanet:409975 | 1-5 / 10 000 | +| Orphanet:409976 | 1-9 / 1 000 000 | +| Orphanet:409977 | 1-9 / 100 000 | +| Orphanet:409978 | 6-9 / 10 000 | +| Orphanet:409979 | <1 / 1 000 000 | +| Orphanet:409980 | >1 / 1000 | +| Orphanet:674653 | Actinomyopathy-associated syndromic thrombocytopenia | +| Orphanet:675976 | Adenomatoid tumour of the peritoneum | +| Orphanet:662392 | Colonic duplication | +| Orphanet:662473 | Duodenal duplication | +| Orphanet:664734 | EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature | +| Orphanet:664726 | EBV-induced lymphoproliferative disease due to CD137 deficiency | +| Orphanet:664711 | EBV-induced lymphoproliferative disease due to PRKCD deficiency | +| Orphanet:664699 | EBV-induced lymphoproliferative disease due to RASGRP1 deficiency | +| Orphanet:664729 | EBV-induced lymphoproliferative disease due to TET2 deficiency | +| Orphanet:662388 | Gallbladder duplication | +| Orphanet:662376 | Gastric duplication | +| Orphanet:664456 | Immune dysregulation disease with immunodeficiency associated with EBV susceptibility | +| Orphanet:664450 | Inherited cancer-predisposing lymphoproliferative syndrome | +| Orphanet:667589 | Isolated congenital femoral bifurcation | +| Orphanet:662480 | Jujeno-ileal duplication | +| Orphanet:674896 | Non-syndromic congenital phagocyte functional defect | +| Orphanet:676030 | Primary benign peritoneal tumor | +| Orphanet:662405 | Pyloric duplication | +| Orphanet:659712 | Rare yersiniosis | +| Orphanet:662456 | Small intestine duplication | +| Orphanet:674648 | Syndrome with congenital phagocyte functional defect as a major feature | +| Orphanet:409981 | Unknown_epidemiological_range | +| Orphanet:662786 | Vasa previa | +| Orphanet:676033 | Well-differentiated papillary mesothelial tumour of the peritoneum | +| Orphanet:409934 | X-linked dominant | +| Orphanet:409932 | X-linked recessive | +| Orphanet:409938 | Y-linked | +| Orphanet:659707 | Yersinia pseudotuberculosis infection | +| Orphanet:409947 | adolescent | +| Orphanet:409948 | adult | +| Orphanet:C023 | age of onset | +| Orphanet:409950 | all ages | +| Orphanet:409967 | annual incidence | +| Orphanet:409943 | antenatal | +| Orphanet:409929 | autosomal dominant | +| Orphanet:409930 | autosomal recessive | +| Orphanet:409968 | birth prevalence | +| Orphanet:409973 | case | +| Orphanet:409970 | cases/families | +| Orphanet:557495 | category | +| Orphanet:409946 | childhood | +| Orphanet:377794 | clinical group | +| Orphanet:377796 | clinical subtype | +| Orphanet:409949 | elderly | +| Orphanet:C003 | epidemiology | +| Orphanet:377795 | etiological subtype | +| Orphanet:409974 | family | +| Orphanet:C009 | geography | +| Orphanet:C032 | has_annual_incidence_average_value | +| Orphanet:C020 | has_annual_incidence_range | +| Orphanet:C029 | has_birth_prevalence_average_value | +| Orphanet:C026 | has_birth_prevalence_range | +| Orphanet:C024 | has_cases/families_value | +| Orphanet:C030 | has_lifetime_prevalence_average_value | +| Orphanet:C027 | has_lifetime_prevalence_range | +| Orphanet:C028 | has_point_prevalence_average_value | +| Orphanet:C025 | has_point_prevalence_range | +| Orphanet:377797 | histopathological subtype | +| Orphanet:409945 | infancy | +| Orphanet:C005 | inheritance | +| Orphanet:409969 | lifetime prevalence | +| Orphanet:409933 | mitochondrial | +| Orphanet:409931 | multigenic/multifactorial | +| Orphanet:409944 | neonatal | +| Orphanet:409951 | no age of onset data available | +| Orphanet:409940 | no inheritance data available | +| Orphanet:409936 | oligogenic | +| Orphanet:409966 | point prevalence | +| Orphanet:C004 | prevalence | +| Orphanet:409937 | semi-dominant | +| Orphanet:409939 | unknown inheritance | \ No newline at end of file diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index 4db6d7ec..a7d5e661 100644 --- a/src/mappings/gard.sssom.tsv +++ b/src/mappings/gard.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/96a526a9-fed4-44fb-9815-823aa5c50b43 +# mapping_set_id: https://w3id.org/sssom/mappings/c1ce287b-1972-411a-b4d3-e2e6e5fd5254 subject_id subject_label predicate_id object_id mapping_justification obo:GARD_1 GRACILE syndrome skos:exactMatch Orphanet:53693 semapv:UnspecifiedMatching obo:GARD_1 GRACILE syndrome skos:narrowMatch OMIM:603358 semapv:UnspecifiedMatching diff --git a/src/mappings/icd10cm.sssom.tsv b/src/mappings/icd10cm.sssom.tsv index 51864254..dcd83d28 100644 --- a/src/mappings/icd10cm.sssom.tsv +++ b/src/mappings/icd10cm.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/029618b3-0fc6-42dd-8fde-476d62becd23 +# mapping_set_id: https://w3id.org/sssom/mappings/2af0f4d5-0d59-41e0-a07e-c55ab33febf6 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 8b4ca7af..5ae8ba23 100644 --- a/src/mappings/icd10who.sssom.tsv +++ b/src/mappings/icd10who.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/d9af3432-3654-4228-b762-7d9f9fbda536 +# mapping_set_id: https://w3id.org/sssom/mappings/76d25e15-5572-4f35-828c-7bdfb8ab81c5 diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index 5b542301..26df93a4 100644 --- a/src/mappings/icd11foundation.sssom.tsv +++ b/src/mappings/icd11foundation.sssom.tsv @@ -6,6 +6,6 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/0599b5ca-b47c-4b88-a393-f64cadfc9a16 +# mapping_set_id: https://w3id.org/sssom/mappings/281e599e-a8f8-4da2-82b0-d840044209b3 diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index c6834ed3..d477dfee 100644 --- a/src/mappings/mondo-nando.sssom.tsv +++ b/src/mappings/mondo-nando.sssom.tsv @@ -15,7 +15,7 @@ # mapping_provider: MONDO:NANDO # mapping_set_description: This mapping set is manually curated by the NANDO team at # nanbyodata.jp. -# mapping_set_id: https://w3id.org/sssom/mappings/7198bf2f-feb0-438e-81e0-9100722b08c1 +# mapping_set_id: https://w3id.org/sssom/mappings/d94d2018-d62f-4be8-a197-56416748fd8f # mapping_set_title: NANDO - Mondo mappings provided by nanbyodata.jp subject_id subject_label predicate_id object_id object_label mapping_justification MONDO:0000050 isolated congenital growth hormone deficiency skos:closeMatch NANDO:2200317 Congenital growth hormone deficiency semapv:MappingInversion diff --git a/src/mappings/ncit.sssom.tsv b/src/mappings/ncit.sssom.tsv index 0d85010c..a069d6a8 100644 --- a/src/mappings/ncit.sssom.tsv +++ b/src/mappings/ncit.sssom.tsv @@ -9,7 +9,7 @@ # skos: http://www.w3.org/2004/02/skos/core# # sssom: https://w3id.org/sssom/ # license: https://w3id.org/sssom/license/unspecified -# mapping_set_id: https://w3id.org/sssom/mappings/314636b0-e79b-43f8-bab0-cebd81778b0b +# mapping_set_id: https://w3id.org/sssom/mappings/37e133c7-4858-4cfa-b999-bebf7399bba3 subject_id subject_label predicate_id object_id mapping_justification NCIT:C103222 Popliteal Fossa oboInOwl:hasDbXref UBERON:0013069 semapv:UnspecifiedMatching NCIT:C103384 Common Iliac Lymph Node oboInOwl:hasDbXref UBERON:0015878 semapv:UnspecifiedMatching diff --git a/src/mappings/omim.sssom.tsv b/src/mappings/omim.sssom.tsv index f8a049a5..430f6bc1 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -137,7 +137,7 @@ MONDO:0004914 skos:exactMatch OMIM:116870 celiac artery stenosis from compressi MONDO:0004933 skos:exactMatch omim.ps:241550 Hypoplastic left heart syndrome semapv:UnspecifiedMatching MONDO:0004948 skos:exactMatch OMIM:151400 leukemia, chronic lymphocytic semapv:UnspecifiedMatching MONDO:0004951 skos:exactMatch OMIM:609423 human immunodeficiency virus type 1, susceptibility to semapv:UnspecifiedMatching -MONDO:0004980 skos:exactMatch omim.ps:603165 Dermatitis, atopic semapv:UnspecifiedMatching +MONDO:0004980 skos:exactMatch OMIM:603165 dermatitis, atopic semapv:UnspecifiedMatching MONDO:0004983 skos:exactMatch omim.ps:258150 Spermatogenic failure semapv:UnspecifiedMatching MONDO:0005002 skos:exactMatch OMIM:606963 pulmonary disease, chronic obstructive semapv:UnspecifiedMatching MONDO:0005081 skos:exactMatch omim.ps:189800 Preeclampsia/eclampsia semapv:UnspecifiedMatching @@ -2470,7 +2470,6 @@ MONDO:0009485 skos:exactMatch OMIM:244450 kaufman oculocerebrofacial syndrome s MONDO:0009486 skos:exactMatch OMIM:244460 kenny-caffey syndrome, type 1 semapv:UnspecifiedMatching MONDO:0009487 skos:exactMatch OMIM:244510 keratoconus and congenital hip dysplasia semapv:UnspecifiedMatching MONDO:0009488 skos:exactMatch OMIM:244600 keratoconus posticus circumscriptus semapv:UnspecifiedMatching -MONDO:0009489 skos:exactMatch OMIM:244850 semapv:UnspecifiedMatching MONDO:0009490 skos:exactMatch OMIM:245000 papillon-lefevre syndrome semapv:UnspecifiedMatching MONDO:0009491 skos:exactMatch OMIM:245010 haim-munk syndrome semapv:UnspecifiedMatching MONDO:0009492 skos:exactMatch OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency semapv:UnspecifiedMatching @@ -3078,6 +3077,7 @@ MONDO:0010128 skos:exactMatch OMIM:274240 thyrocerebroretinal syndrome semapv:U MONDO:0010129 skos:exactMatch OMIM:274265 thymic-renal-anal-lung dysplasia semapv:UnspecifiedMatching MONDO:0010130 skos:exactMatch OMIM:274270 dihydropyrimidine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0010131 skos:exactMatch OMIM:274300 thyroid hormone resistance, generalized, autosomal recessive semapv:UnspecifiedMatching +MONDO:0010132 skos:exactMatch omim.ps:274400 Thyroid dyshormonogenesis semapv:UnspecifiedMatching MONDO:0010133 skos:exactMatch OMIM:274500 thyroid dyshormonogenesis 2a semapv:UnspecifiedMatching MONDO:0010134 skos:exactMatch OMIM:274600 pendred syndrome semapv:UnspecifiedMatching MONDO:0010135 skos:exactMatch OMIM:274700 thyroid dyshormonogenesis 3 semapv:UnspecifiedMatching @@ -4167,7 +4167,6 @@ MONDO:0011288 skos:exactMatch OMIM:603117 spastic paraplegia, optic atrophy, mi MONDO:0011289 skos:exactMatch OMIM:603119 apraxia of eyelid opening semapv:UnspecifiedMatching MONDO:0011290 skos:exactMatch OMIM:603133 dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0011291 skos:exactMatch OMIM:603147 congenital disorder of glycosylation, type ic semapv:UnspecifiedMatching -MONDO:0011292 skos:exactMatch OMIM:603165 dermatitis, atopic semapv:UnspecifiedMatching MONDO:0011294 skos:exactMatch OMIM:603175 schizophrenia 5 semapv:UnspecifiedMatching MONDO:0011295 skos:exactMatch OMIM:603176 schizophrenia 7 semapv:UnspecifiedMatching MONDO:0011296 skos:exactMatch OMIM:603194 meckel syndrome, type 2 semapv:UnspecifiedMatching @@ -4727,7 +4726,6 @@ MONDO:0011889 skos:exactMatch OMIM:607677 charcot-marie-tooth disease, axonal, MONDO:0011890 skos:exactMatch OMIM:607678 charcot-marie-tooth disease, demyelinating, type 1d semapv:UnspecifiedMatching MONDO:0011891 skos:exactMatch OMIM:607681 febrile seizures, familial, 8 semapv:UnspecifiedMatching MONDO:0011892 skos:exactMatch OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 semapv:UnspecifiedMatching -MONDO:0011893 skos:exactMatch OMIM:607683 semapv:UnspecifiedMatching MONDO:0011894 skos:exactMatch OMIM:607684 charcot-marie-tooth disease, axonal, type 2e semapv:UnspecifiedMatching MONDO:0011895 skos:exactMatch OMIM:607685 hypereosinophilic syndrome, idiopathic semapv:UnspecifiedMatching MONDO:0011896 skos:exactMatch OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to semapv:UnspecifiedMatching @@ -8020,6 +8018,7 @@ MONDO:0019111 skos:exactMatch omim.ps:187950 Thrombocythemia semapv:Unspecified MONDO:0019148 skos:exactMatch OMIM:620151 wolman disease semapv:UnspecifiedMatching MONDO:0019149 skos:exactMatch OMIM:278000 cholesteryl ester storage disease semapv:UnspecifiedMatching MONDO:0019154 skos:exactMatch OMIM:300068 androgen insensitivity syndrome semapv:UnspecifiedMatching +MONDO:0019161 skos:exactMatch omim.ps:177735 Pseudohypoaldosteronism, type I semapv:UnspecifiedMatching MONDO:0019162 skos:exactMatch omim.ps:145260 Pseudohypoaldosteronism, type II semapv:UnspecifiedMatching MONDO:0019165 skos:exactMatch omim.ps:176400 Precocious puberty, central semapv:UnspecifiedMatching MONDO:0019169 skos:exactMatch omim.ps:312170 Pyruvate dehydrogenase complex deficiency semapv:UnspecifiedMatching @@ -8259,7 +8258,6 @@ MONDO:0021944 skos:exactMatch omim.ps:609129 Auditory neuropathy semapv:Unspeci MONDO:0022109 skos:exactMatch OMIM:116850 catatrichy semapv:UnspecifiedMatching MONDO:0022113 skos:exactMatch OMIM:618352 central centrifugal cicatricial alopecia semapv:UnspecifiedMatching MONDO:0022316 skos:exactMatch OMIM:234030 hair defect with photosensitivity and impaired intellectual development semapv:UnspecifiedMatching -MONDO:0023122 skos:exactMatch OMIM:176807 prostate cancer semapv:UnspecifiedMatching MONDO:0023655 skos:exactMatch OMIM:619281 immunodeficiency 14b, autosomal recessive semapv:UnspecifiedMatching MONDO:0023657 skos:exactMatch OMIM:619320 intellectual developmental disorder, autosomal dominant 65 semapv:UnspecifiedMatching MONDO:0023659 skos:exactMatch OMIM:619340 developmental and epileptic encephalopathy 96 semapv:UnspecifiedMatching @@ -8762,7 +8760,7 @@ MONDO:0030937 skos:exactMatch OMIM:619167 mitochondrial complex 2 deficiency, n MONDO:0030938 skos:exactMatch OMIM:619202 spermatogenic failure 52 semapv:UnspecifiedMatching MONDO:0030939 skos:exactMatch OMIM:619203 premature ovarian failure 18 semapv:UnspecifiedMatching MONDO:0030941 skos:exactMatch OMIM:619209 erythrokeratodermia variabilis et progressiva 7 semapv:UnspecifiedMatching -MONDO:0030947 skos:exactMatch OMIM:619173 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities semapv:UnspecifiedMatching +MONDO:0030947 skos:exactMatch OMIM:619173 ceroid lipofuscinosis, neuronal, 15 semapv:UnspecifiedMatching MONDO:0030953 skos:exactMatch OMIM:619184 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 semapv:UnspecifiedMatching MONDO:0030957 skos:exactMatch OMIM:619913 developmental and epileptic encephalopathy 103 semapv:UnspecifiedMatching MONDO:0030958 skos:exactMatch OMIM:619921 dystonia 35, childhood-onset semapv:UnspecifiedMatching @@ -9716,6 +9714,7 @@ MONDO:0100165 skos:exactMatch OMIM:606176 diabetes mellitus, permanent neonatal MONDO:0100170 skos:exactMatch omim.ps:102300 Restless legs syndrome semapv:UnspecifiedMatching MONDO:0100172 skos:exactMatch omim.ps:156200 Intellectual developmental disorder, autosomal dominant semapv:UnspecifiedMatching MONDO:0100177 skos:exactMatch OMIM:607154 allergic rhinitis semapv:UnspecifiedMatching +MONDO:0100178 skos:exactMatch omim.ps:603165 Dermatitis, atopic semapv:UnspecifiedMatching MONDO:0100180 skos:exactMatch OMIM:612227 diabetes mellitus, ketosis-prone semapv:UnspecifiedMatching MONDO:0100183 skos:exactMatch OMIM:179300 radioulnar synostosis, nonsyndromic, susceptibility to semapv:UnspecifiedMatching MONDO:0100186 skos:exactMatch OMIM:233910 hyperphenylalaninemia, bh4-deficient, B semapv:UnspecifiedMatching @@ -9812,6 +9811,7 @@ MONDO:0700245 skos:exactMatch OMIM:620707 epidermolytic hyperkeratosis 2b, auto MONDO:0700248 skos:exactMatch OMIM:620150 epidermolytic hyperkeratosis 2a, autosomal dominant semapv:UnspecifiedMatching MONDO:0700249 skos:exactMatch OMIM:113800 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching MONDO:0700250 skos:exactMatch OMIM:220110 mitochondrial complex 4 deficiency, nuclear type 1 semapv:UnspecifiedMatching +MONDO:0700275 skos:exactMatch OMIM:176807 prostate cancer semapv:UnspecifiedMatching MONDO:0800001 skos:exactMatch OMIM:614163 delayed sleep phase disorder, susceptibility to semapv:UnspecifiedMatching MONDO:0800025 skos:exactMatch OMIM:145420 teebi hypertelorism syndrome 1 semapv:UnspecifiedMatching MONDO:0800026 skos:exactMatch OMIM:209880 central hypoventilation syndrome, congenital, 1 semapv:UnspecifiedMatching @@ -10400,6 +10400,20 @@ MONDO:0971015 skos:exactMatch OMIM:620817 mhc class 2 deficiency 4 semapv:Unspe MONDO:0971016 skos:exactMatch OMIM:620818 mhc class 2 deficiency 5 semapv:UnspecifiedMatching MONDO:0971043 skos:exactMatch OMIM:620852 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities semapv:UnspecifiedMatching MONDO:0971044 skos:exactMatch OMIM:620865 ehlers-danlos syndrome, classic-like, 3 semapv:UnspecifiedMatching +MONDO:0971149 skos:exactMatch OMIM:620607 spastic paraplegia 30b, autosomal recessive semapv:UnspecifiedMatching +MONDO:0971150 skos:exactMatch OMIM:620854 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity semapv:UnspecifiedMatching +MONDO:0971151 skos:exactMatch OMIM:620869 immunodeficiency 122 semapv:UnspecifiedMatching +MONDO:0971152 skos:exactMatch OMIM:620877 deafness, autosomal recessive 125 semapv:UnspecifiedMatching +MONDO:0971170 skos:exactMatch OMIM:301120 prostate cancer, hereditary, X-linked 3 semapv:UnspecifiedMatching +MONDO:0971171 skos:exactMatch OMIM:620793 muscular dystrophy, limb-girdle, autosomal recessive 29 semapv:UnspecifiedMatching +MONDO:0971172 skos:exactMatch OMIM:620851 renu syndrome semapv:UnspecifiedMatching +MONDO:0971173 skos:exactMatch OMIM:620880 autoinflammation with arthritis and vasculitis semapv:UnspecifiedMatching +MONDO:0971174 skos:exactMatch OMIM:620887 multiple mitochondrial dysfunctions syndrome 9b semapv:UnspecifiedMatching +MONDO:0971175 skos:exactMatch OMIM:620894 cardiomyopathy, dilated, 2k semapv:UnspecifiedMatching +MONDO:0971176 skos:exactMatch OMIM:620897 ovarian dysgenesis 11 semapv:UnspecifiedMatching +MONDO:0971177 skos:exactMatch OMIM:620901 immunodeficiency 123 with hpv-related verrucosis semapv:UnspecifiedMatching +MONDO:0971178 skos:exactMatch OMIM:620903 polycystic kidney disease 8 semapv:UnspecifiedMatching +MONDO:0971179 skos:exactMatch OMIM:620908 arterial tortuosity-bone fragility syndrome semapv:UnspecifiedMatching MONDO:1030001 skos:exactMatch omim.ps:607631 Epilepsy, juvenile absence semapv:UnspecifiedMatching MONDO:8000006 skos:exactMatch OMIM:193670 whim syndrome 1 semapv:UnspecifiedMatching MONDO:8000008 skos:exactMatch OMIM:212720 martsolf syndrome 1 semapv:UnspecifiedMatching @@ -10412,6 +10426,7 @@ MONDO:8000018 skos:exactMatch OMIM:193007 vertigo, benign recurrent semapv:Unsp MONDO:8000024 skos:exactMatch OMIM:615559 autoimmune lymphoproliferative syndrome, type 3 semapv:UnspecifiedMatching OMIM:100050 aarskog syndrome, autosomal dominant skos:exactMatch MONDO:0007030 semapv:UnspecifiedMatching OMIM:100070 aortic aneurysm, familial abdominal, 1 skos:exactMatch MONDO:0024521 semapv:UnspecifiedMatching +OMIM:100070 aortic aneurysm, familial abdominal, 1 skos:exactMatch hgnc.symbol:AAA1 semapv:UnspecifiedMatching OMIM:100100 prune belly syndrome skos:exactMatch MONDO:0007032 semapv:UnspecifiedMatching OMIM:100100 prune belly syndrome skos:exactMatch Orphanet:2970 semapv:UnspecifiedMatching OMIM:100100 prune belly syndrome skos:exactMatch UMLS:C0033770 semapv:UnspecifiedMatching @@ -10481,6 +10496,7 @@ OMIM:102100 acromegaloid changes, cutis verticis gyrata, and corneal leukoma sko OMIM:102150 acromegaloid facial appearance syndrome skos:exactMatch MONDO:0007051 semapv:UnspecifiedMatching OMIM:102200 pituitary adenoma 1, multiple types skos:exactMatch MONDO:0007052 semapv:UnspecifiedMatching OMIM:102300 restless legs syndrome, susceptibility to, 1 skos:exactMatch MONDO:0007053 semapv:UnspecifiedMatching +OMIM:102300 restless legs syndrome, susceptibility to, 1 skos:exactMatch hgnc.symbol:RLS1 semapv:UnspecifiedMatching OMIM:102350 acromial dimples skos:exactMatch MONDO:0007054 semapv:UnspecifiedMatching OMIM:102370 acromicric dysplasia skos:exactMatch MONDO:0007055 semapv:UnspecifiedMatching OMIM:102400 acroosteolysis skos:exactMatch MONDO:0007056 semapv:UnspecifiedMatching @@ -10489,6 +10505,7 @@ OMIM:102480 ACR skos:exactMatch hgnc.symbol:ACR semapv:UnspecifiedMatching OMIM:102480 ACR skos:exactMatch ncbigene:49 semapv:UnspecifiedMatching OMIM:102500 hajdu-cheney syndrome skos:exactMatch MONDO:0007057 semapv:UnspecifiedMatching OMIM:102510 acropectorovertebral dysplasia skos:exactMatch MONDO:0007058 semapv:UnspecifiedMatching +OMIM:102510 acropectorovertebral dysplasia skos:exactMatch hgnc.symbol:ACRPV semapv:UnspecifiedMatching OMIM:102520 acrorenal syndrome skos:exactMatch MONDO:0007059 semapv:UnspecifiedMatching OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:127 semapv:UnspecifiedMatching OMIM:102525 ACRV1 skos:exactMatch hgnc.symbol:ACRV1 semapv:UnspecifiedMatching @@ -10740,6 +10757,7 @@ OMIM:103950 A2M skos:exactMatch hgnc.symbol:7 semapv:UnspecifiedMatching OMIM:103950 A2M skos:exactMatch hgnc.symbol:A2M semapv:UnspecifiedMatching OMIM:103950 A2M skos:exactMatch ncbigene:2 semapv:UnspecifiedMatching OMIM:104000 alopecia areata 1 skos:exactMatch MONDO:0007082 semapv:UnspecifiedMatching +OMIM:104000 alopecia areata 1 skos:exactMatch hgnc.symbol:AA1 semapv:UnspecifiedMatching OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch MONDO:0007083 semapv:UnspecifiedMatching OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch Orphanet:1010 semapv:UnspecifiedMatching OMIM:104100 palmoplantar keratoderma and congenital alopecia 1 skos:exactMatch UMLS:C3151468 semapv:UnspecifiedMatching @@ -10898,9 +10916,11 @@ OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos: OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch Orphanet:275872 semapv:UnspecifiedMatching OMIM:105550 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 skos:exactMatch UMLS:C3888102 semapv:UnspecifiedMatching OMIM:105563 anal sphincter dysplasia skos:exactMatch MONDO:0007106 semapv:UnspecifiedMatching +OMIM:105563 anal sphincter dysplasia skos:exactMatch hgnc.symbol:ASDP semapv:UnspecifiedMatching OMIM:105565 anal sphincter myopathy, internal skos:exactMatch MONDO:0007107 semapv:UnspecifiedMatching OMIM:105570 androstenone, ability to smell skos:exactMatch MONDO:0044214 semapv:UnspecifiedMatching OMIM:105580 anal canal carcinoma skos:exactMatch MONDO:0007108 semapv:UnspecifiedMatching +OMIM:105580 anal canal carcinoma skos:exactMatch hgnc.symbol:ANC semapv:UnspecifiedMatching OMIM:105590 ALK skos:exactMatch hgnc.symbol:427 semapv:UnspecifiedMatching OMIM:105590 ALK skos:exactMatch hgnc.symbol:ALK semapv:UnspecifiedMatching OMIM:105590 ALK skos:exactMatch ncbigene:238 semapv:UnspecifiedMatching @@ -10909,6 +10929,7 @@ OMIM:105650 diamond-blackfan anemia 1 skos:exactMatch MONDO:0007110 semapv:Unsp OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch MONDO:0007111 semapv:UnspecifiedMatching OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch Orphanet:231160 semapv:UnspecifiedMatching OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch UMLS:C1862932 semapv:UnspecifiedMatching +OMIM:105800 aneurysm, intracranial berry, 1 skos:exactMatch hgnc.symbol:ANIB1 semapv:UnspecifiedMatching OMIM:105805 aneurysm of interventricular septum skos:exactMatch MONDO:0007112 semapv:UnspecifiedMatching OMIM:105830 angelman syndrome skos:exactMatch MONDO:0007113 semapv:UnspecifiedMatching OMIM:105835 angel-shaped phalangoepiphyseal dysplasia skos:exactMatch MONDO:0007114 semapv:UnspecifiedMatching @@ -10941,6 +10962,7 @@ OMIM:106220 aniridia and absent patella skos:exactMatch MONDO:0007120 semapv:Un OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract skos:exactMatch MONDO:0007121 semapv:UnspecifiedMatching OMIM:106240 anisocoria skos:exactMatch MONDO:0007122 semapv:UnspecifiedMatching OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate skos:exactMatch MONDO:0007123 semapv:UnspecifiedMatching +OMIM:106250 ankyloblepharon filiforme adnatum and cleft palate skos:exactMatch hgnc.symbol:AFA semapv:UnspecifiedMatching OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch MONDO:0007124 semapv:UnspecifiedMatching OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch Orphanet:1071 semapv:UnspecifiedMatching OMIM:106260 ankyloblepharon-ectodermal defects-cleft lip/palate skos:exactMatch UMLS:C0406709 semapv:UnspecifiedMatching @@ -10963,6 +10985,7 @@ OMIM:106491 ANXA4 skos:exactMatch ncbigene:307 semapv:UnspecifiedMatching OMIM:106500 annular erythema skos:exactMatch MONDO:0007128 semapv:UnspecifiedMatching OMIM:106600 tooth agenesis, selective, 1 skos:exactMatch MONDO:0007129 semapv:UnspecifiedMatching OMIM:106700 total anomalous pulmonary venous return 1 skos:exactMatch MONDO:0007130 semapv:UnspecifiedMatching +OMIM:106700 total anomalous pulmonary venous return 1 skos:exactMatch hgnc.symbol:TAPVR1 semapv:UnspecifiedMatching OMIM:106750 anonychia with flexural pigmentation skos:exactMatch MONDO:0007131 semapv:UnspecifiedMatching OMIM:106900 anonychia-ectrodactyly skos:exactMatch MONDO:0007132 semapv:UnspecifiedMatching OMIM:106990 anonychia-onychodystrophy with brachydactyly type B and ectrodactyly skos:exactMatch MONDO:0007133 semapv:UnspecifiedMatching @@ -10972,6 +10995,7 @@ OMIM:106995 anonychia-onychodystrophy with hypoplasia or absence of distal phala OMIM:107000 nail disorder, nonsyndromic congenital, 6 skos:exactMatch MONDO:0007135 semapv:UnspecifiedMatching OMIM:107100 anorectal anomalies skos:exactMatch MONDO:0007136 semapv:UnspecifiedMatching OMIM:107200 anosmia, isolated congenital skos:exactMatch MONDO:0007137 semapv:UnspecifiedMatching +OMIM:107200 anosmia, isolated congenital skos:exactMatch hgnc.symbol:ANIC semapv:UnspecifiedMatching OMIM:107250 anterior segment dysgenesis 1 skos:exactMatch MONDO:0007138 semapv:UnspecifiedMatching OMIM:107260 antigen msk41 identified by monoclonal antibody e3 skos:exactMatch UMLS:C1862836 semapv:UnspecifiedMatching OMIM:107265 CD19 skos:exactMatch UMLS:C1413206 semapv:UnspecifiedMatching @@ -11014,6 +11038,7 @@ OMIM:107310 SLC9A1 skos:exactMatch hgnc.symbol:11071 semapv:UnspecifiedMatching OMIM:107310 SLC9A1 skos:exactMatch hgnc.symbol:SLC9A1 semapv:UnspecifiedMatching OMIM:107310 SLC9A1 skos:exactMatch ncbigene:6548 semapv:UnspecifiedMatching OMIM:107320 antiphospholipid syndrome, familial skos:exactMatch MONDO:8000014 semapv:UnspecifiedMatching +OMIM:107320 antiphospholipid syndrome, familial skos:exactMatch hgnc.symbol:ATPLS semapv:UnspecifiedMatching OMIM:107323 ALDH7A1 skos:exactMatch hgnc.symbol:877 semapv:UnspecifiedMatching OMIM:107323 ALDH7A1 skos:exactMatch hgnc.symbol:ALDH7A1 semapv:UnspecifiedMatching OMIM:107323 ALDH7A1 skos:exactMatch ncbigene:501 semapv:UnspecifiedMatching @@ -11240,6 +11265,7 @@ OMIM:108721 atelosteogenesis, type 3 skos:exactMatch MONDO:0007168 semapv:Unspe OMIM:108721 atelosteogenesis, type 3 skos:exactMatch Orphanet:56305 semapv:UnspecifiedMatching OMIM:108721 atelosteogenesis, type 3 skos:exactMatch UMLS:C3668942 semapv:UnspecifiedMatching OMIM:108725 atherosclerosis susceptibility skos:exactMatch MONDO:0007169 semapv:UnspecifiedMatching +OMIM:108725 atherosclerosis susceptibility skos:exactMatch hgnc.symbol:ATHS semapv:UnspecifiedMatching OMIM:108728 ACLY skos:exactMatch UMLS:C1412125 semapv:UnspecifiedMatching OMIM:108728 ACLY skos:exactMatch hgnc.symbol:115 semapv:UnspecifiedMatching OMIM:108728 ACLY skos:exactMatch hgnc.symbol:ACLY semapv:UnspecifiedMatching @@ -11277,6 +11303,7 @@ OMIM:108780 NPPA skos:exactMatch hgnc.symbol:7939 semapv:UnspecifiedMatching OMIM:108780 NPPA skos:exactMatch hgnc.symbol:NPPA semapv:UnspecifiedMatching OMIM:108780 NPPA skos:exactMatch ncbigene:4878 semapv:UnspecifiedMatching OMIM:108800 atrial septal defect 1 skos:exactMatch MONDO:0007172 semapv:UnspecifiedMatching +OMIM:108800 atrial septal defect 1 skos:exactMatch hgnc.symbol:ASD1 semapv:UnspecifiedMatching OMIM:108900 atrial septal defect 7 with or without atrioventricular conduction defects skos:exactMatch MONDO:0007173 semapv:UnspecifiedMatching OMIM:108950 atrial tachyarrhythmia with short pr interval skos:exactMatch MONDO:0007174 semapv:UnspecifiedMatching OMIM:108960 NPR1 skos:exactMatch hgnc.symbol:7943 semapv:UnspecifiedMatching @@ -11317,6 +11344,7 @@ OMIM:109160 azotemia, familial skos:exactMatch MONDO:0007183 semapv:Unspecified OMIM:109170 LST1 skos:exactMatch hgnc.symbol:14189 semapv:UnspecifiedMatching OMIM:109170 LST1 skos:exactMatch hgnc.symbol:LST1 semapv:UnspecifiedMatching OMIM:109170 LST1 skos:exactMatch ncbigene:7940 semapv:UnspecifiedMatching +OMIM:109180 baboon m7 virus integration site skos:exactMatch hgnc.symbol:BEVI semapv:UnspecifiedMatching OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:10943 semapv:UnspecifiedMatching OMIM:109190 SLC1A5 skos:exactMatch hgnc.symbol:SLC1A5 semapv:UnspecifiedMatching OMIM:109190 SLC1A5 skos:exactMatch ncbigene:6510 semapv:UnspecifiedMatching @@ -11324,6 +11352,7 @@ OMIM:109195 BPI skos:exactMatch hgnc.symbol:1095 semapv:UnspecifiedMatching OMIM:109195 BPI skos:exactMatch hgnc.symbol:BPI semapv:UnspecifiedMatching OMIM:109195 BPI skos:exactMatch ncbigene:671 semapv:UnspecifiedMatching OMIM:109200 alopecia, androgenetic, 1 skos:exactMatch MONDO:0007184 semapv:UnspecifiedMatching +OMIM:109200 alopecia, androgenetic, 1 skos:exactMatch hgnc.symbol:AFA1 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1420193 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1704380 semapv:UnspecifiedMatching OMIM:109270 SLC4A1 skos:exactMatch UMLS:C1832168 semapv:UnspecifiedMatching @@ -11361,6 +11390,7 @@ OMIM:109280 SLC4A2 skos:exactMatch hgnc.symbol:SLC4A2 semapv:UnspecifiedMatchin OMIM:109280 SLC4A2 skos:exactMatch ncbigene:6522 semapv:UnspecifiedMatching OMIM:109300 banki syndrome skos:exactMatch MONDO:0007185 semapv:UnspecifiedMatching OMIM:109350 gastroesophageal reflux skos:exactMatch MONDO:0007186 semapv:UnspecifiedMatching +OMIM:109350 gastroesophageal reflux skos:exactMatch hgnc.symbol:GER semapv:UnspecifiedMatching OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch MONDO:0958174 semapv:UnspecifiedMatching OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch Orphanet:377 semapv:UnspecifiedMatching OMIM:109400 basal cell nevus syndrome 1 skos:exactMatch UMLS:C0004779 semapv:UnspecifiedMatching @@ -11376,6 +11406,7 @@ OMIM:109535 CD40 skos:exactMatch hgnc.symbol:CD40 semapv:UnspecifiedMatching OMIM:109535 CD40 skos:exactMatch ncbigene:958 semapv:UnspecifiedMatching OMIM:109540 b-cell growth factor skos:exactMatch MONDO:0007189 semapv:UnspecifiedMatching OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch MONDO:0007190 semapv:UnspecifiedMatching +OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 skos:exactMatch hgnc.symbol:CLLS2 semapv:UnspecifiedMatching OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:11913 semapv:UnspecifiedMatching OMIM:109545 TNFRSF17 skos:exactMatch hgnc.symbol:TNFRSF17 semapv:UnspecifiedMatching OMIM:109545 TNFRSF17 skos:exactMatch ncbigene:608 semapv:UnspecifiedMatching @@ -11409,6 +11440,8 @@ OMIM:109636 ADRBK2 skos:exactMatch ncbigene:157 semapv:UnspecifiedMatching OMIM:109640 beta-glycerol phosphatase skos:exactMatch UMLS:C1415192 semapv:UnspecifiedMatching OMIM:109650 Behcet syndrome skos:exactMatch MONDO:0007191 semapv:UnspecifiedMatching OMIM:109660 beta-amino acids, renal transport of skos:exactMatch MONDO:0007192 semapv:UnspecifiedMatching +OMIM:109660 beta-amino acids, renal transport of skos:exactMatch hgnc.symbol:AABT semapv:UnspecifiedMatching +OMIM:109670 beta-adrenergic stimulation, response to skos:exactMatch hgnc.symbol:BAS semapv:UnspecifiedMatching OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:10860 semapv:UnspecifiedMatching OMIM:109675 ST6GAL1 skos:exactMatch hgnc.symbol:ST6GAL1 semapv:UnspecifiedMatching OMIM:109675 ST6GAL1 skos:exactMatch ncbigene:6480 semapv:UnspecifiedMatching @@ -11467,6 +11500,7 @@ OMIM:110300 ABO skos:exactMatch hgnc.symbol:79 semapv:UnspecifiedMatching OMIM:110300 ABO skos:exactMatch hgnc.symbol:ABO semapv:UnspecifiedMatching OMIM:110300 ABO skos:exactMatch ncbigene:28 semapv:UnspecifiedMatching OMIM:110350 blood group--ahonen skos:exactMatch MONDO:0020608 semapv:UnspecifiedMatching +OMIM:110350 blood group--ahonen skos:exactMatch hgnc.symbol:AN semapv:UnspecifiedMatching OMIM:110450 blood group, colton system skos:exactMatch MONDO:0020609 semapv:UnspecifiedMatching OMIM:110500 blood group, diego system skos:exactMatch MONDO:0020610 semapv:UnspecifiedMatching OMIM:110600 ART4 skos:exactMatch hgnc.symbol:726 semapv:UnspecifiedMatching @@ -11508,6 +11542,7 @@ OMIM:111730 B4GALNT2 skos:exactMatch ncbigene:124872 semapv:UnspecifiedMatching OMIM:111740 blood group, ss skos:exactMatch MONDO:0020620 semapv:UnspecifiedMatching OMIM:111750 blood group--scianna system skos:exactMatch MONDO:0020621 semapv:UnspecifiedMatching OMIM:111800 blood group--stoltzfus system skos:exactMatch MONDO:0020622 semapv:UnspecifiedMatching +OMIM:111800 blood group--stoltzfus system skos:exactMatch hgnc.symbol:SF semapv:UnspecifiedMatching OMIM:112000 blood group--ul system skos:exactMatch MONDO:0020623 semapv:UnspecifiedMatching OMIM:112010 blood group--waldner type skos:exactMatch MONDO:0020624 semapv:UnspecifiedMatching OMIM:112050 blood group--wright antigen skos:exactMatch MONDO:0020625 semapv:UnspecifiedMatching @@ -11771,6 +11806,7 @@ OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:16709 semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch hgnc.symbol:CALCRL semapv:UnspecifiedMatching OMIM:114190 CALCRL skos:exactMatch ncbigene:10203 semapv:UnspecifiedMatching OMIM:114200 camptodactyly 1 skos:exactMatch MONDO:0007250 semapv:UnspecifiedMatching +OMIM:114200 camptodactyly 1 skos:exactMatch hgnc.symbol:CAMPD1 semapv:UnspecifiedMatching OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:1399 semapv:UnspecifiedMatching OMIM:114204 CACNA2D1 skos:exactMatch hgnc.symbol:CACNA2D1 semapv:UnspecifiedMatching OMIM:114204 CACNA2D1 skos:exactMatch ncbigene:781 semapv:UnspecifiedMatching @@ -11830,6 +11866,7 @@ OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:8064 semapv:UnspecifiedMatching OMIM:114350 NUP214 skos:exactMatch hgnc.symbol:NUP214 semapv:UnspecifiedMatching OMIM:114350 NUP214 skos:exactMatch ncbigene:8021 semapv:UnspecifiedMatching OMIM:114450 cancer, familial, with 1n vitro radioresistance skos:exactMatch MONDO:0007253 semapv:UnspecifiedMatching +OMIM:114450 cancer, familial, with 1n vitro radioresistance skos:exactMatch hgnc.symbol:BRCD1 semapv:UnspecifiedMatching OMIM:114480 breast cancer skos:exactMatch MONDO:0016419 semapv:UnspecifiedMatching OMIM:114480 breast cancer skos:exactMatch Orphanet:227535 semapv:UnspecifiedMatching OMIM:114480 breast cancer skos:exactMatch UMLS:C0006142 semapv:UnspecifiedMatching @@ -11845,6 +11882,7 @@ OMIM:114550 hepatocellular carcinoma skos:exactMatch Orphanet:88673 semapv:Unsp OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C0345904 semapv:UnspecifiedMatching OMIM:114550 hepatocellular carcinoma skos:exactMatch UMLS:C2239176 semapv:UnspecifiedMatching OMIM:114580 candidiasis, familial, 1 skos:exactMatch MONDO:0007257 semapv:UnspecifiedMatching +OMIM:114580 candidiasis, familial, 1 skos:exactMatch hgnc.symbol:CANDF1 semapv:UnspecifiedMatching OMIM:114600 canine teeth, absence of upper permanent skos:exactMatch MONDO:0007258 semapv:UnspecifiedMatching OMIM:114610 CNR1 skos:exactMatch UMLS:C1413554 semapv:UnspecifiedMatching OMIM:114610 CNR1 skos:exactMatch hgnc.symbol:2159 semapv:UnspecifiedMatching @@ -11955,10 +11993,14 @@ OMIM:115501 TYRP1 skos:exactMatch hgnc.symbol:TYRP1 semapv:UnspecifiedMatching OMIM:115501 TYRP1 skos:exactMatch ncbigene:7306 semapv:UnspecifiedMatching OMIM:115645 cataract, aberrant oral frenula, and growth retardation skos:exactMatch MONDO:0007277 semapv:UnspecifiedMatching OMIM:115650 cataract 32, multiple types skos:exactMatch MONDO:0007278 semapv:UnspecifiedMatching +OMIM:115650 cataract 32, multiple types skos:exactMatch hgnc.symbol:CTAA1 semapv:UnspecifiedMatching OMIM:115660 cataract 7 skos:exactMatch MONDO:0007279 semapv:UnspecifiedMatching +OMIM:115660 cataract 7 skos:exactMatch hgnc.symbol:CCA1 semapv:UnspecifiedMatching OMIM:115665 cataract 8, multiple types skos:exactMatch MONDO:0007280 semapv:UnspecifiedMatching +OMIM:115665 cataract 8, multiple types skos:exactMatch hgnc.symbol:CCV semapv:UnspecifiedMatching OMIM:115700 cataract 4, multiple types skos:exactMatch MONDO:0007281 semapv:UnspecifiedMatching OMIM:115800 cataract 29 skos:exactMatch MONDO:0007282 semapv:UnspecifiedMatching +OMIM:115800 cataract 29 skos:exactMatch hgnc.symbol:CTRCT29 semapv:UnspecifiedMatching OMIM:115900 cataract 42 skos:exactMatch MONDO:0007283 semapv:UnspecifiedMatching OMIM:116100 cataract 20, multiple types skos:exactMatch MONDO:0007284 semapv:UnspecifiedMatching OMIM:116200 cataract 1, multiple types skos:exactMatch MONDO:0007285 semapv:UnspecifiedMatching @@ -12060,6 +12102,7 @@ OMIM:116948 CDC34 skos:exactMatch ncbigene:997 semapv:UnspecifiedMatching OMIM:116949 CDC25B skos:exactMatch hgnc.symbol:1726 semapv:UnspecifiedMatching OMIM:116949 CDC25B skos:exactMatch hgnc.symbol:CDC25B semapv:UnspecifiedMatching OMIM:116949 CDC25B skos:exactMatch ncbigene:994 semapv:UnspecifiedMatching +OMIM:116950 temperature-sensitive af8 complement skos:exactMatch hgnc.symbol:AF8T semapv:UnspecifiedMatching OMIM:116951 CDK11A skos:exactMatch hgnc.symbol:1730 semapv:UnspecifiedMatching OMIM:116951 CDK11A skos:exactMatch hgnc.symbol:CDK11A semapv:UnspecifiedMatching OMIM:116951 CDK11A skos:exactMatch ncbigene:728642 semapv:UnspecifiedMatching @@ -12087,6 +12130,7 @@ OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to m OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C0751951 semapv:UnspecifiedMatching OMIM:117000 congenital myopathy 1a, autosomal dominant, with susceptibility to malignant hyperthermia skos:exactMatch UMLS:C2674259 semapv:UnspecifiedMatching OMIM:117100 centralopathic epilepsy skos:exactMatch MONDO:0007295 semapv:UnspecifiedMatching +OMIM:117100 centralopathic epilepsy skos:exactMatch hgnc.symbol:ECT semapv:UnspecifiedMatching OMIM:117139 CENPA skos:exactMatch hgnc.symbol:1851 semapv:UnspecifiedMatching OMIM:117139 CENPA skos:exactMatch hgnc.symbol:CENPA semapv:UnspecifiedMatching OMIM:117139 CENPA skos:exactMatch ncbigene:1058 semapv:UnspecifiedMatching @@ -12305,6 +12349,7 @@ OMIM:118990 ITPRID2 skos:exactMatch hgnc.symbol:ITPRID2 semapv:UnspecifiedMatch OMIM:118990 ITPRID2 skos:exactMatch ncbigene:6744 semapv:UnspecifiedMatching OMIM:119000 cleft chin skos:exactMatch MONDO:0007331 semapv:UnspecifiedMatching OMIM:119100 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch MONDO:0007332 semapv:UnspecifiedMatching +OMIM:119100 split-hand/foot malformation with long bone deficiency 1 skos:exactMatch hgnc.symbol:SHFL1 semapv:UnspecifiedMatching OMIM:119300 van der woude syndrome 1 skos:exactMatch MONDO:0007333 semapv:UnspecifiedMatching OMIM:119500 popliteal pterygium syndrome skos:exactMatch MONDO:0007334 semapv:UnspecifiedMatching OMIM:119500 popliteal pterygium syndrome skos:exactMatch Orphanet:1300 semapv:UnspecifiedMatching @@ -12314,6 +12359,7 @@ OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:141291 semapv:Unspecifie OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching OMIM:119530 orofacial cleft 1 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:119530 orofacial cleft 1 skos:exactMatch UMLS:C1861537 semapv:UnspecifiedMatching +OMIM:119530 orofacial cleft 1 skos:exactMatch hgnc.symbol:OFC1 semapv:UnspecifiedMatching OMIM:119540 cleft palate, isolated skos:exactMatch MONDO:0007336 semapv:UnspecifiedMatching OMIM:119550 syngnathia skos:exactMatch MONDO:0007337 semapv:UnspecifiedMatching OMIM:119570 cleft soft palate skos:exactMatch MONDO:0007338 semapv:UnspecifiedMatching @@ -12328,6 +12374,7 @@ OMIM:119915 cluster headache, familial skos:exactMatch MONDO:0007344 semapv:Uns OMIM:120000 coarctation of aorta skos:exactMatch MONDO:0007345 semapv:UnspecifiedMatching OMIM:120040 cochleosaccular degeneration with progressive cataracts skos:exactMatch MONDO:0007346 semapv:UnspecifiedMatching OMIM:120050 coxsackievirus b3 susceptibility skos:exactMatch MONDO:0007347 semapv:UnspecifiedMatching +OMIM:120050 coxsackievirus b3 susceptibility skos:exactMatch hgnc.symbol:CXB3S semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C0241908 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C1332774 semapv:UnspecifiedMatching OMIM:120070 COL4A3 skos:exactMatch UMLS:C4746547 semapv:UnspecifiedMatching @@ -12527,6 +12574,7 @@ OMIM:120470 DCC skos:exactMatch hgnc.symbol:DCC semapv:UnspecifiedMatching OMIM:120470 DCC skos:exactMatch ncbigene:1630 semapv:UnspecifiedMatching OMIM:120500 commissural 51p pits skos:exactMatch MONDO:0007359 semapv:UnspecifiedMatching OMIM:120502 branchiootic syndrome 2 skos:exactMatch MONDO:0007360 semapv:UnspecifiedMatching +OMIM:120502 branchiootic syndrome 2 skos:exactMatch hgnc.symbol:BOS2 semapv:UnspecifiedMatching OMIM:120520 MME skos:exactMatch hgnc.symbol:7154 semapv:UnspecifiedMatching OMIM:120520 MME skos:exactMatch hgnc.symbol:MME semapv:UnspecifiedMatching OMIM:120520 MME skos:exactMatch ncbigene:4311 semapv:UnspecifiedMatching @@ -12643,6 +12691,7 @@ OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch Orphanet:1949 OMIM:121200 seizures, benign familial neonatal, 1 skos:exactMatch UMLS:C3149074 semapv:UnspecifiedMatching OMIM:121201 seizures, benign familial neonatal, 2 skos:exactMatch MONDO:0007366 semapv:UnspecifiedMatching OMIM:121210 febrile seizures, familial, 1 skos:exactMatch MONDO:0007367 semapv:UnspecifiedMatching +OMIM:121210 febrile seizures, familial, 1 skos:exactMatch hgnc.symbol:FEB1 semapv:UnspecifiedMatching OMIM:121270 copper deficiency, familial benign skos:exactMatch MONDO:0007368 semapv:UnspecifiedMatching OMIM:121300 coproporphyria, hereditary skos:exactMatch MONDO:0007369 semapv:UnspecifiedMatching OMIM:121300 coproporphyria, hereditary skos:exactMatch Orphanet:79273 semapv:UnspecifiedMatching @@ -12653,6 +12702,7 @@ OMIM:121360 CBFB skos:exactMatch hgnc.symbol:CBFB semapv:UnspecifiedMatching OMIM:121360 CBFB skos:exactMatch ncbigene:865 semapv:UnspecifiedMatching OMIM:121390 cornea guttata with anterior polar cataracts skos:exactMatch MONDO:0007371 semapv:UnspecifiedMatching OMIM:121400 cornea plana 1, autosomal dominant skos:exactMatch MONDO:0007372 semapv:UnspecifiedMatching +OMIM:121400 cornea plana 1, autosomal dominant skos:exactMatch hgnc.symbol:CNA1 semapv:UnspecifiedMatching OMIM:121450 corneal degeneration, ribbonlike, with deafness skos:exactMatch MONDO:0007373 semapv:UnspecifiedMatching OMIM:121800 schnyder corneal dystrophy skos:exactMatch MONDO:0007374 semapv:UnspecifiedMatching OMIM:121820 corneal dystrophy, epithelial basement membrane skos:exactMatch MONDO:0007375 semapv:UnspecifiedMatching @@ -12676,6 +12726,7 @@ OMIM:122440 corneodermatoosseous syndrome skos:exactMatch MONDO:0007383 semapv: OMIM:122450 corneal hypesthesia, familial skos:exactMatch MONDO:0007384 semapv:UnspecifiedMatching OMIM:122455 coronary artery dissection, spontaneous skos:exactMatch MONDO:0007385 semapv:UnspecifiedMatching OMIM:122460 human coronavirus sensitivity skos:exactMatch MONDO:0007386 semapv:UnspecifiedMatching +OMIM:122460 human coronavirus sensitivity skos:exactMatch hgnc.symbol:HCVS semapv:UnspecifiedMatching OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch MONDO:0007387 semapv:UnspecifiedMatching OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching OMIM:122470 cornelia lange lange syndrome 1 skos:exactMatch UMLS:C0270972 semapv:UnspecifiedMatching @@ -12721,9 +12772,11 @@ OMIM:123150 jackson-weiss syndrome skos:exactMatch MONDO:0007400 semapv:Unspeci OMIM:123150 jackson-weiss syndrome skos:exactMatch Orphanet:1540 semapv:UnspecifiedMatching OMIM:123150 jackson-weiss syndrome skos:exactMatch UMLS:C0795998 semapv:UnspecifiedMatching OMIM:123155 hydrocephalus, autosomal dominant skos:exactMatch MONDO:0007401 semapv:UnspecifiedMatching +OMIM:123155 hydrocephalus, autosomal dominant skos:exactMatch hgnc.symbol:HDCPH1 semapv:UnspecifiedMatching OMIM:123260 CRP skos:exactMatch hgnc.symbol:2367 semapv:UnspecifiedMatching OMIM:123260 CRP skos:exactMatch hgnc.symbol:CRP semapv:UnspecifiedMatching OMIM:123260 CRP skos:exactMatch ncbigene:1401 semapv:UnspecifiedMatching +OMIM:123270 creatine kinase, brain type, ectopic expression of skos:exactMatch hgnc.symbol:CKBE semapv:UnspecifiedMatching OMIM:123280 CKB skos:exactMatch hgnc.symbol:1991 semapv:UnspecifiedMatching OMIM:123280 CKB skos:exactMatch hgnc.symbol:CKB semapv:UnspecifiedMatching OMIM:123280 CKB skos:exactMatch ncbigene:1152 semapv:UnspecifiedMatching @@ -13045,6 +13098,7 @@ OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, a OMIM:125255 DCN skos:exactMatch hgnc.symbol:2705 semapv:UnspecifiedMatching OMIM:125255 DCN skos:exactMatch hgnc.symbol:DCN semapv:UnspecifiedMatching OMIM:125255 DCN skos:exactMatch ncbigene:1634 semapv:UnspecifiedMatching +OMIM:125260 defective interfering particle induction, control of skos:exactMatch hgnc.symbol:VDI semapv:UnspecifiedMatching OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:11458 semapv:UnspecifiedMatching OMIM:125263 SULT2A1 skos:exactMatch hgnc.symbol:SULT2A1 semapv:UnspecifiedMatching OMIM:125263 SULT2A1 skos:exactMatch ncbigene:6822 semapv:UnspecifiedMatching @@ -13086,6 +13140,7 @@ OMIM:125450 DCK skos:exactMatch ncbigene:1633 semapv:UnspecifiedMatching OMIM:125460 deoxyribose-5-phosphate aldolase deficiency skos:exactMatch MONDO:0007439 semapv:UnspecifiedMatching OMIM:125480 major affective disorder 1 skos:exactMatch MONDO:0007440 semapv:UnspecifiedMatching OMIM:125480 major affective disorder 1 skos:exactMatch UMLS:C1852197 semapv:UnspecifiedMatching +OMIM:125480 major affective disorder 1 skos:exactMatch hgnc.symbol:MAFD1 semapv:UnspecifiedMatching OMIM:125485 DSPP skos:exactMatch hgnc.symbol:3054 semapv:UnspecifiedMatching OMIM:125485 DSPP skos:exactMatch hgnc.symbol:DSPP semapv:UnspecifiedMatching OMIM:125485 DSPP skos:exactMatch ncbigene:1834 semapv:UnspecifiedMatching @@ -13095,6 +13150,7 @@ OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:2956 semapv:UnspecifiedMatching OMIM:125505 DNASE1 skos:exactMatch hgnc.symbol:DNASE1 semapv:UnspecifiedMatching OMIM:125505 DNASE1 skos:exactMatch ncbigene:1773 semapv:UnspecifiedMatching OMIM:125520 cayler cardiofacial syndrome skos:exactMatch MONDO:0007443 semapv:UnspecifiedMatching +OMIM:125520 cayler cardiofacial syndrome skos:exactMatch hgnc.symbol:ACF semapv:UnspecifiedMatching OMIM:125540 dermal ridges, patternless skos:exactMatch MONDO:0007444 semapv:UnspecifiedMatching OMIM:125595 dermatopathia pigmentosa reticularis skos:exactMatch MONDO:0007445 semapv:UnspecifiedMatching OMIM:125597 DPT skos:exactMatch hgnc.symbol:3011 semapv:UnspecifiedMatching @@ -13266,10 +13322,12 @@ OMIM:126700 basal laminar drusen skos:exactMatch MONDO:0007472 semapv:Unspecifi OMIM:126700 basal laminar drusen skos:exactMatch Orphanet:75376 semapv:UnspecifiedMatching OMIM:126700 basal laminar drusen skos:exactMatch UMLS:C0730295 semapv:UnspecifiedMatching OMIM:126800 duane retraction syndrome 1 skos:exactMatch MONDO:0024265 semapv:UnspecifiedMatching +OMIM:126800 duane retraction syndrome 1 skos:exactMatch hgnc.symbol:DURS1 semapv:UnspecifiedMatching OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction skos:exactMatch MONDO:0007474 semapv:UnspecifiedMatching OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch MONDO:0007475 semapv:UnspecifiedMatching OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 skos:exactMatch UMLS:C1852008 semapv:UnspecifiedMatching OMIM:126900 dupuytren contracture skos:exactMatch MONDO:0007476 semapv:UnspecifiedMatching +OMIM:126900 dupuytren contracture skos:exactMatch hgnc.symbol:DUPC1 semapv:UnspecifiedMatching OMIM:126950 dwarfism with tall vertebrae skos:exactMatch MONDO:0020792 semapv:UnspecifiedMatching OMIM:127000 kenny-caffey syndrome, type 2 skos:exactMatch MONDO:0007478 semapv:UnspecifiedMatching OMIM:127100 dwarfism, levi type skos:exactMatch MONDO:0007479 semapv:UnspecifiedMatching @@ -13280,6 +13338,7 @@ OMIM:127400 dyschromatosis symmetrica hereditaria skos:exactMatch MONDO:0007483 OMIM:127500 dyschromatosis universalis hereditaria 1 skos:exactMatch MONDO:0024524 semapv:UnspecifiedMatching OMIM:127550 dyskeratosis congenita, autosomal dominant 1 skos:exactMatch MONDO:0007485 semapv:UnspecifiedMatching OMIM:127600 dyskeratosis, hereditary benign intraepithelial skos:exactMatch MONDO:0007486 semapv:UnspecifiedMatching +OMIM:127600 dyskeratosis, hereditary benign intraepithelial skos:exactMatch hgnc.symbol:DKBI semapv:UnspecifiedMatching OMIM:127700 dyslexia, susceptibility to, 1 skos:exactMatch MONDO:0007487 semapv:UnspecifiedMatching OMIM:127750 dementia, lewy body skos:exactMatch MONDO:0007488 semapv:UnspecifiedMatching OMIM:127800 dysplasia epiphysealis hemimelica skos:exactMatch MONDO:0007489 semapv:UnspecifiedMatching @@ -13309,6 +13368,7 @@ OMIM:128300 ear exostoses skos:exactMatch MONDO:0007498 semapv:UnspecifiedMatch OMIM:128500 ear folding skos:exactMatch MONDO:0007499 semapv:UnspecifiedMatching OMIM:128600 ear malformation skos:exactMatch MONDO:0007500 semapv:UnspecifiedMatching OMIM:128700 preauricular fistulae, congenital skos:exactMatch MONDO:0007501 semapv:UnspecifiedMatching +OMIM:128700 preauricular fistulae, congenital skos:exactMatch hgnc.symbol:PAFC semapv:UnspecifiedMatching OMIM:128710 ear pits, posterior helical skos:exactMatch MONDO:0007502 semapv:UnspecifiedMatching OMIM:128800 ear without helix skos:exactMatch MONDO:0007503 semapv:UnspecifiedMatching OMIM:128980 earlobes, thickened, with conductive deafness from incudostapedial abnormalities skos:exactMatch MONDO:0007504 semapv:UnspecifiedMatching @@ -13323,6 +13383,7 @@ OMIM:129010 EGR2 skos:exactMatch hgnc.symbol:3239 semapv:UnspecifiedMatching OMIM:129010 EGR2 skos:exactMatch hgnc.symbol:EGR2 semapv:UnspecifiedMatching OMIM:129010 EGR2 skos:exactMatch ncbigene:1959 semapv:UnspecifiedMatching OMIM:129150 echo virus 11 sensitivity skos:exactMatch MONDO:0007506 semapv:UnspecifiedMatching +OMIM:129150 echo virus 11 sensitivity skos:exactMatch hgnc.symbol:E11S semapv:UnspecifiedMatching OMIM:129190 NT5E skos:exactMatch hgnc.symbol:8021 semapv:UnspecifiedMatching OMIM:129190 NT5E skos:exactMatch hgnc.symbol:NT5E semapv:UnspecifiedMatching OMIM:129190 NT5E skos:exactMatch ncbigene:4907 semapv:UnspecifiedMatching @@ -13347,6 +13408,7 @@ OMIM:129830 ectrodactyly-cleft palate syndrome skos:exactMatch MONDO:0007517 se OMIM:129840 edema, familial idiopathic, prepubertal skos:exactMatch MONDO:0007518 semapv:UnspecifiedMatching OMIM:129850 edinburgh malformation syndrome skos:exactMatch MONDO:0007519 semapv:UnspecifiedMatching OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 skos:exactMatch MONDO:0007520 semapv:UnspecifiedMatching +OMIM:129900 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 skos:exactMatch hgnc.symbol:EEC1 semapv:UnspecifiedMatching OMIM:129905 egasyn skos:exactMatch MONDO:0007521 semapv:UnspecifiedMatching OMIM:130000 ehlers-danlos syndrome, classic type, 1 skos:exactMatch MONDO:0019567 semapv:UnspecifiedMatching OMIM:130010 ehlers-danlos syndrome, classic type, 2 skos:exactMatch MONDO:0019568 semapv:UnspecifiedMatching @@ -13377,6 +13439,7 @@ OMIM:130160 ELN skos:exactMatch UMLS:C3276539 semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch hgnc.symbol:3327 semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch hgnc.symbol:ELN semapv:UnspecifiedMatching OMIM:130160 ELN skos:exactMatch ncbigene:2006 semapv:UnspecifiedMatching +OMIM:130180 electroencephalogram, low-voltage skos:exactMatch hgnc.symbol:EEGV1 semapv:UnspecifiedMatching OMIM:130190 electroencephalographic pattern, beta frequency, quantitative trait locus skos:exactMatch MONDO:0044228 semapv:UnspecifiedMatching OMIM:130200 electroencephalographic peculiarity: 14 and 6 per sec. positive spike phenomenon skos:exactMatch MONDO:0007530 semapv:UnspecifiedMatching OMIM:130300 electroencephalographic peculiarity: fronto-precentral beta wave groups skos:exactMatch MONDO:0007531 semapv:UnspecifiedMatching @@ -13428,6 +13491,7 @@ OMIM:131195 ENG skos:exactMatch hgnc.symbol:3349 semapv:UnspecifiedMatching OMIM:131195 ENG skos:exactMatch hgnc.symbol:ENG semapv:UnspecifiedMatching OMIM:131195 ENG skos:exactMatch ncbigene:2022 semapv:UnspecifiedMatching OMIM:131200 endometriosis, susceptibility to, 1 skos:exactMatch MONDO:0007541 semapv:UnspecifiedMatching +OMIM:131200 endometriosis, susceptibility to, 1 skos:exactMatch hgnc.symbol:ENDO1 semapv:UnspecifiedMatching OMIM:131210 SELE skos:exactMatch hgnc.symbol:10718 semapv:UnspecifiedMatching OMIM:131210 SELE skos:exactMatch hgnc.symbol:SELE semapv:UnspecifiedMatching OMIM:131210 SELE skos:exactMatch ncbigene:6401 semapv:UnspecifiedMatching @@ -13498,6 +13562,7 @@ OMIM:131399 EPX skos:exactMatch hgnc.symbol:3423 semapv:UnspecifiedMatching OMIM:131399 EPX skos:exactMatch hgnc.symbol:EPX semapv:UnspecifiedMatching OMIM:131399 EPX skos:exactMatch ncbigene:8288 semapv:UnspecifiedMatching OMIM:131400 eosinophilia, familial skos:exactMatch MONDO:0007544 semapv:UnspecifiedMatching +OMIM:131400 eosinophilia, familial skos:exactMatch hgnc.symbol:EOS semapv:UnspecifiedMatching OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:10045 semapv:UnspecifiedMatching OMIM:131410 RNASE2 skos:exactMatch hgnc.symbol:RNASE2 semapv:UnspecifiedMatching OMIM:131410 RNASE2 skos:exactMatch ncbigene:6036 semapv:UnspecifiedMatching @@ -13534,6 +13599,7 @@ OMIM:131960 epidermolysis bullosa simplex 2f, with mottled pigmentation skos:exa OMIM:132000 epidermolysis bullosa with congenital localized absence of skin and deformity of nails skos:exactMatch MONDO:0007557 semapv:UnspecifiedMatching OMIM:132090 epilepsy, benign occipital skos:exactMatch MONDO:0007558 semapv:UnspecifiedMatching OMIM:132100 photoparoxysmal response 1 skos:exactMatch MONDO:0007559 semapv:UnspecifiedMatching +OMIM:132100 photoparoxysmal response 1 skos:exactMatch hgnc.symbol:PPR1 semapv:UnspecifiedMatching OMIM:132300 epilepsy, reading skos:exactMatch MONDO:0007560 semapv:UnspecifiedMatching OMIM:132350 STX2 skos:exactMatch hgnc.symbol:3403 semapv:UnspecifiedMatching OMIM:132350 STX2 skos:exactMatch hgnc.symbol:STX2 semapv:UnspecifiedMatching @@ -13716,6 +13782,7 @@ OMIM:134690 FAU skos:exactMatch hgnc.symbol:3597 semapv:UnspecifiedMatching OMIM:134690 FAU skos:exactMatch hgnc.symbol:FAU semapv:UnspecifiedMatching OMIM:134690 FAU skos:exactMatch ncbigene:2197 semapv:UnspecifiedMatching OMIM:134700 skos:exactMatch MONDO:0007602 semapv:UnspecifiedMatching +OMIM:134720 fecundity gene, booroola, of sheep, homolog of skos:exactMatch hgnc.symbol:FECB semapv:UnspecifiedMatching OMIM:134750 felty syndrome skos:exactMatch MONDO:0007603 semapv:UnspecifiedMatching OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:3976 semapv:UnspecifiedMatching OMIM:134770 FTH1 skos:exactMatch hgnc.symbol:FTH1 semapv:UnspecifiedMatching @@ -13957,6 +14024,7 @@ OMIM:137070 FUS skos:exactMatch hgnc.symbol:4010 semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch hgnc.symbol:FUS semapv:UnspecifiedMatching OMIM:137070 FUS skos:exactMatch ncbigene:2521 semapv:UnspecifiedMatching OMIM:137100 immunoglobulin a deficiency 1 skos:exactMatch MONDO:0007644 semapv:UnspecifiedMatching +OMIM:137100 immunoglobulin a deficiency 1 skos:exactMatch hgnc.symbol:IGAD1 semapv:UnspecifiedMatching OMIM:137130 gastric sneezing skos:exactMatch MONDO:0007645 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch UMLS:C1414909 semapv:UnspecifiedMatching OMIM:137140 GABRA2 skos:exactMatch UMLS:C4016111 semapv:UnspecifiedMatching @@ -14128,6 +14196,7 @@ OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:e OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C1841989 semapv:UnspecifiedMatching OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome skos:exactMatch UMLS:C4317151 semapv:UnspecifiedMatching OMIM:137950 glomerulopathy with fibronectin deposits 1 skos:exactMatch MONDO:0024527 semapv:UnspecifiedMatching +OMIM:137950 glomerulopathy with fibronectin deposits 1 skos:exactMatch hgnc.symbol:GFND1 semapv:UnspecifiedMatching OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:7224 semapv:UnspecifiedMatching OMIM:137960 MPV17 skos:exactMatch hgnc.symbol:MPV17 semapv:UnspecifiedMatching OMIM:137960 MPV17 skos:exactMatch ncbigene:4358 semapv:UnspecifiedMatching @@ -14567,6 +14636,7 @@ OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:GUCY1B1 semapv:UnspecifiedMatch OMIM:139397 GUCY1B3 skos:exactMatch ncbigene:2983 semapv:UnspecifiedMatching OMIM:139400 hair whorl skos:exactMatch MONDO:0044233 semapv:UnspecifiedMatching OMIM:139450 hair morphology 2 skos:exactMatch MONDO:0044234 semapv:UnspecifiedMatching +OMIM:139450 hair morphology 2 skos:exactMatch hgnc.symbol:HRM2 semapv:UnspecifiedMatching OMIM:139500 hairy ears skos:exactMatch MONDO:0007692 semapv:UnspecifiedMatching OMIM:139600 hairy elbows skos:exactMatch MONDO:0007693 semapv:UnspecifiedMatching OMIM:139605 HES1 skos:exactMatch UMLS:C1415725 semapv:UnspecifiedMatching @@ -14578,6 +14648,7 @@ OMIM:139650 hairy palms and soles skos:exactMatch MONDO:0007695 semapv:Unspecif OMIM:139750 hand and foot deformity with flat facies skos:exactMatch MONDO:0007696 semapv:UnspecifiedMatching OMIM:139800 hand clasping pattern skos:exactMatch MONDO:0007697 semapv:UnspecifiedMatching OMIM:139900 hand skill, relative skos:exactMatch MONDO:0044235 semapv:UnspecifiedMatching +OMIM:139900 hand skill, relative skos:exactMatch hgnc.symbol:HSR semapv:UnspecifiedMatching OMIM:140000 hand-foot-genital syndrome skos:exactMatch MONDO:0007698 semapv:UnspecifiedMatching OMIM:140000 hand-foot-genital syndrome skos:exactMatch Orphanet:2438 semapv:UnspecifiedMatching OMIM:140000 hand-foot-genital syndrome skos:exactMatch UMLS:C1841679 semapv:UnspecifiedMatching @@ -14592,10 +14663,12 @@ OMIM:140210 HPR skos:exactMatch hgnc.symbol:5156 semapv:UnspecifiedMatching OMIM:140210 HPR skos:exactMatch hgnc.symbol:HPR semapv:UnspecifiedMatching OMIM:140210 HPR skos:exactMatch ncbigene:3250 semapv:UnspecifiedMatching OMIM:140300 hashimoto thyroiditis skos:exactMatch MONDO:0007699 semapv:UnspecifiedMatching +OMIM:140300 hashimoto thyroiditis skos:exactMatch hgnc.symbol:HT semapv:UnspecifiedMatching OMIM:140350 hawkinsinuria skos:exactMatch MONDO:0007700 semapv:UnspecifiedMatching OMIM:140350 hawkinsinuria skos:exactMatch Orphanet:2118 semapv:UnspecifiedMatching OMIM:140350 hawkinsinuria skos:exactMatch UMLS:C2931042 semapv:UnspecifiedMatching OMIM:140400 progressive familial heart block, type 2 skos:exactMatch MONDO:0007701 semapv:UnspecifiedMatching +OMIM:140400 progressive familial heart block, type 2 skos:exactMatch hgnc.symbol:PFHB2 semapv:UnspecifiedMatching OMIM:140450 heart-hand syndrome, spanish type skos:exactMatch MONDO:0007702 semapv:UnspecifiedMatching OMIM:140500 heart, malformation of skos:exactMatch MONDO:0009327 semapv:UnspecifiedMatching OMIM:140550 HSPA1A skos:exactMatch hgnc.symbol:5232 semapv:UnspecifiedMatching @@ -14653,6 +14726,7 @@ OMIM:141251 HMOX2 skos:exactMatch ncbigene:3163 semapv:UnspecifiedMatching OMIM:141300 hemifacial atrophy, progressive skos:exactMatch MONDO:0007710 semapv:UnspecifiedMatching OMIM:141350 hemifacial hyperplasia with strabismus skos:exactMatch MONDO:0007711 semapv:UnspecifiedMatching OMIM:141400 hemifacial microsomia with radial defects skos:exactMatch MONDO:0007712 semapv:UnspecifiedMatching +OMIM:141400 hemifacial microsomia with radial defects skos:exactMatch hgnc.symbol:GHS semapv:UnspecifiedMatching OMIM:141405 hemifacial spasm, familial skos:exactMatch MONDO:0007713 semapv:UnspecifiedMatching OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch MONDO:0020756 semapv:UnspecifiedMatching OMIM:141500 migraine, familial hemiplegic, 1 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching @@ -14744,7 +14818,9 @@ OMIM:142310 HBZ skos:exactMatch hgnc.symbol:4835 semapv:UnspecifiedMatching OMIM:142310 HBZ skos:exactMatch hgnc.symbol:HBZ semapv:UnspecifiedMatching OMIM:142310 HBZ skos:exactMatch ncbigene:3050 semapv:UnspecifiedMatching OMIM:142330 hepatic adenomas, familial skos:exactMatch MONDO:0007718 semapv:UnspecifiedMatching +OMIM:142335 fetal hemoglobin quantitative trait locus 5 skos:exactMatch hgnc.symbol:HPFH2 semapv:UnspecifiedMatching OMIM:142340 diaphragmatic hernia, congenital skos:exactMatch MONDO:0007719 semapv:UnspecifiedMatching +OMIM:142340 diaphragmatic hernia, congenital skos:exactMatch hgnc.symbol:DIH1 semapv:UnspecifiedMatching OMIM:142350 hernia, double inguinal skos:exactMatch MONDO:0007720 semapv:UnspecifiedMatching OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:4838 semapv:UnspecifiedMatching OMIM:142360 HCF2 skos:exactMatch hgnc.symbol:SERPIND1 semapv:UnspecifiedMatching @@ -14790,6 +14866,7 @@ OMIM:142461 HSPG2 skos:exactMatch UMLS:C4551479 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:5273 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch hgnc.symbol:HSPG2 semapv:UnspecifiedMatching OMIM:142461 HSPG2 skos:exactMatch ncbigene:3339 semapv:UnspecifiedMatching +OMIM:142470 fetal hemoglobin quantitative trait locus 2 skos:exactMatch hgnc.symbol:HBFQTL2 semapv:UnspecifiedMatching OMIM:142500 heterochromia iridis skos:exactMatch MONDO:0007722 semapv:UnspecifiedMatching OMIM:142560 DDX39B skos:exactMatch UMLS:C1422269 semapv:UnspecifiedMatching OMIM:142560 DDX39B skos:exactMatch hgnc.symbol:13917 semapv:UnspecifiedMatching @@ -14837,6 +14914,7 @@ OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:4857 semapv:UnspecifiedMatching OMIM:142695 HDLBP skos:exactMatch hgnc.symbol:HDLBP semapv:UnspecifiedMatching OMIM:142695 HDLBP skos:exactMatch ncbigene:3069 semapv:UnspecifiedMatching OMIM:142700 developmental dysplasia of the hip 1 skos:exactMatch MONDO:0007729 semapv:UnspecifiedMatching +OMIM:142700 developmental dysplasia of the hip 1 skos:exactMatch hgnc.symbol:ACTD semapv:UnspecifiedMatching OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:5283 semapv:UnspecifiedMatching OMIM:142701 HTN1 skos:exactMatch hgnc.symbol:HTN1 semapv:UnspecifiedMatching OMIM:142701 HTN1 skos:exactMatch ncbigene:3346 semapv:UnspecifiedMatching @@ -15114,6 +15192,7 @@ OMIM:143465 attention deficit-hyperactivity disorder skos:exactMatch UMLS:C12638 OMIM:143470 hyperalphalipoproteinemia 1 skos:exactMatch MONDO:0007744 semapv:UnspecifiedMatching OMIM:143500 gilbert syndrome skos:exactMatch MONDO:0007745 semapv:UnspecifiedMatching OMIM:143850 orthostatic hypotensive disorder, streeten type skos:exactMatch MONDO:0007746 semapv:UnspecifiedMatching +OMIM:143850 orthostatic hypotensive disorder, streeten type skos:exactMatch hgnc.symbol:OHDS semapv:UnspecifiedMatching OMIM:143860 hyperchlorhidrosis, isolated skos:exactMatch MONDO:0007747 semapv:UnspecifiedMatching OMIM:143870 hypercalciuria, absorptive, 2 skos:exactMatch MONDO:0007748 semapv:UnspecifiedMatching OMIM:143880 hypercalcemia, infantile, 1 skos:exactMatch MONDO:0020739 semapv:UnspecifiedMatching @@ -15129,8 +15208,10 @@ OMIM:144020 hypercholesterolemia suppressor skos:exactMatch MONDO:0044237 semap OMIM:144050 hyperheparinemia skos:exactMatch MONDO:0007752 semapv:UnspecifiedMatching OMIM:144100 hyperhidrosis, gustatory skos:exactMatch MONDO:0007753 semapv:UnspecifiedMatching OMIM:144110 hyperhidrosis palmaris et plantaris skos:exactMatch MONDO:0007754 semapv:UnspecifiedMatching +OMIM:144110 hyperhidrosis palmaris et plantaris skos:exactMatch hgnc.symbol:HHPP semapv:UnspecifiedMatching OMIM:144120 hyperimmunoglobulin g1(a1) syndrome skos:exactMatch MONDO:0007755 semapv:UnspecifiedMatching OMIM:144150 hyperkeratosis lenticularis perstans skos:exactMatch MONDO:0007756 semapv:UnspecifiedMatching +OMIM:144150 hyperkeratosis lenticularis perstans skos:exactMatch hgnc.symbol:HLP semapv:UnspecifiedMatching OMIM:144190 hyperkeratosis-hyperpigmentation syndrome skos:exactMatch MONDO:0007757 semapv:UnspecifiedMatching OMIM:144200 palmoplantar keratoderma, epidermolytic, 1 skos:exactMatch MONDO:0007758 semapv:UnspecifiedMatching OMIM:144250 hyperlipidemia, familial combined, 3 skos:exactMatch MONDO:0007759 semapv:UnspecifiedMatching @@ -15153,8 +15234,10 @@ OMIM:145100 hyperpigmentation of eyelids skos:exactMatch MONDO:0007769 semapv:U OMIM:145200 hyperpigmentation of fuldauer and kuijpers skos:exactMatch MONDO:0007770 semapv:UnspecifiedMatching OMIM:145250 hyperpigmentation with or without hypopigmentation, familial progressive skos:exactMatch MONDO:0007771 semapv:UnspecifiedMatching OMIM:145260 pseudohypoaldosteronism, type 2a skos:exactMatch MONDO:0007772 semapv:UnspecifiedMatching +OMIM:145260 pseudohypoaldosteronism, type 2a skos:exactMatch hgnc.symbol:PHA2A semapv:UnspecifiedMatching OMIM:145270 hyperproglucagonemia skos:exactMatch MONDO:0007773 semapv:UnspecifiedMatching OMIM:145290 hyperreflexia skos:exactMatch MONDO:0007774 semapv:UnspecifiedMatching +OMIM:145290 hyperreflexia skos:exactMatch hgnc.symbol:HRX semapv:UnspecifiedMatching OMIM:145295 hypersecretion of adrenal androgens, familial skos:exactMatch MONDO:0007775 semapv:UnspecifiedMatching OMIM:145300 hypersensitivity pneumonitis, familial skos:exactMatch MONDO:0007776 semapv:UnspecifiedMatching OMIM:145350 hypotaurinemic retinal degeneration and cardiomyopathy skos:exactMatch MONDO:0007777 semapv:UnspecifiedMatching @@ -15176,6 +15259,7 @@ OMIM:145650 thyroid hormone resistance, selective pituitary skos:exactMatch UMLS OMIM:145680 hyperthyroxinemia, dystransthyretinemic skos:exactMatch MONDO:0007785 semapv:UnspecifiedMatching OMIM:145700 hypertrichosis lanuginosa congenita skos:exactMatch MONDO:0016381 semapv:UnspecifiedMatching OMIM:145701 hypertrichosis universalis congenita, ambras type skos:exactMatch MONDO:0007787 semapv:UnspecifiedMatching +OMIM:145701 hypertrichosis universalis congenita, ambras type skos:exactMatch hgnc.symbol:HTC1 semapv:UnspecifiedMatching OMIM:145750 hypertriglyceridemia 1 skos:exactMatch MONDO:0007788 semapv:UnspecifiedMatching OMIM:145800 hypertrophia musculorum vera skos:exactMatch MONDO:0007789 semapv:UnspecifiedMatching OMIM:145900 hypertrophic neuropathy of dejerine-sottas skos:exactMatch MONDO:0007790 semapv:UnspecifiedMatching @@ -15206,9 +15290,12 @@ OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:247685 semapv:Unsp OMIM:146300 hypophosphatasia, adult skos:exactMatch Orphanet:436 semapv:UnspecifiedMatching OMIM:146300 hypophosphatasia, adult skos:exactMatch UMLS:C0268413 semapv:UnspecifiedMatching OMIM:146350 hypophosphatemic bone disease skos:exactMatch MONDO:0007799 semapv:UnspecifiedMatching +OMIM:146350 hypophosphatemic bone disease skos:exactMatch hgnc.symbol:4829 semapv:UnspecifiedMatching +OMIM:146350 hypophosphatemic bone disease skos:exactMatch hgnc.symbol:HBD semapv:UnspecifiedMatching OMIM:146390 chromosome 18p deletion syndrome skos:exactMatch MONDO:0007800 semapv:UnspecifiedMatching OMIM:146400 skos:exactMatch MONDO:0007801 semapv:UnspecifiedMatching OMIM:146450 hypospadias 3, autosomal skos:exactMatch MONDO:0007802 semapv:UnspecifiedMatching +OMIM:146450 hypospadias 3, autosomal skos:exactMatch hgnc.symbol:HYSP3 semapv:UnspecifiedMatching OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch MONDO:0020715 semapv:UnspecifiedMatching OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch Orphanet:102 semapv:UnspecifiedMatching OMIM:146500 multiple system atrophy 1, susceptibility to skos:exactMatch UMLS:C3714927 semapv:UnspecifiedMatching @@ -15308,8 +15395,10 @@ OMIM:146790 FCGR2A skos:exactMatch ncbigene:2212 semapv:UnspecifiedMatching OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch MONDO:0007813 semapv:UnspecifiedMatching OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch Orphanet:455 semapv:UnspecifiedMatching OMIM:146800 ichthyosis bullosa of siemens skos:exactMatch UMLS:C0432306 semapv:UnspecifiedMatching +OMIM:146820 immune response to synthetic polypeptide--irgat skos:exactMatch hgnc.symbol:IGAT semapv:UnspecifiedMatching OMIM:146830 immune deficiency, familial variable skos:exactMatch MONDO:0007814 semapv:UnspecifiedMatching OMIM:146850 immune suppression skos:exactMatch MONDO:0007816 semapv:UnspecifiedMatching +OMIM:146850 immune suppression skos:exactMatch hgnc.symbol:ISCW semapv:UnspecifiedMatching OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:4942 semapv:UnspecifiedMatching OMIM:146880 HLA-DQA1 skos:exactMatch hgnc.symbol:HLA-DQA1 semapv:UnspecifiedMatching OMIM:146880 HLA-DQA1 skos:exactMatch ncbigene:3117 semapv:UnspecifiedMatching @@ -15361,9 +15450,12 @@ OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C2936739 semapv:UnspecifiedMatching OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C3887645 semapv:UnspecifiedMatching OMIM:147060 hyper-ige syndrome 1, autosomal dominant, with recurrent infections skos:exactMatch UMLS:C4721531 semapv:UnspecifiedMatching +OMIM:147061 immunoglobulin e concentration, serum skos:exactMatch hgnc.symbol:IGES semapv:UnspecifiedMatching OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:5477 semapv:UnspecifiedMatching OMIM:147070 IGHV@ skos:exactMatch hgnc.symbol:IGH semapv:UnspecifiedMatching OMIM:147070 IGHV@ skos:exactMatch ncbigene:3492 semapv:UnspecifiedMatching +OMIM:147080 immune response to synthetic polypeptide--irglphe 1 skos:exactMatch hgnc.symbol:IGLP1 semapv:UnspecifiedMatching +OMIM:147090 immune response to synthetic polypeptide--irglphe 2 skos:exactMatch hgnc.symbol:IGLP2 semapv:UnspecifiedMatching OMIM:147100 IGHG1 skos:exactMatch UMLS:C1415978 semapv:UnspecifiedMatching OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:5525 semapv:UnspecifiedMatching OMIM:147100 IGHG1 skos:exactMatch hgnc.symbol:IGHG1 semapv:UnspecifiedMatching @@ -15893,6 +15985,7 @@ OMIM:148800 kleeblattschaedel skos:exactMatch MONDO:0007861 semapv:UnspecifiedM OMIM:148820 waardenburg syndrome, type 3 skos:exactMatch MONDO:0007862 semapv:UnspecifiedMatching OMIM:148840 kleine-levin hibernation syndrome skos:exactMatch MONDO:0007863 semapv:UnspecifiedMatching OMIM:149000 klippel-trenaunay-weber syndrome skos:exactMatch MONDO:0007864 semapv:UnspecifiedMatching +OMIM:149000 klippel-trenaunay-weber syndrome skos:exactMatch hgnc.symbol:KTWS semapv:UnspecifiedMatching OMIM:149100 knuckle pads skos:exactMatch MONDO:0007865 semapv:UnspecifiedMatching OMIM:149100 knuckle pads skos:exactMatch UMLS:C0264000 semapv:UnspecifiedMatching OMIM:149200 bart-pumphrey syndrome skos:exactMatch MONDO:0007866 semapv:UnspecifiedMatching @@ -15939,6 +16032,7 @@ OMIM:150240 LAMB1 skos:exactMatch ncbigene:3912 semapv:UnspecifiedMatching OMIM:150250 larsen syndrome skos:exactMatch MONDO:0007875 semapv:UnspecifiedMatching OMIM:150260 laryngeal abductor paralysis skos:exactMatch MONDO:0007876 semapv:UnspecifiedMatching OMIM:150270 laryngeal adductor paralysis skos:exactMatch MONDO:0007877 semapv:UnspecifiedMatching +OMIM:150270 laryngeal adductor paralysis skos:exactMatch hgnc.symbol:LAP semapv:UnspecifiedMatching OMIM:150280 laryngomalacia skos:exactMatch MONDO:0007878 semapv:UnspecifiedMatching OMIM:150290 LAMC1 skos:exactMatch hgnc.symbol:6492 semapv:UnspecifiedMatching OMIM:150290 LAMC1 skos:exactMatch hgnc.symbol:LAMC1 semapv:UnspecifiedMatching @@ -16011,6 +16105,7 @@ OMIM:150800 hereditary leiomyomatosis and renal cell cancer skos:exactMatch UMLS OMIM:150900 lentigines skos:exactMatch MONDO:0021582 semapv:UnspecifiedMatching OMIM:151000 lentiginosis, centrofacial neurodysraphic skos:exactMatch MONDO:0007890 semapv:UnspecifiedMatching OMIM:151001 lentiginosis, inherited patterned skos:exactMatch MONDO:0007891 semapv:UnspecifiedMatching +OMIM:151001 lentiginosis, inherited patterned skos:exactMatch hgnc.symbol:LOC619539 semapv:UnspecifiedMatching OMIM:151050 lenz-majewski hyperostotic dwarfism skos:exactMatch MONDO:0007892 semapv:UnspecifiedMatching OMIM:151100 leopard syndrome 1 skos:exactMatch MONDO:0100082 semapv:UnspecifiedMatching OMIM:151100 leopard syndrome 1 skos:exactMatch Orphanet:500 semapv:UnspecifiedMatching @@ -16026,6 +16121,7 @@ OMIM:151290 B3GAT1 skos:exactMatch ncbigene:27087 semapv:UnspecifiedMatching OMIM:151300 LNPEP skos:exactMatch hgnc.symbol:6656 semapv:UnspecifiedMatching OMIM:151300 LNPEP skos:exactMatch hgnc.symbol:LNPEP semapv:UnspecifiedMatching OMIM:151300 LNPEP skos:exactMatch ncbigene:4012 semapv:UnspecifiedMatching +OMIM:151310 LEUT skos:exactMatch hgnc.symbol:HTL semapv:UnspecifiedMatching OMIM:151310 LEUT skos:exactMatch ncbigene:3343 semapv:UnspecifiedMatching OMIM:151350 LARS1 skos:exactMatch UMLS:C1416799 semapv:UnspecifiedMatching OMIM:151350 LARS1 skos:exactMatch UMLS:C3809522 semapv:UnspecifiedMatching @@ -16047,6 +16143,7 @@ OMIM:151430 BCL2 skos:exactMatch ncbigene:596 semapv:UnspecifiedMatching OMIM:151440 LYL1 skos:exactMatch hgnc.symbol:6734 semapv:UnspecifiedMatching OMIM:151440 LYL1 skos:exactMatch hgnc.symbol:LYL1 semapv:UnspecifiedMatching OMIM:151440 LYL1 skos:exactMatch ncbigene:4066 semapv:UnspecifiedMatching +OMIM:151441 BCL5 skos:exactMatch hgnc.symbol:BCL5 semapv:UnspecifiedMatching OMIM:151441 BCL5 skos:exactMatch ncbigene:603 semapv:UnspecifiedMatching OMIM:151442 STMN1 skos:exactMatch hgnc.symbol:6510 semapv:UnspecifiedMatching OMIM:151442 STMN1 skos:exactMatch hgnc.symbol:STMN1 semapv:UnspecifiedMatching @@ -16057,6 +16154,7 @@ OMIM:151443 LIFR skos:exactMatch ncbigene:3977 semapv:UnspecifiedMatching OMIM:151445 FCER2 skos:exactMatch hgnc.symbol:3612 semapv:UnspecifiedMatching OMIM:151445 FCER2 skos:exactMatch hgnc.symbol:FCER2 semapv:UnspecifiedMatching OMIM:151445 FCER2 skos:exactMatch ncbigene:2208 semapv:UnspecifiedMatching +OMIM:151450 leukocyte antigen group five skos:exactMatch hgnc.symbol:LAG5 semapv:UnspecifiedMatching OMIM:151460 PTPRC skos:exactMatch hgnc.symbol:9666 semapv:UnspecifiedMatching OMIM:151460 PTPRC skos:exactMatch hgnc.symbol:PTPRC semapv:UnspecifiedMatching OMIM:151460 PTPRC skos:exactMatch ncbigene:5788 semapv:UnspecifiedMatching @@ -16151,6 +16249,7 @@ OMIM:152425 ACSL1 skos:exactMatch ncbigene:2180 semapv:UnspecifiedMatching OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:6251 semapv:UnspecifiedMatching OMIM:152427 KCNH2 skos:exactMatch hgnc.symbol:KCNH2 semapv:UnspecifiedMatching OMIM:152427 KCNH2 skos:exactMatch ncbigene:3757 semapv:UnspecifiedMatching +OMIM:152430 longevity 1 skos:exactMatch hgnc.symbol:LGV1 semapv:UnspecifiedMatching OMIM:152445 LOR skos:exactMatch hgnc.symbol:6663 semapv:UnspecifiedMatching OMIM:152445 LOR skos:exactMatch hgnc.symbol:LORICRIN semapv:UnspecifiedMatching OMIM:152445 LOR skos:exactMatch ncbigene:4014 semapv:UnspecifiedMatching @@ -16222,6 +16321,7 @@ OMIM:153432 LSP1 skos:exactMatch UMLS:C1416925 semapv:UnspecifiedMatching OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:6707 semapv:UnspecifiedMatching OMIM:153432 LSP1 skos:exactMatch hgnc.symbol:LSP1 semapv:UnspecifiedMatching OMIM:153432 LSP1 skos:exactMatch ncbigene:4046 semapv:UnspecifiedMatching +OMIM:153435 LAKL skos:exactMatch hgnc.symbol:LAKLG semapv:UnspecifiedMatching OMIM:153435 LAKL skos:exactMatch ncbigene:3905 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C0812308 semapv:UnspecifiedMatching OMIM:153440 LTA skos:exactMatch UMLS:C1832662 semapv:UnspecifiedMatching @@ -16275,8 +16375,10 @@ OMIM:153700 macular dystrophy, vitelliform, 2 skos:exactMatch MONDO:0007931 sem OMIM:153800 macular degeneration, age-related, 2 skos:exactMatch MONDO:0007932 semapv:UnspecifiedMatching OMIM:153800 macular degeneration, age-related, 2 skos:exactMatch UMLS:C3495438 semapv:UnspecifiedMatching OMIM:153840 macular dystrophy, vitelliform, 1 skos:exactMatch MONDO:0007933 semapv:UnspecifiedMatching +OMIM:153840 macular dystrophy, vitelliform, 1 skos:exactMatch hgnc.symbol:VMD1 semapv:UnspecifiedMatching OMIM:153870 retinitis pigmentosa 91 skos:exactMatch MONDO:0007934 semapv:UnspecifiedMatching OMIM:153880 macular dystrophy, dominant cystoid skos:exactMatch MONDO:0007935 semapv:UnspecifiedMatching +OMIM:153880 macular dystrophy, dominant cystoid skos:exactMatch hgnc.symbol:CYMD semapv:UnspecifiedMatching OMIM:153890 macular dystrophy, fenestrated sheen type skos:exactMatch MONDO:0007936 semapv:UnspecifiedMatching OMIM:154020 hypomagnesemia 2, renal skos:exactMatch MONDO:0007937 semapv:UnspecifiedMatching OMIM:154030 YBX1 skos:exactMatch hgnc.symbol:8014 semapv:UnspecifiedMatching @@ -16312,7 +16414,10 @@ OMIM:154270 ME2 skos:exactMatch hgnc.symbol:6984 semapv:UnspecifiedMatching OMIM:154270 ME2 skos:exactMatch hgnc.symbol:ME2 semapv:UnspecifiedMatching OMIM:154270 ME2 skos:exactMatch ncbigene:4200 semapv:UnspecifiedMatching OMIM:154275 malignant hyperthermia, susceptibility to, 2 skos:exactMatch MONDO:0007939 semapv:UnspecifiedMatching +OMIM:154275 malignant hyperthermia, susceptibility to, 2 skos:exactMatch hgnc.symbol:MHS2 semapv:UnspecifiedMatching OMIM:154276 malignant hyperthermia, susceptibility to, 3 skos:exactMatch MONDO:0007940 semapv:UnspecifiedMatching +OMIM:154276 malignant hyperthermia, susceptibility to, 3 skos:exactMatch hgnc.symbol:MHS3 semapv:UnspecifiedMatching +OMIM:154280 SAI1 skos:exactMatch hgnc.symbol:SAI1 semapv:UnspecifiedMatching OMIM:154280 SAI1 skos:exactMatch ncbigene:6298 semapv:UnspecifiedMatching OMIM:154300 malocclusion due to protuberant upper front teeth skos:exactMatch MONDO:0007941 semapv:UnspecifiedMatching OMIM:154360 MGAM skos:exactMatch hgnc.symbol:7043 semapv:UnspecifiedMatching @@ -16405,6 +16510,7 @@ OMIM:155555 MC1R skos:exactMatch hgnc.symbol:6929 semapv:UnspecifiedMatching OMIM:155555 MC1R skos:exactMatch hgnc.symbol:MC1R semapv:UnspecifiedMatching OMIM:155555 MC1R skos:exactMatch ncbigene:4157 semapv:UnspecifiedMatching OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch MONDO:0007963 semapv:UnspecifiedMatching +OMIM:155600 melanoma, cutaneous malignant, susceptibility to, 1 skos:exactMatch hgnc.symbol:CMM semapv:UnspecifiedMatching OMIM:155601 melanoma, cutaneous malignant, susceptibility to, 2 skos:exactMatch MONDO:0007964 semapv:UnspecifiedMatching OMIM:155700 melanoma, malignant familial intraocular skos:exactMatch MONDO:0007965 semapv:UnspecifiedMatching OMIM:155720 melanoma, uveal skos:exactMatch MONDO:0006486 semapv:UnspecifiedMatching @@ -16426,6 +16532,7 @@ OMIM:155760 ACAN skos:exactMatch hgnc.symbol:ACAN semapv:UnspecifiedMatching OMIM:155760 ACAN skos:exactMatch ncbigene:176 semapv:UnspecifiedMatching OMIM:155770 melanoma tumor antigen gp90 skos:exactMatch MONDO:0007968 semapv:UnspecifiedMatching OMIM:155900 melkersson-rosenthal syndrome skos:exactMatch MONDO:0007969 semapv:UnspecifiedMatching +OMIM:155900 melkersson-rosenthal syndrome skos:exactMatch hgnc.symbol:MROS semapv:UnspecifiedMatching OMIM:155950 melorheostosis, isolated skos:exactMatch MONDO:0007970 semapv:UnspecifiedMatching OMIM:155950 melorheostosis, isolated skos:exactMatch Orphanet:2485 semapv:UnspecifiedMatching OMIM:155950 melorheostosis, isolated skos:exactMatch UMLS:C3149631 semapv:UnspecifiedMatching @@ -16540,6 +16647,7 @@ OMIM:156845 MITF skos:exactMatch hgnc.symbol:7105 semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch hgnc.symbol:MITF semapv:UnspecifiedMatching OMIM:156845 MITF skos:exactMatch ncbigene:4286 semapv:UnspecifiedMatching OMIM:156850 microphthalmia, isolated, with cataract 1 skos:exactMatch MONDO:0007995 semapv:UnspecifiedMatching +OMIM:156850 microphthalmia, isolated, with cataract 1 skos:exactMatch hgnc.symbol:MCOPCT1 semapv:UnspecifiedMatching OMIM:156900 microphthalmia, isolated, with corectopia skos:exactMatch MONDO:0007996 semapv:UnspecifiedMatching OMIM:157129 MAP1B skos:exactMatch UMLS:C1417004 semapv:UnspecifiedMatching OMIM:157129 MAP1B skos:exactMatch UMLS:C5394503 semapv:UnspecifiedMatching @@ -16572,6 +16680,7 @@ OMIM:157151 microspherophakia-metaphyseal dysplasia skos:exactMatch MONDO:000799 OMIM:157170 holoprosencephaly 2 skos:exactMatch MONDO:0007999 semapv:UnspecifiedMatching OMIM:157200 midphalangeal hair skos:exactMatch MONDO:0023807 semapv:UnspecifiedMatching OMIM:157300 migraine with or without aura, susceptibility to, 1 skos:exactMatch MONDO:0008000 semapv:UnspecifiedMatching +OMIM:157300 migraine with or without aura, susceptibility to, 1 skos:exactMatch hgnc.symbol:MGR1 semapv:UnspecifiedMatching OMIM:157400 milia, multiple eruptive skos:exactMatch MONDO:0008001 semapv:UnspecifiedMatching OMIM:157560 minisatellite 33.6 skos:exactMatch UMLS:C1834872 semapv:UnspecifiedMatching OMIM:157570 minisatellite 33.15 skos:exactMatch UMLS:C1834871 semapv:UnspecifiedMatching @@ -16592,12 +16701,14 @@ OMIM:157700 mitral valve prolapse 1 skos:exactMatch MONDO:0024529 semapv:Unspec OMIM:157700 mitral valve prolapse 1 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C0340364 semapv:UnspecifiedMatching OMIM:157700 mitral valve prolapse 1 skos:exactMatch UMLS:C1834819 semapv:UnspecifiedMatching +OMIM:157700 mitral valve prolapse 1 skos:exactMatch hgnc.symbol:MMVP1 semapv:UnspecifiedMatching OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch MONDO:0008005 semapv:UnspecifiedMatching OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch Orphanet:3238 semapv:UnspecifiedMatching OMIM:157800 cardiospondylocarpofacial syndrome skos:exactMatch UMLS:C2931461 semapv:UnspecifiedMatching OMIM:157900 moebius syndrome skos:exactMatch MONDO:0008006 semapv:UnspecifiedMatching OMIM:157900 moebius syndrome skos:exactMatch Orphanet:570 semapv:UnspecifiedMatching OMIM:157900 moebius syndrome skos:exactMatch UMLS:C0221060 semapv:UnspecifiedMatching +OMIM:157900 moebius syndrome skos:exactMatch hgnc.symbol:MBS1 semapv:UnspecifiedMatching OMIM:157950 permanent molars, secondary retention of skos:exactMatch MONDO:0008007 semapv:UnspecifiedMatching OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:9565 semapv:UnspecifiedMatching OMIM:157970 PSMD7 skos:exactMatch hgnc.symbol:PSMD7 semapv:UnspecifiedMatching @@ -16752,6 +16863,7 @@ OMIM:159590 CD33 skos:exactMatch hgnc.symbol:1659 semapv:UnspecifiedMatching OMIM:159590 CD33 skos:exactMatch hgnc.symbol:CD33 semapv:UnspecifiedMatching OMIM:159590 CD33 skos:exactMatch ncbigene:945 semapv:UnspecifiedMatching OMIM:159595 myeloproliferative syndrome, transient skos:exactMatch MONDO:0008040 semapv:UnspecifiedMatching +OMIM:159595 myeloproliferative syndrome, transient skos:exactMatch hgnc.symbol:TAM semapv:UnspecifiedMatching OMIM:159600 myoclonic epilepsy, hartung type skos:exactMatch MONDO:0008041 semapv:UnspecifiedMatching OMIM:159800 myoclonus, cerebellar ataxia, and deafness skos:exactMatch MONDO:0008043 semapv:UnspecifiedMatching OMIM:159900 dystonia 11, myoclonic skos:exactMatch MONDO:0008044 semapv:UnspecifiedMatching @@ -16787,6 +16899,7 @@ OMIM:160565 myopathy, tubular aggregate, 1 skos:exactMatch MONDO:0024531 semapv OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans skos:exactMatch MONDO:0008052 semapv:UnspecifiedMatching OMIM:160700 myopia 2, autosomal dominant skos:exactMatch MONDO:0008053 semapv:UnspecifiedMatching OMIM:160700 myopia 2, autosomal dominant skos:exactMatch UMLS:C1834531 semapv:UnspecifiedMatching +OMIM:160700 myopia 2, autosomal dominant skos:exactMatch hgnc.symbol:MYP2 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C1417541 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C2750466 semapv:UnspecifiedMatching OMIM:160710 MYH6 skos:exactMatch UMLS:C2750467 semapv:UnspecifiedMatching @@ -16904,6 +17017,7 @@ OMIM:161480 nasal bones, absence of skos:exactMatch MONDO:0008064 semapv:Unspec OMIM:161500 nasal groove, familial transverse skos:exactMatch MONDO:0008065 semapv:UnspecifiedMatching OMIM:161530 nasal hyperpigmentation, familial transverse skos:exactMatch MONDO:0008066 semapv:UnspecifiedMatching OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch MONDO:0008067 semapv:UnspecifiedMatching +OMIM:161550 nasopharyngeal carcinoma, susceptibility to, 2 skos:exactMatch hgnc.symbol:NPCA2 semapv:UnspecifiedMatching OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:6374 semapv:UnspecifiedMatching OMIM:161555 KLRC1 skos:exactMatch hgnc.symbol:KLRC1 semapv:UnspecifiedMatching OMIM:161555 KLRC1 skos:exactMatch ncbigene:3821 semapv:UnspecifiedMatching @@ -16924,7 +17038,9 @@ OMIM:161650 NEB skos:exactMatch ncbigene:4703 semapv:UnspecifiedMatching OMIM:161700 necrotizing encephalomyelopathy, subacute, of leigh, adult skos:exactMatch MONDO:0008069 semapv:UnspecifiedMatching OMIM:161800 congenital myopathy 2a, typical, autosomal dominant skos:exactMatch MONDO:0008070 semapv:UnspecifiedMatching OMIM:161900 renal failure, progressive, with hypertension skos:exactMatch MONDO:0008071 semapv:UnspecifiedMatching +OMIM:161900 renal failure, progressive, with hypertension skos:exactMatch hgnc.symbol:RFH1 semapv:UnspecifiedMatching OMIM:161950 iga nephropathy, susceptibility to, 1 skos:exactMatch MONDO:0008072 semapv:UnspecifiedMatching +OMIM:161950 iga nephropathy, susceptibility to, 1 skos:exactMatch hgnc.symbol:IGAN1 semapv:UnspecifiedMatching OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 skos:exactMatch MONDO:0008073 semapv:UnspecifiedMatching OMIM:162010 NGFR skos:exactMatch hgnc.symbol:7809 semapv:UnspecifiedMatching OMIM:162010 NGFR skos:exactMatch hgnc.symbol:NGFR semapv:UnspecifiedMatching @@ -17174,6 +17290,7 @@ OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:7637 semapv:UnspecifiedMatching OMIM:164060 NAP1L1 skos:exactMatch hgnc.symbol:NAP1L1 semapv:UnspecifiedMatching OMIM:164060 NAP1L1 skos:exactMatch ncbigene:4673 semapv:UnspecifiedMatching OMIM:164100 nystagmus 2, congenital, autosomal dominant skos:exactMatch MONDO:0008106 semapv:UnspecifiedMatching +OMIM:164100 nystagmus 2, congenital, autosomal dominant skos:exactMatch hgnc.symbol:NYS2 semapv:UnspecifiedMatching OMIM:164150 nystagmus, hereditary vertical skos:exactMatch MONDO:0008107 semapv:UnspecifiedMatching OMIM:164160 LEP skos:exactMatch UMLS:C1416825 semapv:UnspecifiedMatching OMIM:164160 LEP skos:exactMatch UMLS:C3554224 semapv:UnspecifiedMatching @@ -17548,6 +17665,7 @@ OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch MONDO:0024532 semapv:Un OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch Orphanet:2792 semapv:UnspecifiedMatching OMIM:166780 otofaciocervical syndrome 1 skos:exactMatch UMLS:C3714941 semapv:UnspecifiedMatching OMIM:166800 otosclerosis 1 skos:exactMatch MONDO:0008164 semapv:UnspecifiedMatching +OMIM:166800 otosclerosis 1 skos:exactMatch hgnc.symbol:OTSC1 semapv:UnspecifiedMatching OMIM:166900 ovalocytosis, southeast asian skos:exactMatch MONDO:0008165 semapv:UnspecifiedMatching OMIM:166910 ovalocytosis, hereditary hemolytic, with defective erythropoiesis skos:exactMatch MONDO:0008166 semapv:UnspecifiedMatching OMIM:166945 NBR1 skos:exactMatch hgnc.symbol:6746 semapv:UnspecifiedMatching @@ -17642,6 +17760,7 @@ OMIM:167805 REG3A skos:exactMatch hgnc.symbol:REG3A semapv:UnspecifiedMatching OMIM:167805 REG3A skos:exactMatch ncbigene:5068 semapv:UnspecifiedMatching OMIM:167850 pancytopenia and occlusive vascular disease skos:exactMatch MONDO:0008186 semapv:UnspecifiedMatching OMIM:167870 panic disorder 1 skos:exactMatch MONDO:0008187 semapv:UnspecifiedMatching +OMIM:167870 panic disorder 1 skos:exactMatch hgnc.symbol:PAND1 semapv:UnspecifiedMatching OMIM:167900 papillomatosis, confluent and reticulated skos:exactMatch MONDO:0008188 semapv:UnspecifiedMatching OMIM:167950 papillomatosis, florid, of nipple skos:exactMatch MONDO:0008189 semapv:UnspecifiedMatching OMIM:167959 human papillomavirus type 18 integration site 1 skos:exactMatch MONDO:0008190 semapv:UnspecifiedMatching @@ -17709,6 +17828,7 @@ OMIM:168840 PRB3 skos:exactMatch hgnc.symbol:PRB3 semapv:UnspecifiedMatching OMIM:168840 PRB3 skos:exactMatch ncbigene:5544 semapv:UnspecifiedMatching OMIM:168850 skos:exactMatch MONDO:0008204 semapv:UnspecifiedMatching OMIM:168860 patella aplasia-hypoplasia skos:exactMatch MONDO:0008205 semapv:UnspecifiedMatching +OMIM:168860 patella aplasia-hypoplasia skos:exactMatch hgnc.symbol:PTLAH semapv:UnspecifiedMatching OMIM:168885 neuroocular syndrome 2, paroxysmal type skos:exactMatch MONDO:0008206 semapv:UnspecifiedMatching OMIM:168890 PVALB skos:exactMatch hgnc.symbol:9704 semapv:UnspecifiedMatching OMIM:168890 PVALB skos:exactMatch hgnc.symbol:PVALB semapv:UnspecifiedMatching @@ -17849,6 +17969,7 @@ OMIM:171650 ACP2 skos:exactMatch hgnc.symbol:ACP2 semapv:UnspecifiedMatching OMIM:171650 ACP2 skos:exactMatch ncbigene:53 semapv:UnspecifiedMatching OMIM:171660 phosphatase, acid, of tissues skos:exactMatch MONDO:0008238 semapv:UnspecifiedMatching OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch MONDO:0044249 semapv:UnspecifiedMatching +OMIM:171720 alkaline phosphatase, plasma level of, quantitative trait locus 1 skos:exactMatch hgnc.symbol:ALPQTL1 semapv:UnspecifiedMatching OMIM:171740 ALPI skos:exactMatch hgnc.symbol:437 semapv:UnspecifiedMatching OMIM:171740 ALPI skos:exactMatch hgnc.symbol:ALPI semapv:UnspecifiedMatching OMIM:171740 ALPI skos:exactMatch ncbigene:248 semapv:UnspecifiedMatching @@ -18119,6 +18240,7 @@ OMIM:174400 polydactyly, preaxial 1 skos:exactMatch MONDO:0008269 semapv:Unspec OMIM:174500 polydactyly, preaxial 2 skos:exactMatch MONDO:0008270 semapv:UnspecifiedMatching OMIM:174600 polydactyly, preaxial 3 skos:exactMatch MONDO:0008271 semapv:UnspecifiedMatching OMIM:174700 polydactyly, preaxial 4 skos:exactMatch MONDO:0008272 semapv:UnspecifiedMatching +OMIM:174750 polykaryocytosis inducer skos:exactMatch hgnc.symbol:FUSE semapv:UnspecifiedMatching OMIM:174760 POLB skos:exactMatch hgnc.symbol:9174 semapv:UnspecifiedMatching OMIM:174760 POLB skos:exactMatch hgnc.symbol:POLB semapv:UnspecifiedMatching OMIM:174760 POLB skos:exactMatch ncbigene:5423 semapv:UnspecifiedMatching @@ -18164,6 +18286,7 @@ OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:e OMIM:175780 brain small vessel disease 1 with or without ocular anomalies skos:exactMatch UMLS:C4551998 semapv:UnspecifiedMatching OMIM:175800 porokeratosis 1, multiple types skos:exactMatch MONDO:0008290 semapv:UnspecifiedMatching OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated type skos:exactMatch MONDO:0008291 semapv:UnspecifiedMatching +OMIM:175850 porokeratosis 2, palmar, plantar, and disseminated type skos:exactMatch hgnc.symbol:POROK2 semapv:UnspecifiedMatching OMIM:175860 palmoplantar keratoderma, punctate type 2 skos:exactMatch MONDO:0008292 semapv:UnspecifiedMatching OMIM:175900 porokeratosis 3, multiple types skos:exactMatch MONDO:0008293 semapv:UnspecifiedMatching OMIM:176000 porphyria, acute intermittent skos:exactMatch MONDO:0008294 semapv:UnspecifiedMatching @@ -18357,11 +18480,13 @@ OMIM:176761 PRLR skos:exactMatch ncbigene:5618 semapv:UnspecifiedMatching OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:9352 semapv:UnspecifiedMatching OMIM:176763 PRDX1 skos:exactMatch hgnc.symbol:PRDX1 semapv:UnspecifiedMatching OMIM:176763 PRDX1 skos:exactMatch ncbigene:5052 semapv:UnspecifiedMatching +OMIM:176770 proline-negative auxotroph of hamster, complementation of skos:exactMatch hgnc.symbol:PROA semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch MONDO:0008313 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0034888 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C0205990 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C1868686 semapv:UnspecifiedMatching OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch UMLS:C2752090 semapv:UnspecifiedMatching +OMIM:176780 pelvic organ prolapse, susceptibility to skos:exactMatch hgnc.symbol:PVOP1 semapv:UnspecifiedMatching OMIM:176785 PRCP skos:exactMatch hgnc.symbol:9344 semapv:UnspecifiedMatching OMIM:176785 PRCP skos:exactMatch hgnc.symbol:PRCP semapv:UnspecifiedMatching OMIM:176785 PRCP skos:exactMatch ncbigene:5547 semapv:UnspecifiedMatching @@ -18399,7 +18524,7 @@ OMIM:176805 PTGS1 skos:exactMatch ncbigene:5742 semapv:UnspecifiedMatching OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:9595 semapv:UnspecifiedMatching OMIM:176806 PTGER3 skos:exactMatch hgnc.symbol:PTGER3 semapv:UnspecifiedMatching OMIM:176806 PTGER3 skos:exactMatch ncbigene:5733 semapv:UnspecifiedMatching -OMIM:176807 prostate cancer skos:exactMatch MONDO:0023122 semapv:UnspecifiedMatching +OMIM:176807 prostate cancer skos:exactMatch MONDO:0700275 semapv:UnspecifiedMatching OMIM:176807 prostate cancer skos:exactMatch Orphanet:1331 semapv:UnspecifiedMatching OMIM:176807 prostate cancer skos:exactMatch UMLS:C0376358 semapv:UnspecifiedMatching OMIM:176820 KLK3 skos:exactMatch hgnc.symbol:6364 semapv:UnspecifiedMatching @@ -18665,6 +18790,7 @@ OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a s OMIM:178110 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a skos:exactMatch UMLS:C1867440 semapv:UnspecifiedMatching OMIM:178200 pterygium, antecubital skos:exactMatch MONDO:0008339 semapv:UnspecifiedMatching OMIM:178300 ptosis, hereditary congenital 1 skos:exactMatch MONDO:0008340 semapv:UnspecifiedMatching +OMIM:178300 ptosis, hereditary congenital 1 skos:exactMatch hgnc.symbol:PTOS1 semapv:UnspecifiedMatching OMIM:178330 ptosis, strabismus, and ectopic pupils skos:exactMatch MONDO:0008341 semapv:UnspecifiedMatching OMIM:178350 pubic bone dysplasia skos:exactMatch MONDO:0008342 semapv:UnspecifiedMatching OMIM:178370 pulmonary atresia with ventricular septal defect skos:exactMatch MONDO:0008343 semapv:UnspecifiedMatching @@ -18736,6 +18862,7 @@ OMIM:179410 RDX skos:exactMatch hgnc.symbol:9944 semapv:UnspecifiedMatching OMIM:179410 RDX skos:exactMatch hgnc.symbol:RDX semapv:UnspecifiedMatching OMIM:179410 RDX skos:exactMatch ncbigene:5962 semapv:UnspecifiedMatching OMIM:179450 ragweed sensitivity skos:exactMatch MONDO:0008362 semapv:UnspecifiedMatching +OMIM:179450 ragweed sensitivity skos:exactMatch hgnc.symbol:RWS semapv:UnspecifiedMatching OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:9777 semapv:UnspecifiedMatching OMIM:179490 RAB3A skos:exactMatch hgnc.symbol:RAB3A semapv:UnspecifiedMatching OMIM:179490 RAB3A skos:exactMatch ncbigene:5864 semapv:UnspecifiedMatching @@ -18881,6 +19008,7 @@ OMIM:179850 dowling-degos disease 1 skos:exactMatch MONDO:0024534 semapv:Unspec OMIM:179900 retinal aplasia skos:exactMatch MONDO:0008372 semapv:UnspecifiedMatching OMIM:180000 retinal arteries, tortuosity of skos:exactMatch MONDO:0008373 semapv:UnspecifiedMatching OMIM:180020 retinal cone dystrophy 1 skos:exactMatch MONDO:0008374 semapv:UnspecifiedMatching +OMIM:180020 retinal cone dystrophy 1 skos:exactMatch hgnc.symbol:RCD1 semapv:UnspecifiedMatching OMIM:180040 RD3 skos:exactMatch hgnc.symbol:19689 semapv:UnspecifiedMatching OMIM:180040 RD3 skos:exactMatch hgnc.symbol:RD3 semapv:UnspecifiedMatching OMIM:180040 RD3 skos:exactMatch ncbigene:343035 semapv:UnspecifiedMatching @@ -19238,10 +19366,12 @@ OMIM:181405 scapuloperoneal spinal muscular atrophy skos:exactMatch MONDO:000840 OMIM:181440 scheuermann disease skos:exactMatch MONDO:0008410 semapv:UnspecifiedMatching OMIM:181450 ulnar-mammary syndrome skos:exactMatch MONDO:0008411 semapv:UnspecifiedMatching OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch MONDO:0859050 semapv:UnspecifiedMatching +OMIM:181460 schistosoma mansoni infection, susceptibility/resistance to skos:exactMatch hgnc.symbol:SM1 semapv:UnspecifiedMatching OMIM:181500 schizophrenia skos:exactMatch MONDO:0005090 semapv:UnspecifiedMatching OMIM:181500 schizophrenia skos:exactMatch UMLS:C0036341 semapv:UnspecifiedMatching OMIM:181500 schizophrenia skos:exactMatch UMLS:C4538533 semapv:UnspecifiedMatching OMIM:181510 schizophrenia 1 skos:exactMatch MONDO:0008414 semapv:UnspecifiedMatching +OMIM:181510 schizophrenia 1 skos:exactMatch hgnc.symbol:SCZD1 semapv:UnspecifiedMatching OMIM:181515 skos:exactMatch MONDO:0008415 semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch UMLS:C1420065 semapv:UnspecifiedMatching OMIM:181590 STIL skos:exactMatch UMLS:C2675187 semapv:UnspecifiedMatching @@ -19252,6 +19382,7 @@ OMIM:181600 huriez syndrome skos:exactMatch MONDO:0008416 semapv:UnspecifiedMat OMIM:181700 sclerocornea, autosomal dominant skos:exactMatch MONDO:0008417 semapv:UnspecifiedMatching OMIM:181750 scleroderma, familial progressive skos:exactMatch MONDO:0008418 semapv:UnspecifiedMatching OMIM:181800 scoliosis, isolated, susceptibility to, 1 skos:exactMatch MONDO:0008419 semapv:UnspecifiedMatching +OMIM:181800 scoliosis, isolated, susceptibility to, 1 skos:exactMatch hgnc.symbol:IS1 semapv:UnspecifiedMatching OMIM:182000 keratosis, seborrheic skos:exactMatch MONDO:0008420 semapv:UnspecifiedMatching OMIM:182090 SSAV1 skos:exactMatch ncbigene:6739 semapv:UnspecifiedMatching OMIM:182098 SCTR skos:exactMatch hgnc.symbol:10608 semapv:UnspecifiedMatching @@ -19356,6 +19487,7 @@ OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:11164 semapv:UnspecifiedMatching OMIM:182279 SNRPN skos:exactMatch hgnc.symbol:SNRPN semapv:UnspecifiedMatching OMIM:182279 SNRPN skos:exactMatch ncbigene:6638 semapv:UnspecifiedMatching OMIM:182280 small cell cancer of the lung skos:exactMatch MONDO:0008433 semapv:UnspecifiedMatching +OMIM:182280 small cell cancer of the lung skos:exactMatch hgnc.symbol:SCLC1 semapv:UnspecifiedMatching OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:10609 semapv:UnspecifiedMatching OMIM:182281 CCL1 skos:exactMatch hgnc.symbol:CCL1 semapv:UnspecifiedMatching OMIM:182281 CCL1 skos:exactMatch ncbigene:6346 semapv:UnspecifiedMatching @@ -19562,12 +19694,14 @@ OMIM:183700 split-foot deformity with mandibulofacial dysostosis skos:exactMatch OMIM:183800 split-hand with congenital nystagmus, fundal changes, and cataracts skos:exactMatch MONDO:0008466 semapv:UnspecifiedMatching OMIM:183802 split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects skos:exactMatch MONDO:0008467 semapv:UnspecifiedMatching OMIM:183840 spondyloarthropathy, susceptibility to, 2 skos:exactMatch MONDO:0008468 semapv:UnspecifiedMatching +OMIM:183840 spondyloarthropathy, susceptibility to, 2 skos:exactMatch hgnc.symbol:SPDA2 semapv:UnspecifiedMatching OMIM:183849 spondyloepimetaphyseal dysplasia with hypotrichosis skos:exactMatch MONDO:0008469 semapv:UnspecifiedMatching OMIM:183850 spondyloepiphyseal dysplasia with punctate corneal dystrophy skos:exactMatch MONDO:0008470 semapv:UnspecifiedMatching OMIM:183900 spondyloepiphyseal dysplasia congenita skos:exactMatch MONDO:0008471 semapv:UnspecifiedMatching OMIM:184000 spondyloepiphyseal dysplasia, myopia, and sensorineural deafness skos:exactMatch MONDO:0008472 semapv:UnspecifiedMatching OMIM:184095 spondyloepiphyseal dysplasia, maroteaux type skos:exactMatch MONDO:0008473 semapv:UnspecifiedMatching OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch MONDO:0008474 semapv:UnspecifiedMatching +OMIM:184100 spondyloepiphyseal dysplasia tarda, autosomal dominant skos:exactMatch hgnc.symbol:SPDT semapv:UnspecifiedMatching OMIM:184200 spondylolisthesis skos:exactMatch MONDO:0008475 semapv:UnspecifiedMatching OMIM:184250 spondyloepimetaphyseal dysplasia, strudwick type skos:exactMatch MONDO:0008476 semapv:UnspecifiedMatching OMIM:184252 spondylometaphyseal dysplasia, kozlowski type skos:exactMatch MONDO:0008477 semapv:UnspecifiedMatching @@ -19601,6 +19735,7 @@ OMIM:184600 CSTA skos:exactMatch hgnc.symbol:2481 semapv:UnspecifiedMatching OMIM:184600 CSTA skos:exactMatch hgnc.symbol:CSTA semapv:UnspecifiedMatching OMIM:184600 CSTA skos:exactMatch ncbigene:1475 semapv:UnspecifiedMatching OMIM:184700 polycystic ovary syndrome 1 skos:exactMatch MONDO:0008487 semapv:UnspecifiedMatching +OMIM:184700 polycystic ovary syndrome 1 skos:exactMatch hgnc.symbol:PCOS1 semapv:UnspecifiedMatching OMIM:184705 steinfeld syndrome skos:exactMatch MONDO:0008488 semapv:UnspecifiedMatching OMIM:184745 KITLG skos:exactMatch hgnc.symbol:6343 semapv:UnspecifiedMatching OMIM:184745 KITLG skos:exactMatch hgnc.symbol:KITLG semapv:UnspecifiedMatching @@ -19630,6 +19765,7 @@ OMIM:185050 storage pool platelet disease skos:exactMatch MONDO:0008495 semapv: OMIM:185069 storm syndrome skos:exactMatch MONDO:0008496 semapv:UnspecifiedMatching OMIM:185070 stormorken syndrome skos:exactMatch MONDO:0008497 semapv:UnspecifiedMatching OMIM:185100 strabismus, susceptibility to skos:exactMatch MONDO:0008498 semapv:UnspecifiedMatching +OMIM:185100 strabismus, susceptibility to skos:exactMatch hgnc.symbol:STBMS1 semapv:UnspecifiedMatching OMIM:185120 stratton-parker syndrome skos:exactMatch MONDO:0008499 semapv:UnspecifiedMatching OMIM:185200 striae distensae, familial skos:exactMatch MONDO:0008500 semapv:UnspecifiedMatching OMIM:185250 MMP3 skos:exactMatch hgnc.symbol:7173 semapv:UnspecifiedMatching @@ -19647,6 +19783,7 @@ OMIM:185300 sturge-weber syndrome skos:exactMatch UMLS:C0038505 semapv:Unspecif OMIM:185430 CLU skos:exactMatch hgnc.symbol:2095 semapv:UnspecifiedMatching OMIM:185430 CLU skos:exactMatch hgnc.symbol:CLU semapv:UnspecifiedMatching OMIM:185430 CLU skos:exactMatch ncbigene:1191 semapv:UnspecifiedMatching +OMIM:185440 ST2 skos:exactMatch hgnc.symbol:ST2 semapv:UnspecifiedMatching OMIM:185440 ST2 skos:exactMatch ncbigene:6761 semapv:UnspecifiedMatching OMIM:185460 sulfhemoglobinemia, congenital skos:exactMatch MONDO:0008502 semapv:UnspecifiedMatching OMIM:185470 SDHB skos:exactMatch hgnc.symbol:10681 semapv:UnspecifiedMatching @@ -19863,13 +20000,17 @@ OMIM:187040 TAL1 skos:exactMatch ncbigene:6886 semapv:UnspecifiedMatching OMIM:187050 teeth present at birth skos:exactMatch MONDO:0008532 semapv:UnspecifiedMatching OMIM:187100 teeth, supernumerary skos:exactMatch MONDO:0008533 semapv:UnspecifiedMatching OMIM:187260 telangiectasia, hereditary benign skos:exactMatch MONDO:0008534 semapv:UnspecifiedMatching +OMIM:187260 telangiectasia, hereditary benign skos:exactMatch hgnc.symbol:TELAB1 semapv:UnspecifiedMatching OMIM:187270 TERT skos:exactMatch hgnc.symbol:11730 semapv:UnspecifiedMatching OMIM:187270 TERT skos:exactMatch hgnc.symbol:TERT semapv:UnspecifiedMatching OMIM:187270 TERT skos:exactMatch ncbigene:7015 semapv:UnspecifiedMatching OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:1080 semapv:UnspecifiedMatching OMIM:187280 POLR3D skos:exactMatch hgnc.symbol:POLR3D semapv:UnspecifiedMatching OMIM:187280 POLR3D skos:exactMatch ncbigene:661 semapv:UnspecifiedMatching +OMIM:187290 temperature sensitivity complementation, cell cycle specific, h142 skos:exactMatch hgnc.symbol:H142T semapv:UnspecifiedMatching OMIM:187300 telangiectasia, hereditary hemorrhagic, type 1 skos:exactMatch MONDO:0008535 semapv:UnspecifiedMatching +OMIM:187320 temperature sensitivity complementation, cell cycle specific, ts13 skos:exactMatch hgnc.symbol:TS13 semapv:UnspecifiedMatching +OMIM:187330 temperature sensitivity complementation, cell cycle specific, ts546 skos:exactMatch hgnc.symbol:TS546 semapv:UnspecifiedMatching OMIM:187340 temperature-sensitive lethal mutation skos:exactMatch MONDO:0008536 semapv:UnspecifiedMatching OMIM:187350 telecanthus skos:exactMatch MONDO:0008537 semapv:UnspecifiedMatching OMIM:187360 temporal arteritis skos:exactMatch MONDO:0008538 semapv:UnspecifiedMatching @@ -20052,6 +20193,7 @@ OMIM:189500 witkop syndrome skos:exactMatch MONDO:0008582 semapv:UnspecifiedMat OMIM:189600 torticollis skos:exactMatch MONDO:0008583 semapv:UnspecifiedMatching OMIM:189700 torus palatinus and torus mandibularis skos:exactMatch MONDO:0008584 semapv:UnspecifiedMatching OMIM:189800 preeclampsia/eclampsia 1 skos:exactMatch MONDO:0100467 semapv:UnspecifiedMatching +OMIM:189800 preeclampsia/eclampsia 1 skos:exactMatch hgnc.symbol:PEE1 semapv:UnspecifiedMatching OMIM:189880 TRN-GTT2-7 skos:exactMatch UMLS:C5239945 semapv:UnspecifiedMatching OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:54714 semapv:UnspecifiedMatching OMIM:189880 TRN-GTT2-7 skos:exactMatch hgnc.symbol:TRN-GTT2-7 semapv:UnspecifiedMatching @@ -20245,6 +20387,7 @@ OMIM:190090 SRC skos:exactMatch hgnc.symbol:11283 semapv:UnspecifiedMatching OMIM:190090 SRC skos:exactMatch hgnc.symbol:SRC semapv:UnspecifiedMatching OMIM:190090 SRC skos:exactMatch ncbigene:6714 semapv:UnspecifiedMatching OMIM:190100 geniospasm 1 skos:exactMatch MONDO:0008588 semapv:UnspecifiedMatching +OMIM:190100 geniospasm 1 skos:exactMatch hgnc.symbol:GSM1 semapv:UnspecifiedMatching OMIM:190120 THRA skos:exactMatch hgnc.symbol:11796 semapv:UnspecifiedMatching OMIM:190120 THRA skos:exactMatch hgnc.symbol:THRA semapv:UnspecifiedMatching OMIM:190120 THRA skos:exactMatch ncbigene:7067 semapv:UnspecifiedMatching @@ -20472,6 +20615,7 @@ OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:12028 semapv:UnspecifiedMatchin OMIM:191175 HSP90B1 skos:exactMatch hgnc.symbol:HSP90B1 semapv:UnspecifiedMatching OMIM:191175 HSP90B1 skos:exactMatch ncbigene:7184 semapv:UnspecifiedMatching OMIM:191181 suppressor of tumorigenicity 3 skos:exactMatch MONDO:0008614 semapv:UnspecifiedMatching +OMIM:191181 suppressor of tumorigenicity 3 skos:exactMatch hgnc.symbol:ST3 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1275126 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C1363984 semapv:UnspecifiedMatching OMIM:191190 TNFRSF1A skos:exactMatch UMLS:C3553728 semapv:UnspecifiedMatching @@ -20560,6 +20704,7 @@ OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:2995 semapv:UnspecifiedMatching OMIM:191350 DPAGT1 skos:exactMatch hgnc.symbol:DPAGT1 semapv:UnspecifiedMatching OMIM:191350 DPAGT1 skos:exactMatch ncbigene:1798 semapv:UnspecifiedMatching OMIM:191390 inflammatory bowel disease 11 skos:exactMatch MONDO:0008617 semapv:UnspecifiedMatching +OMIM:191390 inflammatory bowel disease 11 skos:exactMatch hgnc.symbol:IBD11 semapv:UnspecifiedMatching OMIM:191400 ulna and fibula, hypoplasia of skos:exactMatch MONDO:0008618 semapv:UnspecifiedMatching OMIM:191420 ulna metaphyseal dysplasia syndrome skos:exactMatch MONDO:0008619 semapv:UnspecifiedMatching OMIM:191440 ulnar hypoplasia skos:exactMatch MONDO:0008620 semapv:UnspecifiedMatching @@ -20647,6 +20792,7 @@ OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:12651 semapv:UnspecifiedMatching OMIM:192150 VARS1 skos:exactMatch hgnc.symbol:VARS1 semapv:UnspecifiedMatching OMIM:192150 VARS1 skos:exactMatch ncbigene:7407 semapv:UnspecifiedMatching OMIM:192200 varicose veins skos:exactMatch MONDO:0008638 semapv:UnspecifiedMatching +OMIM:192200 varicose veins skos:exactMatch hgnc.symbol:VV semapv:UnspecifiedMatching OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:12663 semapv:UnspecifiedMatching OMIM:192225 VCAM1 skos:exactMatch hgnc.symbol:VCAM1 semapv:UnspecifiedMatching OMIM:192225 VCAM1 skos:exactMatch ncbigene:7412 semapv:UnspecifiedMatching @@ -20699,6 +20845,7 @@ OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:12698 semapv:UnspecifiedMatching OMIM:192977 VLDLR skos:exactMatch hgnc.symbol:VLDLR semapv:UnspecifiedMatching OMIM:192977 VLDLR skos:exactMatch ncbigene:7436 semapv:UnspecifiedMatching OMIM:193000 vesicoureteral reflux 1 skos:exactMatch MONDO:0008653 semapv:UnspecifiedMatching +OMIM:193000 vesicoureteral reflux 1 skos:exactMatch hgnc.symbol:VUR semapv:UnspecifiedMatching OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:10935 semapv:UnspecifiedMatching OMIM:193001 SLC18A2 skos:exactMatch hgnc.symbol:SLC18A2 semapv:UnspecifiedMatching OMIM:193001 SLC18A2 skos:exactMatch ncbigene:6571 semapv:UnspecifiedMatching @@ -20708,6 +20855,7 @@ OMIM:193002 SLC18A1 skos:exactMatch ncbigene:6570 semapv:UnspecifiedMatching OMIM:193003 spinocerebellar ataxia 27a skos:exactMatch MONDO:0008654 semapv:UnspecifiedMatching OMIM:193005 vestibulocochlear dysfunction, progressive skos:exactMatch MONDO:0008655 semapv:UnspecifiedMatching OMIM:193007 vertigo, benign recurrent skos:exactMatch MONDO:8000018 semapv:UnspecifiedMatching +OMIM:193007 vertigo, benign recurrent skos:exactMatch hgnc.symbol:BPPV semapv:UnspecifiedMatching OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:12690 semapv:UnspecifiedMatching OMIM:193040 VIL1 skos:exactMatch hgnc.symbol:VIL1 semapv:UnspecifiedMatching OMIM:193040 VIL1 skos:exactMatch ncbigene:7429 semapv:UnspecifiedMatching @@ -20733,6 +20881,7 @@ OMIM:193190 VTN skos:exactMatch hgnc.symbol:12724 semapv:UnspecifiedMatching OMIM:193190 VTN skos:exactMatch hgnc.symbol:VTN semapv:UnspecifiedMatching OMIM:193190 VTN skos:exactMatch ncbigene:7448 semapv:UnspecifiedMatching OMIM:193200 vitiligo-associated multiple autoimmune disease susceptibility 6 skos:exactMatch MONDO:0700077 semapv:UnspecifiedMatching +OMIM:193200 vitiligo-associated multiple autoimmune disease susceptibility 6 skos:exactMatch hgnc.symbol:VAMAS6 semapv:UnspecifiedMatching OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:6150 semapv:UnspecifiedMatching OMIM:193210 ITGAV skos:exactMatch hgnc.symbol:ITGAV semapv:UnspecifiedMatching OMIM:193210 ITGAV skos:exactMatch ncbigene:3685 semapv:UnspecifiedMatching @@ -20780,6 +20929,7 @@ OMIM:194071 wilms tumor 2 skos:exactMatch MONDO:0008680 semapv:UnspecifiedMatch OMIM:194072 wilms tumor, aniridia, genitourinary anomalies, and impaired intellectual development syndrome skos:exactMatch MONDO:0008681 semapv:UnspecifiedMatching OMIM:194080 denys-drash syndrome skos:exactMatch MONDO:0008682 semapv:UnspecifiedMatching OMIM:194090 wilms tumor 3 skos:exactMatch MONDO:0008683 semapv:UnspecifiedMatching +OMIM:194090 wilms tumor 3 skos:exactMatch hgnc.symbol:WT3 semapv:UnspecifiedMatching OMIM:194190 wolf-hirschhorn syndrome skos:exactMatch MONDO:0008684 semapv:UnspecifiedMatching OMIM:194200 wolff-parkinson-white syndrome skos:exactMatch MONDO:0008685 semapv:UnspecifiedMatching OMIM:194200 wolff-parkinson-white syndrome skos:exactMatch UMLS:C0043202 semapv:UnspecifiedMatching @@ -20798,6 +20948,7 @@ OMIM:194363 XRCC4 skos:exactMatch ncbigene:7518 semapv:UnspecifiedMatching OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:12833 semapv:UnspecifiedMatching OMIM:194364 XRCC5 skos:exactMatch hgnc.symbol:XRCC5 semapv:UnspecifiedMatching OMIM:194364 XRCC5 skos:exactMatch ncbigene:7520 semapv:UnspecifiedMatching +OMIM:194370 x-ray sensitivity skos:exactMatch hgnc.symbol:XRS semapv:UnspecifiedMatching OMIM:194380 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema skos:exactMatch MONDO:0008689 semapv:UnspecifiedMatching OMIM:194400 xeroderma pigmentosum, autosomal dominant, mild skos:exactMatch MONDO:0008690 semapv:UnspecifiedMatching OMIM:194450 yeast factor skos:exactMatch UMLS:C1860230 semapv:UnspecifiedMatching @@ -21128,6 +21279,7 @@ OMIM:208400 aspartylglucosaminuria skos:exactMatch Orphanet:93 semapv:Unspecifi OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C0268225 semapv:UnspecifiedMatching OMIM:208400 aspartylglucosaminuria skos:exactMatch UMLS:C2931840 semapv:UnspecifiedMatching OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly skos:exactMatch MONDO:0008831 semapv:UnspecifiedMatching +OMIM:208500 short-rib thoracic dysplasia 1 with or without polydactyly skos:exactMatch hgnc.symbol:ATD semapv:UnspecifiedMatching OMIM:208530 right atrial isomerism skos:exactMatch MONDO:0008832 semapv:UnspecifiedMatching OMIM:208530 right atrial isomerism skos:exactMatch Orphanet:97548 semapv:UnspecifiedMatching OMIM:208530 right atrial isomerism skos:exactMatch UMLS:C0175707 semapv:UnspecifiedMatching @@ -21157,6 +21309,7 @@ OMIM:209850 autism skos:exactMatch MONDO:0005260 semapv:UnspecifiedMatching OMIM:209850 autism skos:exactMatch UMLS:C0004352 semapv:UnspecifiedMatching OMIM:209850 autism skos:exactMatch UMLS:C1510586 semapv:UnspecifiedMatching OMIM:209850 autism skos:exactMatch UMLS:C1968924 semapv:UnspecifiedMatching +OMIM:209850 autism skos:exactMatch hgnc.symbol:AUTS1 semapv:UnspecifiedMatching OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch MONDO:0800026 semapv:UnspecifiedMatching OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:661 semapv:UnspecifiedMatching OMIM:209880 central hypoventilation syndrome, congenital, 1 skos:exactMatch Orphanet:99803 semapv:UnspecifiedMatching @@ -21261,6 +21414,7 @@ OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch Orphanet:158 OMIM:212140 carnitine deficiency, systemic primary skos:exactMatch UMLS:C0342788 semapv:UnspecifiedMatching OMIM:212160 carnitine deficiency, myopathic skos:exactMatch MONDO:0008920 semapv:UnspecifiedMatching OMIM:212200 carnosinemia skos:exactMatch MONDO:0008921 semapv:UnspecifiedMatching +OMIM:212200 carnosinemia skos:exactMatch hgnc.symbol:CNSN semapv:UnspecifiedMatching OMIM:212350 sengers syndrome skos:exactMatch MONDO:0008922 semapv:UnspecifiedMatching OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 skos:exactMatch MONDO:0008923 semapv:UnspecifiedMatching OMIM:212400 cataract and congenital ichthyosis skos:exactMatch MONDO:0008924 semapv:UnspecifiedMatching @@ -21322,6 +21476,7 @@ OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch Orphanet: OMIM:214700 diarrhea 1, secretory chloride, congenital skos:exactMatch UMLS:C0267662 semapv:UnspecifiedMatching OMIM:214800 charge syndrome skos:exactMatch MONDO:0008965 semapv:UnspecifiedMatching OMIM:214900 cholestasis-lymphedema syndrome skos:exactMatch MONDO:0008966 semapv:UnspecifiedMatching +OMIM:214900 cholestasis-lymphedema syndrome skos:exactMatch hgnc.symbol:LCS1 semapv:UnspecifiedMatching OMIM:214950 bile acid synthesis defect, congenital, 4 skos:exactMatch MONDO:0008967 semapv:UnspecifiedMatching OMIM:214980 cholestasis with gallstone, ataxia, and visual disturbance skos:exactMatch MONDO:0008968 semapv:UnspecifiedMatching OMIM:215030 cholesterol pneumonia skos:exactMatch MONDO:0008969 semapv:UnspecifiedMatching @@ -21468,6 +21623,7 @@ OMIM:220111 mitochondrial complex 4 deficiency, nuclear type 5 skos:exactMatch U OMIM:220120 d-glyceric aciduria skos:exactMatch MONDO:0009070 semapv:UnspecifiedMatching OMIM:220150 hypouricemia, renal, 1 skos:exactMatch MONDO:0020728 semapv:UnspecifiedMatching OMIM:220200 dandy-walker syndrome skos:exactMatch MONDO:0009072 semapv:UnspecifiedMatching +OMIM:220200 dandy-walker syndrome skos:exactMatch hgnc.symbol:DWS semapv:UnspecifiedMatching OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch MONDO:0009073 semapv:UnspecifiedMatching OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch Orphanet:7 semapv:UnspecifiedMatching OMIM:220210 ritscher-schinzel syndrome 1 skos:exactMatch UMLS:C0796137 semapv:UnspecifiedMatching @@ -21506,6 +21662,7 @@ OMIM:222100 type 1 diabetes mellitus skos:exactMatch UMLS:C5435660 semapv:Unspe OMIM:222300 wolfram syndrome 1 skos:exactMatch MONDO:0009101 semapv:UnspecifiedMatching OMIM:222350 diaminopentanuria skos:exactMatch MONDO:0009102 semapv:UnspecifiedMatching OMIM:222400 diaphragmatic hernia 2 skos:exactMatch MONDO:0009103 semapv:UnspecifiedMatching +OMIM:222400 diaphragmatic hernia 2 skos:exactMatch hgnc.symbol:DIH2 semapv:UnspecifiedMatching OMIM:222448 donnai-barrow syndrome skos:exactMatch MONDO:0009104 semapv:UnspecifiedMatching OMIM:222470 trichohepatoenteric syndrome 1 skos:exactMatch MONDO:0024541 semapv:UnspecifiedMatching OMIM:222500 diastematomyelia skos:exactMatch MONDO:0009106 semapv:UnspecifiedMatching @@ -21616,6 +21773,7 @@ OMIM:226350 eosinophilic fasciitis skos:exactMatch MONDO:0009175 semapv:Unspeci OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 skos:exactMatch MONDO:0100045 semapv:UnspecifiedMatching OMIM:226440 epidermolysis bullosa, late-onset localized junctional, with impaired intellectual development skos:exactMatch MONDO:0009177 semapv:UnspecifiedMatching OMIM:226500 epidermolysis bullosa dystrophica neurotrophica skos:exactMatch MONDO:0009178 semapv:UnspecifiedMatching +OMIM:226500 epidermolysis bullosa dystrophica neurotrophica skos:exactMatch hgnc.symbol:EBR3 semapv:UnspecifiedMatching OMIM:226600 epidermolysis bullosa dystrophica, autosomal recessive skos:exactMatch MONDO:0009179 semapv:UnspecifiedMatching OMIM:226650 epidermolysis bullosa, junctional 1a, intermediate skos:exactMatch MONDO:0009180 semapv:UnspecifiedMatching OMIM:226670 epidermolysis bullosa simplex 5b, with muscular dystrophy skos:exactMatch MONDO:0009181 semapv:UnspecifiedMatching @@ -21641,6 +21799,8 @@ OMIM:226990 immunodeficiency 32b skos:exactMatch MONDO:0009194 semapv:Unspecifi OMIM:227000 erythema of acral regions skos:exactMatch MONDO:0009195 semapv:UnspecifiedMatching OMIM:227010 ermine phenotype skos:exactMatch MONDO:0009196 semapv:UnspecifiedMatching OMIM:227050 transient erythroblastopenia of childhood skos:exactMatch MONDO:0009197 semapv:UnspecifiedMatching +OMIM:227050 transient erythroblastopenia of childhood skos:exactMatch hgnc.symbol:11719 semapv:UnspecifiedMatching +OMIM:227050 transient erythroblastopenia of childhood skos:exactMatch hgnc.symbol:TEC semapv:UnspecifiedMatching OMIM:227090 erythroderma, lethal congenital skos:exactMatch MONDO:0009198 semapv:UnspecifiedMatching OMIM:227150 ethanolaminosis skos:exactMatch MONDO:0009199 semapv:UnspecifiedMatching OMIM:227210 eyebrows, duplication of, with stretchable skin and syndactyly skos:exactMatch MONDO:0009200 semapv:UnspecifiedMatching @@ -21863,6 +22023,7 @@ OMIM:234800 hemangiomatosis, cutaneous, with associated features skos:exactMatch OMIM:234810 pulmonary venoocclusive disease 2, autosomal recessive skos:exactMatch MONDO:0009329 semapv:UnspecifiedMatching OMIM:234820 hemangiopericytoma, malignant skos:exactMatch MONDO:0009330 semapv:UnspecifiedMatching OMIM:235000 hemihyperplasia, isolated skos:exactMatch MONDO:0009331 semapv:UnspecifiedMatching +OMIM:235000 hemihyperplasia, isolated skos:exactMatch hgnc.symbol:IH semapv:UnspecifiedMatching OMIM:235200 hemochromatosis, type 1 skos:exactMatch MONDO:0021001 semapv:UnspecifiedMatching OMIM:235255 mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly skos:exactMatch MONDO:0009333 semapv:UnspecifiedMatching OMIM:235370 hemolytic anemia with thermal sensitivity of red cells skos:exactMatch MONDO:0009334 semapv:UnspecifiedMatching @@ -21890,6 +22051,7 @@ OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0078982 semapv:Unspecifie OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0079541 semapv:UnspecifiedMatching OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0266667 semapv:UnspecifiedMatching OMIM:236100 holoprosencephaly 1 skos:exactMatch UMLS:C0431363 semapv:UnspecifiedMatching +OMIM:236100 holoprosencephaly 1 skos:exactMatch hgnc.symbol:HPE1 semapv:UnspecifiedMatching OMIM:236110 holzgreve syndrome skos:exactMatch MONDO:0009350 semapv:UnspecifiedMatching OMIM:236130 homocarnosinosis skos:exactMatch MONDO:0009351 semapv:UnspecifiedMatching OMIM:236200 homocystinuria due to cystathionine beta-synthase deficiency skos:exactMatch MONDO:0009352 semapv:UnspecifiedMatching @@ -22084,7 +22246,6 @@ OMIM:244450 kaufman oculocerebrofacial syndrome skos:exactMatch MONDO:0009485 s OMIM:244460 kenny-caffey syndrome, type 1 skos:exactMatch MONDO:0009486 semapv:UnspecifiedMatching OMIM:244510 keratoconus and congenital hip dysplasia skos:exactMatch MONDO:0009487 semapv:UnspecifiedMatching OMIM:244600 keratoconus posticus circumscriptus skos:exactMatch MONDO:0009488 semapv:UnspecifiedMatching -OMIM:244850 skos:exactMatch MONDO:0009489 semapv:UnspecifiedMatching OMIM:245000 papillon-lefevre syndrome skos:exactMatch MONDO:0009490 semapv:UnspecifiedMatching OMIM:245010 haim-munk syndrome skos:exactMatch MONDO:0009491 semapv:UnspecifiedMatching OMIM:245050 succinyl-coa:3-oxoacid-coa transferase deficiency skos:exactMatch MONDO:0009492 semapv:UnspecifiedMatching @@ -22150,6 +22311,7 @@ OMIM:247450 lymphoblastic transformation, intrinsic defect 1n skos:exactMatch MO OMIM:247610 lymphoid interstitial pneumonia skos:exactMatch MONDO:0009537 semapv:UnspecifiedMatching OMIM:247630 lymphoid system deterioration, progressive skos:exactMatch MONDO:0009538 semapv:UnspecifiedMatching OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch MONDO:0009539 semapv:UnspecifiedMatching +OMIM:247640 lymphoblastic leukemia, acute, with lymphomatous features skos:exactMatch hgnc.symbol:LALL semapv:UnspecifiedMatching OMIM:247650 lymphokine deficiency skos:exactMatch MONDO:0009540 semapv:UnspecifiedMatching OMIM:247800 lymphopenic hypergammaglobulinemia, antibody deficiency, autoimmune hemolytic anemia, and glomerulonephritis skos:exactMatch MONDO:0009541 semapv:UnspecifiedMatching OMIM:247950 lysine malabsorption syndrome skos:exactMatch MONDO:0009542 semapv:UnspecifiedMatching @@ -22171,6 +22333,7 @@ OMIM:248250 hypomagnesemia 3, renal skos:exactMatch MONDO:0009550 semapv:Unspec OMIM:248260 magnesium, elevated red cell skos:exactMatch MONDO:0009551 semapv:UnspecifiedMatching OMIM:248300 mal lange meleda skos:exactMatch MONDO:0009552 semapv:UnspecifiedMatching OMIM:248310 plasmodium falciparum blood infection level skos:exactMatch MONDO:0009553 semapv:UnspecifiedMatching +OMIM:248310 plasmodium falciparum blood infection level skos:exactMatch hgnc.symbol:PFBI semapv:UnspecifiedMatching OMIM:248340 3mc syndrome 3 skos:exactMatch MONDO:0009554 semapv:UnspecifiedMatching OMIM:248350 malocclusion and short stature skos:exactMatch MONDO:0009555 semapv:UnspecifiedMatching OMIM:248360 malonyl-coa decarboxylase deficiency skos:exactMatch MONDO:0009556 semapv:UnspecifiedMatching @@ -22298,6 +22461,7 @@ OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C0432242 semapv:Unspeci OMIM:251450 desbuquois dysplasia 1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching OMIM:251505 microphthalmia/coloboma 4 skos:exactMatch MONDO:0009630 semapv:UnspecifiedMatching OMIM:251600 microphthalmia, isolated 1 skos:exactMatch MONDO:0009631 semapv:UnspecifiedMatching +OMIM:251600 microphthalmia, isolated 1 skos:exactMatch hgnc.symbol:MCOP1 semapv:UnspecifiedMatching OMIM:251700 microphthalmia with hyperopia, retinal degeneration, macrophakia, and dental anomalies skos:exactMatch MONDO:0009632 semapv:UnspecifiedMatching OMIM:251750 microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma skos:exactMatch MONDO:0009633 semapv:UnspecifiedMatching OMIM:251800 microtia with meatal atresia and conductive deafness skos:exactMatch MONDO:0009634 semapv:UnspecifiedMatching @@ -22327,6 +22491,7 @@ OMIM:252270 monosomy 7 myelodysplasia and leukemia syndrome 1 skos:exactMatch UM OMIM:252300 morquio syndrome c skos:exactMatch MONDO:0009647 semapv:UnspecifiedMatching OMIM:252320 motor neuropathy, peripheral, with dysautonomia skos:exactMatch MONDO:0009648 semapv:UnspecifiedMatching OMIM:252350 moyamoya disease 1 skos:exactMatch MONDO:0009649 semapv:UnspecifiedMatching +OMIM:252350 moyamoya disease 1 skos:exactMatch hgnc.symbol:MYMY1 semapv:UnspecifiedMatching OMIM:252500 mucolipidosis 2 alpha/beta skos:exactMatch MONDO:0009650 semapv:UnspecifiedMatching OMIM:252600 mucolipidosis 3 alpha/beta skos:exactMatch MONDO:0018931 semapv:UnspecifiedMatching OMIM:252605 mucolipidosis 3 gamma skos:exactMatch MONDO:0009652 semapv:UnspecifiedMatching @@ -22448,6 +22613,7 @@ OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch Orphanet:98905 semapv:UnspecifiedMatching OMIM:255320 congenital myopathy 1b, autosomal recessive skos:exactMatch UMLS:C1850674 semapv:UnspecifiedMatching OMIM:255500 myopia 18, autosomal recessive skos:exactMatch MONDO:0009713 semapv:UnspecifiedMatching +OMIM:255500 myopia 18, autosomal recessive skos:exactMatch hgnc.symbol:MYP18 semapv:UnspecifiedMatching OMIM:255600 myosclerosis, autosomal recessive skos:exactMatch MONDO:0009714 semapv:UnspecifiedMatching OMIM:255700 myotonia congenita, autosomal recessive skos:exactMatch MONDO:0009715 semapv:UnspecifiedMatching OMIM:255710 myotonia with skeletal abnormalities and impaired intellectual development skos:exactMatch MONDO:0009716 semapv:UnspecifiedMatching @@ -22514,6 +22680,7 @@ OMIM:257350 nuchal bleb, familial skos:exactMatch MONDO:0009761 semapv:Unspecif OMIM:257400 nystagmus 8, congenital, autosomal recessive skos:exactMatch MONDO:0009762 semapv:UnspecifiedMatching OMIM:257500 obesity-hypoventilation syndrome skos:exactMatch MONDO:0009763 semapv:UnspecifiedMatching OMIM:257550 ocular motor apraxia skos:exactMatch MONDO:0009764 semapv:UnspecifiedMatching +OMIM:257550 ocular motor apraxia skos:exactMatch hgnc.symbol:COMA semapv:UnspecifiedMatching OMIM:257600 ocular myopathy with curare sensitivity skos:exactMatch MONDO:0009765 semapv:UnspecifiedMatching OMIM:257790 oculocerebral hypopigmentation syndrome of preus skos:exactMatch MONDO:0009766 semapv:UnspecifiedMatching OMIM:257800 oculocerebral syndrome with hypopigmentation skos:exactMatch MONDO:0009767 semapv:UnspecifiedMatching @@ -22550,6 +22717,7 @@ OMIM:258480 opsismodysplasia skos:exactMatch MONDO:0009785 semapv:UnspecifiedMa OMIM:258480 opsismodysplasia skos:exactMatch Orphanet:2746 semapv:UnspecifiedMatching OMIM:258480 opsismodysplasia skos:exactMatch UMLS:C0432219 semapv:UnspecifiedMatching OMIM:258500 optic atrophy 6 skos:exactMatch MONDO:0009786 semapv:UnspecifiedMatching +OMIM:258500 optic atrophy 6 skos:exactMatch hgnc.symbol:OPA6 semapv:UnspecifiedMatching OMIM:258501 3-methylglutaconic aciduria, type 3 skos:exactMatch MONDO:0009787 semapv:UnspecifiedMatching OMIM:258501 3-methylglutaconic aciduria, type 3 skos:exactMatch Orphanet:67047 semapv:UnspecifiedMatching OMIM:258501 3-methylglutaconic aciduria, type 3 skos:exactMatch UMLS:C0574084 semapv:UnspecifiedMatching @@ -22663,6 +22831,7 @@ OMIM:261680 phosphoenolpyruvate carboxykinase deficiency, cytosolic skos:exactMa OMIM:261740 glycogen storage disease of heart, lethal congenital skos:exactMatch MONDO:0009867 semapv:UnspecifiedMatching OMIM:261750 glycogen storage disease ixb skos:exactMatch MONDO:0009868 semapv:UnspecifiedMatching OMIM:261800 pierre robin syndrome skos:exactMatch MONDO:0009869 semapv:UnspecifiedMatching +OMIM:261800 pierre robin syndrome skos:exactMatch hgnc.symbol:PRBNS semapv:UnspecifiedMatching OMIM:261900 pili torti, early-onset skos:exactMatch MONDO:0009870 semapv:UnspecifiedMatching OMIM:261990 abnormal hair, joint laxity, and developmental delay skos:exactMatch MONDO:0009871 semapv:UnspecifiedMatching OMIM:262000 bjornstad syndrome skos:exactMatch MONDO:0009872 semapv:UnspecifiedMatching @@ -22685,6 +22854,7 @@ OMIM:262875 platelet prostacyclin receptor defect skos:exactMatch MONDO:0009884 OMIM:262890 scott syndrome skos:exactMatch MONDO:0009885 semapv:UnspecifiedMatching OMIM:262900 pleoconial myopathy with salt craving skos:exactMatch MONDO:0009886 semapv:UnspecifiedMatching OMIM:263000 interstitial pneumonitis, desquamative, familial skos:exactMatch MONDO:0009887 semapv:UnspecifiedMatching +OMIM:263000 interstitial pneumonitis, desquamative, familial skos:exactMatch hgnc.symbol:DIP semapv:UnspecifiedMatching OMIM:263100 polycystic kidney, cataract, and congenital blindness skos:exactMatch MONDO:0009888 semapv:UnspecifiedMatching OMIM:263200 polycystic kidney disease 4 with or without polycystic liver disease skos:exactMatch MONDO:0033004 semapv:UnspecifiedMatching OMIM:263210 gillessen-kaesbach-nishimura syndrome skos:exactMatch MONDO:0009890 semapv:UnspecifiedMatching @@ -22693,6 +22863,7 @@ OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch MONDO:0009892 semapv:Un OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch Orphanet:238557 semapv:UnspecifiedMatching OMIM:263400 erythrocytosis, familial, 2 skos:exactMatch UMLS:C1837915 semapv:UnspecifiedMatching OMIM:263450 polydactyly, postaxial, type a5 skos:exactMatch MONDO:0009893 semapv:UnspecifiedMatching +OMIM:263450 polydactyly, postaxial, type a5 skos:exactMatch hgnc.symbol:PAPA5 semapv:UnspecifiedMatching OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch MONDO:0009894 semapv:UnspecifiedMatching OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch Orphanet:93269 semapv:UnspecifiedMatching OMIM:263520 short-rib thoracic dysplasia 6 with or without polydactyly skos:exactMatch UMLS:C0024507 semapv:UnspecifiedMatching @@ -22809,6 +22980,7 @@ OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch MOND OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch Orphanet:540 semapv:UnspecifiedMatching OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch UMLS:C0272199 semapv:UnspecifiedMatching OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch UMLS:C4551514 semapv:UnspecifiedMatching +OMIM:267700 hemophagocytic lymphohistiocytosis, familial, 1 skos:exactMatch hgnc.symbol:HPLH1 semapv:UnspecifiedMatching OMIM:267730 reticulum cell sarcoma skos:exactMatch MONDO:0009975 semapv:UnspecifiedMatching OMIM:267740 retinal degeneration and epilepsy skos:exactMatch MONDO:0009976 semapv:UnspecifiedMatching OMIM:267750 knobloch syndrome 1 skos:exactMatch MONDO:0800167 semapv:UnspecifiedMatching @@ -22920,6 +23092,7 @@ OMIM:271200 spinal muscular atrophy, ryukyuan type skos:exactMatch MONDO:0010057 OMIM:271220 spinal muscular atrophy, scapuloperoneal skos:exactMatch MONDO:0010058 semapv:UnspecifiedMatching OMIM:271245 mitochondrial DNA depletion syndrome 7 (hepatocerebral type) skos:exactMatch MONDO:0010060 semapv:UnspecifiedMatching OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 skos:exactMatch MONDO:0010061 semapv:UnspecifiedMatching +OMIM:271250 spinocerebellar ataxia, autosomal recessive 3 skos:exactMatch hgnc.symbol:SCAR3 semapv:UnspecifiedMatching OMIM:271270 spinocerebellar ataxia with dysmorphism skos:exactMatch MONDO:0010062 semapv:UnspecifiedMatching OMIM:271310 spinocerebellar degeneration and corneal dystrophy skos:exactMatch MONDO:0010063 semapv:UnspecifiedMatching OMIM:271320 spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia skos:exactMatch MONDO:0010064 semapv:UnspecifiedMatching @@ -22961,6 +23134,7 @@ OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:833 s OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch Orphanet:99731 semapv:UnspecifiedMatching OMIM:272300 sulfite oxidase deficiency, isolated skos:exactMatch UMLS:C2931746 semapv:UnspecifiedMatching OMIM:272350 summitt syndrome skos:exactMatch MONDO:0010090 semapv:UnspecifiedMatching +OMIM:272370 susceptibility to lysis by alloreactive natural killer cells skos:exactMatch hgnc.symbol:NKS1 semapv:UnspecifiedMatching OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch MONDO:0010091 semapv:UnspecifiedMatching OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch Orphanet:157820 semapv:UnspecifiedMatching OMIM:272430 crisponi/cold-induced sweating syndrome 1 skos:exactMatch UMLS:C1832409 semapv:UnspecifiedMatching @@ -23019,6 +23193,7 @@ OMIM:274200 thumb, distal hyperextensibility of skos:exactMatch MONDO:0010124 s OMIM:274205 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness skos:exactMatch MONDO:0010125 semapv:UnspecifiedMatching OMIM:274210 thymic aplasia with fetal death skos:exactMatch MONDO:0010126 semapv:UnspecifiedMatching OMIM:274230 thymoma, familial skos:exactMatch MONDO:0010127 semapv:UnspecifiedMatching +OMIM:274230 thymoma, familial skos:exactMatch hgnc.symbol:THM semapv:UnspecifiedMatching OMIM:274240 thyrocerebroretinal syndrome skos:exactMatch MONDO:0010128 semapv:UnspecifiedMatching OMIM:274265 thymic-renal-anal-lung dysplasia skos:exactMatch MONDO:0010129 semapv:UnspecifiedMatching OMIM:274270 dihydropyrimidine dehydrogenase deficiency skos:exactMatch MONDO:0010130 semapv:UnspecifiedMatching @@ -23030,12 +23205,14 @@ OMIM:274700 thyroid dyshormonogenesis 3 skos:exactMatch MONDO:0010135 semapv:Un OMIM:274800 thyroid dyshormonogenesis 4 skos:exactMatch MONDO:0010136 semapv:UnspecifiedMatching OMIM:274900 thyroid dyshormonogenesis 5 skos:exactMatch MONDO:0010137 semapv:UnspecifiedMatching OMIM:275000 graves disease skos:exactMatch MONDO:0100489 semapv:UnspecifiedMatching +OMIM:275000 graves disease skos:exactMatch hgnc.symbol:GRD1 semapv:UnspecifiedMatching OMIM:275100 hypothyroidism, congenital, nongoitrous, 4 skos:exactMatch MONDO:0010139 semapv:UnspecifiedMatching OMIM:275120 thyrotropin-releasing hormone deficiency skos:exactMatch MONDO:0010140 semapv:UnspecifiedMatching OMIM:275190 tiglic acidemia skos:exactMatch MONDO:0010141 semapv:UnspecifiedMatching OMIM:275200 hypothyroidism, congenital, nongoitrous, 1 skos:exactMatch MONDO:0010142 semapv:UnspecifiedMatching OMIM:275210 restrictive dermopathy 1 skos:exactMatch MONDO:0800042 semapv:UnspecifiedMatching OMIM:275220 tibial hemimelia skos:exactMatch MONDO:0010144 semapv:UnspecifiedMatching +OMIM:275220 tibial hemimelia skos:exactMatch hgnc.symbol:THMA semapv:UnspecifiedMatching OMIM:275230 tibia, absence of, with congenital deafness skos:exactMatch MONDO:0010145 semapv:UnspecifiedMatching OMIM:275240 tinea imbricata, susceptibility to skos:exactMatch MONDO:0010146 semapv:UnspecifiedMatching OMIM:275250 tongue, pigmented fungiform papillae of skos:exactMatch MONDO:0010147 semapv:UnspecifiedMatching @@ -23265,6 +23442,7 @@ OMIM:300028 ZRSR2 skos:exactMatch hgnc.symbol:ZRSR2 semapv:UnspecifiedMatching OMIM:300028 ZRSR2 skos:exactMatch ncbigene:8233 semapv:UnspecifiedMatching OMIM:300029 retinitis pigmentosa 3 skos:exactMatch MONDO:0010227 semapv:UnspecifiedMatching OMIM:300030 deafness, X-linked 3 skos:exactMatch MONDO:0010228 semapv:UnspecifiedMatching +OMIM:300030 deafness, X-linked 3 skos:exactMatch hgnc.symbol:DFNX3 semapv:UnspecifiedMatching OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:17125 semapv:UnspecifiedMatching OMIM:300031 FAM11A skos:exactMatch hgnc.symbol:TMEM185A semapv:UnspecifiedMatching OMIM:300031 FAM11A skos:exactMatch ncbigene:84548 semapv:UnspecifiedMatching @@ -23313,7 +23491,9 @@ OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:11835 semapv:UnspecifiedMatching OMIM:300044 TKTL1 skos:exactMatch hgnc.symbol:TKTL1 semapv:UnspecifiedMatching OMIM:300044 TKTL1 skos:exactMatch ncbigene:8277 semapv:UnspecifiedMatching OMIM:300046 intellectual developmental disorder, X-linked 23 skos:exactMatch MONDO:0010230 semapv:UnspecifiedMatching +OMIM:300046 intellectual developmental disorder, X-linked 23 skos:exactMatch hgnc.symbol:MRX23 semapv:UnspecifiedMatching OMIM:300047 intellectual developmental disorder, X-linked 20 skos:exactMatch MONDO:0010231 semapv:UnspecifiedMatching +OMIM:300047 intellectual developmental disorder, X-linked 20 skos:exactMatch hgnc.symbol:MRX20 semapv:UnspecifiedMatching OMIM:300048 intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked skos:exactMatch MONDO:0010232 semapv:UnspecifiedMatching OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch MONDO:0010233 semapv:UnspecifiedMatching OMIM:300049 periventricular nodular heterotopia 1 skos:exactMatch Orphanet:2149 semapv:UnspecifiedMatching @@ -23333,6 +23513,7 @@ OMIM:300052 DRP2 skos:exactMatch ncbigene:1821 semapv:UnspecifiedMatching OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:11486 semapv:UnspecifiedMatching OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch hgnc.symbol:VAMP7 semapv:UnspecifiedMatching OMIM:300053 vesicle-associated membrane protein 7: vamp7 skos:exactMatch ncbigene:6845 semapv:UnspecifiedMatching +OMIM:300054 body length, mouse, human homolog skos:exactMatch hgnc.symbol:BDLN1 semapv:UnspecifiedMatching OMIM:300055 intellectual developmental disorder, x-linked, syndromic 13 skos:exactMatch MONDO:0010235 semapv:UnspecifiedMatching OMIM:300056 HCCS skos:exactMatch hgnc.symbol:4837 semapv:UnspecifiedMatching OMIM:300056 HCCS skos:exactMatch hgnc.symbol:HCCS semapv:UnspecifiedMatching @@ -23347,6 +23528,7 @@ OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:13054 semapv:UnspecifiedMatching OMIM:300061 ZMYM3 skos:exactMatch hgnc.symbol:ZMYM3 semapv:UnspecifiedMatching OMIM:300061 ZMYM3 skos:exactMatch ncbigene:9203 semapv:UnspecifiedMatching OMIM:300062 intellectual developmental disorder, X-linked 14 skos:exactMatch MONDO:0010236 semapv:UnspecifiedMatching +OMIM:300062 intellectual developmental disorder, X-linked 14 skos:exactMatch hgnc.symbol:MRX14 semapv:UnspecifiedMatching OMIM:300064 hyde-forster syndrome skos:exactMatch MONDO:0010237 semapv:UnspecifiedMatching OMIM:300065 CENPI skos:exactMatch hgnc.symbol:3968 semapv:UnspecifiedMatching OMIM:300065 CENPI skos:exactMatch hgnc.symbol:CENPI semapv:UnspecifiedMatching @@ -23373,6 +23555,7 @@ OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:10432 semapv:UnspecifiedMatchin OMIM:300075 RPS6KA3 skos:exactMatch hgnc.symbol:RPS6KA3 semapv:UnspecifiedMatching OMIM:300075 RPS6KA3 skos:exactMatch ncbigene:6197 semapv:UnspecifiedMatching OMIM:300076 immunoneurologic disorder, X-linked skos:exactMatch MONDO:0010243 semapv:UnspecifiedMatching +OMIM:300076 immunoneurologic disorder, X-linked skos:exactMatch hgnc.symbol:INDX semapv:UnspecifiedMatching OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:7683 semapv:UnspecifiedMatching OMIM:300078 NDUFA1 skos:exactMatch hgnc.symbol:NDUFA1 semapv:UnspecifiedMatching OMIM:300078 NDUFA1 skos:exactMatch ncbigene:4694 semapv:UnspecifiedMatching @@ -23388,6 +23571,7 @@ OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:2957 semapv:UnspecifiedMatchin OMIM:300081 DNASE1L1 skos:exactMatch hgnc.symbol:DNASE1L1 semapv:UnspecifiedMatching OMIM:300081 DNASE1L1 skos:exactMatch ncbigene:1774 semapv:UnspecifiedMatching OMIM:300082 cognitive function 1, social skos:exactMatch MONDO:0010244 semapv:UnspecifiedMatching +OMIM:300082 cognitive function 1, social skos:exactMatch hgnc.symbol:CGF1 semapv:UnspecifiedMatching OMIM:300083 PRKX skos:exactMatch hgnc.symbol:9441 semapv:UnspecifiedMatching OMIM:300083 PRKX skos:exactMatch hgnc.symbol:PRKX semapv:UnspecifiedMatching OMIM:300083 PRKX skos:exactMatch ncbigene:5613 semapv:UnspecifiedMatching @@ -23395,6 +23579,7 @@ OMIM:300084 NONO skos:exactMatch hgnc.symbol:7871 semapv:UnspecifiedMatching OMIM:300084 NONO skos:exactMatch hgnc.symbol:NONO semapv:UnspecifiedMatching OMIM:300084 NONO skos:exactMatch ncbigene:4841 semapv:UnspecifiedMatching OMIM:300085 cone-rod dystrophy, x-linked, 2 skos:exactMatch MONDO:0010245 semapv:UnspecifiedMatching +OMIM:300085 cone-rod dystrophy, x-linked, 2 skos:exactMatch hgnc.symbol:COD2 semapv:UnspecifiedMatching OMIM:300086 LPAR4 skos:exactMatch UMLS:C1415216 semapv:UnspecifiedMatching OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:4478 semapv:UnspecifiedMatching OMIM:300086 LPAR4 skos:exactMatch hgnc.symbol:LPAR4 semapv:UnspecifiedMatching @@ -23496,6 +23681,7 @@ OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:30189 semapv:UnspecifiedMatching OMIM:300124 GTPBP6 skos:exactMatch hgnc.symbol:GTPBP6 semapv:UnspecifiedMatching OMIM:300124 GTPBP6 skos:exactMatch ncbigene:8225 semapv:UnspecifiedMatching OMIM:300125 migraine with or without aura, susceptibility to, 2 skos:exactMatch MONDO:0010253 semapv:UnspecifiedMatching +OMIM:300125 migraine with or without aura, susceptibility to, 2 skos:exactMatch hgnc.symbol:MGR2 semapv:UnspecifiedMatching OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:2890 semapv:UnspecifiedMatching OMIM:300126 DKC1 skos:exactMatch hgnc.symbol:DKC1 semapv:UnspecifiedMatching OMIM:300126 DKC1 skos:exactMatch ncbigene:1736 semapv:UnspecifiedMatching @@ -23526,6 +23712,7 @@ OMIM:300135 ABCB7 skos:exactMatch hgnc.symbol:ABCB7 semapv:UnspecifiedMatching OMIM:300135 ABCB7 skos:exactMatch ncbigene:22 semapv:UnspecifiedMatching OMIM:300136 type 1 diabetes mellitus, x-linked, susceptibility to skos:exactMatch MONDO:0010255 semapv:UnspecifiedMatching OMIM:300136 type 1 diabetes mellitus, x-linked, susceptibility to skos:exactMatch UMLS:C1848042 semapv:UnspecifiedMatching +OMIM:300136 type 1 diabetes mellitus, x-linked, susceptibility to skos:exactMatch hgnc.symbol:IDDMX semapv:UnspecifiedMatching OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:5948 semapv:UnspecifiedMatching OMIM:300137 IGSF1 skos:exactMatch hgnc.symbol:IGSF1 semapv:UnspecifiedMatching OMIM:300137 IGSF1 skos:exactMatch ncbigene:3547 semapv:UnspecifiedMatching @@ -23549,6 +23736,7 @@ OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:1483 semapv:UnspecifiedMatching OMIM:300146 CAPN6 skos:exactMatch hgnc.symbol:CAPN6 semapv:UnspecifiedMatching OMIM:300146 CAPN6 skos:exactMatch ncbigene:827 semapv:UnspecifiedMatching OMIM:300147 prostate cancer, hereditary, X-linked 1 skos:exactMatch MONDO:0010257 semapv:UnspecifiedMatching +OMIM:300147 prostate cancer, hereditary, X-linked 1 skos:exactMatch hgnc.symbol:HPCX semapv:UnspecifiedMatching OMIM:300148 mehmo syndrome skos:exactMatch MONDO:0010258 semapv:UnspecifiedMatching OMIM:300148 mehmo syndrome skos:exactMatch Orphanet:85282 semapv:UnspecifiedMatching OMIM:300148 mehmo syndrome skos:exactMatch UMLS:C1846278 semapv:UnspecifiedMatching @@ -23571,6 +23759,7 @@ OMIM:300154 ESX1L skos:exactMatch hgnc.symbol:14865 semapv:UnspecifiedMatching OMIM:300154 ESX1L skos:exactMatch hgnc.symbol:ESX1 semapv:UnspecifiedMatching OMIM:300154 ESX1L skos:exactMatch ncbigene:80712 semapv:UnspecifiedMatching OMIM:300155 retinitis pigmentosa 24 skos:exactMatch MONDO:0010259 semapv:UnspecifiedMatching +OMIM:300155 retinitis pigmentosa 24 skos:exactMatch hgnc.symbol:RP24 semapv:UnspecifiedMatching OMIM:300156 CTAG1B skos:exactMatch hgnc.symbol:2491 semapv:UnspecifiedMatching OMIM:300156 CTAG1B skos:exactMatch hgnc.symbol:CTAG1B semapv:UnspecifiedMatching OMIM:300156 CTAG1B skos:exactMatch ncbigene:1485 semapv:UnspecifiedMatching @@ -23578,6 +23767,7 @@ OMIM:300157 ACSL4 skos:exactMatch hgnc.symbol:3571 semapv:UnspecifiedMatching OMIM:300157 ACSL4 skos:exactMatch hgnc.symbol:ACSL4 semapv:UnspecifiedMatching OMIM:300157 ACSL4 skos:exactMatch ncbigene:2182 semapv:UnspecifiedMatching OMIM:300158 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch MONDO:0010260 semapv:UnspecifiedMatching +OMIM:300158 arthrogryposis, congenital, lower limb, X-linked skos:exactMatch hgnc.symbol:AMCX5 semapv:UnspecifiedMatching OMIM:300159 TMSB4X skos:exactMatch hgnc.symbol:11881 semapv:UnspecifiedMatching OMIM:300159 TMSB4X skos:exactMatch hgnc.symbol:TMSB4X semapv:UnspecifiedMatching OMIM:300159 TMSB4X skos:exactMatch ncbigene:7114 semapv:UnspecifiedMatching @@ -23662,6 +23852,7 @@ OMIM:300178 ZBED1 skos:exactMatch hgnc.symbol:447 semapv:UnspecifiedMatching OMIM:300178 ZBED1 skos:exactMatch hgnc.symbol:ZBED1 semapv:UnspecifiedMatching OMIM:300178 ZBED1 skos:exactMatch ncbigene:9189 semapv:UnspecifiedMatching OMIM:300179 x inactivation, familial skewed, 2 skos:exactMatch MONDO:0026426 semapv:UnspecifiedMatching +OMIM:300179 x inactivation, familial skewed, 2 skos:exactMatch hgnc.symbol:SXI2 semapv:UnspecifiedMatching OMIM:300180 ARSL skos:exactMatch hgnc.symbol:719 semapv:UnspecifiedMatching OMIM:300180 ARSL skos:exactMatch hgnc.symbol:ARSL semapv:UnspecifiedMatching OMIM:300180 ARSL skos:exactMatch ncbigene:415 semapv:UnspecifiedMatching @@ -23756,6 +23947,7 @@ OMIM:300209 simpson-golabi-behmel syndrome, type 2 skos:exactMatch Orphanet:7902 OMIM:300209 simpson-golabi-behmel syndrome, type 2 skos:exactMatch UMLS:C1846175 semapv:UnspecifiedMatching OMIM:300210 intellectual developmental disorder, X-linked 58 skos:exactMatch MONDO:0010266 semapv:UnspecifiedMatching OMIM:300211 episodic muscle weakness, X-linked skos:exactMatch MONDO:0010267 semapv:UnspecifiedMatching +OMIM:300211 episodic muscle weakness, X-linked skos:exactMatch hgnc.symbol:EMWX semapv:UnspecifiedMatching OMIM:300212 RGN skos:exactMatch hgnc.symbol:9989 semapv:UnspecifiedMatching OMIM:300212 RGN skos:exactMatch hgnc.symbol:RGN semapv:UnspecifiedMatching OMIM:300212 RGN skos:exactMatch ncbigene:9104 semapv:UnspecifiedMatching @@ -23769,12 +23961,15 @@ OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch MONDO:0010268 semapv:Uns OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch Orphanet:452 semapv:UnspecifiedMatching OMIM:300215 lissencephaly, x-linked, 2 skos:exactMatch UMLS:C1846171 semapv:UnspecifiedMatching OMIM:300216 coats disease skos:exactMatch MONDO:0010269 semapv:UnspecifiedMatching +OMIM:300216 coats disease skos:exactMatch hgnc.symbol:CTD semapv:UnspecifiedMatching OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:9835 semapv:UnspecifiedMatching OMIM:300217 RAI2 skos:exactMatch hgnc.symbol:RAI2 semapv:UnspecifiedMatching OMIM:300217 RAI2 skos:exactMatch ncbigene:10742 semapv:UnspecifiedMatching OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 skos:exactMatch MONDO:0010270 semapv:UnspecifiedMatching +OMIM:300218 intellectual developmental disorder, x-linked, syndromic 7 skos:exactMatch hgnc.symbol:MRXS7 semapv:UnspecifiedMatching OMIM:300219 myotubular myopathy with abnormal genital development skos:exactMatch MONDO:0010271 semapv:UnspecifiedMatching OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal skos:exactMatch MONDO:0010273 semapv:UnspecifiedMatching +OMIM:300221 lymphoma, hodgkin, X-linked pseudoautosomal skos:exactMatch hgnc.symbol:HDPA semapv:UnspecifiedMatching OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:6173 semapv:UnspecifiedMatching OMIM:300222 ITM2A skos:exactMatch hgnc.symbol:ITM2A semapv:UnspecifiedMatching OMIM:300222 ITM2A skos:exactMatch ncbigene:9452 semapv:UnspecifiedMatching @@ -23795,6 +23990,7 @@ OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:10580 semapv:UnspecifiedMatching OMIM:300227 SCML1 skos:exactMatch hgnc.symbol:SCML1 semapv:UnspecifiedMatching OMIM:300227 SCML1 skos:exactMatch ncbigene:6322 semapv:UnspecifiedMatching OMIM:300228 testicular germ cell tumor 1 skos:exactMatch MONDO:0010274 semapv:UnspecifiedMatching +OMIM:300228 testicular germ cell tumor 1 skos:exactMatch hgnc.symbol:TGCT1 semapv:UnspecifiedMatching OMIM:300229 VCX skos:exactMatch hgnc.symbol:12667 semapv:UnspecifiedMatching OMIM:300229 VCX skos:exactMatch hgnc.symbol:VCX semapv:UnspecifiedMatching OMIM:300229 VCX skos:exactMatch ncbigene:26609 semapv:UnspecifiedMatching @@ -23835,6 +24031,7 @@ OMIM:300244 terminal osseous dysplasia skos:exactMatch MONDO:0010279 semapv:Uns OMIM:300244 terminal osseous dysplasia skos:exactMatch Orphanet:88630 semapv:UnspecifiedMatching OMIM:300244 terminal osseous dysplasia skos:exactMatch UMLS:C1846129 semapv:UnspecifiedMatching OMIM:300245 ptosis, hereditary congenital 2 skos:exactMatch MONDO:0010280 semapv:UnspecifiedMatching +OMIM:300245 ptosis, hereditary congenital 2 skos:exactMatch hgnc.symbol:PTOS2 semapv:UnspecifiedMatching OMIM:300246 PCDH11X skos:exactMatch hgnc.symbol:8656 semapv:UnspecifiedMatching OMIM:300246 PCDH11X skos:exactMatch hgnc.symbol:PCDH11X semapv:UnspecifiedMatching OMIM:300246 PCDH11X skos:exactMatch ncbigene:27328 semapv:UnspecifiedMatching @@ -23874,11 +24071,13 @@ OMIM:300257 danon disease skos:exactMatch MONDO:0010281 semapv:UnspecifiedMatch OMIM:300257 danon disease skos:exactMatch Orphanet:34587 semapv:UnspecifiedMatching OMIM:300257 danon disease skos:exactMatch UMLS:C0878677 semapv:UnspecifiedMatching OMIM:300259 mycobacterium tuberculosis, susceptibility to, X-linked skos:exactMatch MONDO:0010282 semapv:UnspecifiedMatching +OMIM:300259 mycobacterium tuberculosis, susceptibility to, X-linked skos:exactMatch hgnc.symbol:MTBSX semapv:UnspecifiedMatching OMIM:300260 intellectual developmental disorder, x-linked, syndromic, lubs type skos:exactMatch MONDO:0010283 semapv:UnspecifiedMatching OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield type skos:exactMatch MONDO:0010284 semapv:UnspecifiedMatching OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield type skos:exactMatch Orphanet:85276 semapv:UnspecifiedMatching OMIM:300261 intellectual developmental disorder, x-linked, syndromic, armfield type skos:exactMatch UMLS:C1846057 semapv:UnspecifiedMatching OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi type skos:exactMatch MONDO:0010285 semapv:UnspecifiedMatching +OMIM:300262 intellectual developmental disorder, x-linked, syndromic, abidi type skos:exactMatch hgnc.symbol:MRXSAB semapv:UnspecifiedMatching OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius type skos:exactMatch MONDO:0010286 semapv:UnspecifiedMatching OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius type skos:exactMatch Orphanet:85287 semapv:UnspecifiedMatching OMIM:300263 intellectual developmental disorder, x-linked, syndromic, siderius type skos:exactMatch UMLS:C1846055 semapv:UnspecifiedMatching @@ -23894,6 +24093,7 @@ OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:12874 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch hgnc.symbol:ZIC3 semapv:UnspecifiedMatching OMIM:300265 ZIC3 skos:exactMatch ncbigene:7547 semapv:UnspecifiedMatching OMIM:300266 spastic paraplegia 16, X-linked skos:exactMatch MONDO:0010287 semapv:UnspecifiedMatching +OMIM:300266 spastic paraplegia 16, X-linked skos:exactMatch hgnc.symbol:SPG16 semapv:UnspecifiedMatching OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:685 semapv:UnspecifiedMatching OMIM:300267 ARHGEF6 skos:exactMatch hgnc.symbol:ARHGEF6 semapv:UnspecifiedMatching OMIM:300267 ARHGEF6 skos:exactMatch ncbigene:9459 semapv:UnspecifiedMatching @@ -23908,6 +24108,7 @@ OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:14064 semapv:UnspecifiedMatching OMIM:300272 HDAC6 skos:exactMatch hgnc.symbol:HDAC6 semapv:UnspecifiedMatching OMIM:300272 HDAC6 skos:exactMatch ncbigene:10013 semapv:UnspecifiedMatching OMIM:300273 goiter, multinodular 2 skos:exactMatch MONDO:0010290 semapv:UnspecifiedMatching +OMIM:300273 goiter, multinodular 2 skos:exactMatch hgnc.symbol:MNG2 semapv:UnspecifiedMatching OMIM:300274 skos:exactMatch MONDO:0010291 semapv:UnspecifiedMatching OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:13398 semapv:UnspecifiedMatching OMIM:300275 NSDHL skos:exactMatch hgnc.symbol:NSDHL semapv:UnspecifiedMatching @@ -24052,6 +24253,7 @@ OMIM:300323 hyperuricemia, hprt-related skos:exactMatch MONDO:0010299 semapv:Un OMIM:300323 hyperuricemia, hprt-related skos:exactMatch Orphanet:79233 semapv:UnspecifiedMatching OMIM:300323 hyperuricemia, hprt-related skos:exactMatch UMLS:C0268117 semapv:UnspecifiedMatching OMIM:300324 intellectual developmental disorder, X-linked 53 skos:exactMatch MONDO:0010300 semapv:UnspecifiedMatching +OMIM:300324 intellectual developmental disorder, X-linked 53 skos:exactMatch hgnc.symbol:MRX53 semapv:UnspecifiedMatching OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:11337 semapv:UnspecifiedMatching OMIM:300325 SSX3 skos:exactMatch hgnc.symbol:SSX3 semapv:UnspecifiedMatching OMIM:300325 SSX3 skos:exactMatch ncbigene:10214 semapv:UnspecifiedMatching @@ -24113,6 +24315,7 @@ OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:6798 semapv:UnspecifiedMatching OMIM:300344 MAGEA11 skos:exactMatch hgnc.symbol:MAGEA11 semapv:UnspecifiedMatching OMIM:300344 MAGEA11 skos:exactMatch ncbigene:4110 semapv:UnspecifiedMatching OMIM:300345 microphthalmia/coloboma 1 skos:exactMatch MONDO:0024549 semapv:UnspecifiedMatching +OMIM:300345 microphthalmia/coloboma 1 skos:exactMatch hgnc.symbol:MCOPCB1 semapv:UnspecifiedMatching OMIM:300346 HTATSF1 skos:exactMatch UMLS:C1415794 semapv:UnspecifiedMatching OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:5276 semapv:UnspecifiedMatching OMIM:300346 HTATSF1 skos:exactMatch hgnc.symbol:HTATSF1 semapv:UnspecifiedMatching @@ -24130,12 +24333,14 @@ OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:29861 semapv:UnspecifiedMatching OMIM:300350 CHRDL1 skos:exactMatch hgnc.symbol:CHRDL1 semapv:UnspecifiedMatching OMIM:300350 CHRDL1 skos:exactMatch ncbigene:91851 semapv:UnspecifiedMatching OMIM:300351 graves disease, susceptibility to, X-linked 1 skos:exactMatch MONDO:0010304 semapv:UnspecifiedMatching +OMIM:300351 graves disease, susceptibility to, X-linked 1 skos:exactMatch hgnc.symbol:GRDX semapv:UnspecifiedMatching OMIM:300352 cerebral creatine deficiency syndrome 1 skos:exactMatch MONDO:0010305 semapv:UnspecifiedMatching OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:17032 semapv:UnspecifiedMatching OMIM:300353 VSIG4 skos:exactMatch hgnc.symbol:VSIG4 semapv:UnspecifiedMatching OMIM:300353 VSIG4 skos:exactMatch ncbigene:11326 semapv:UnspecifiedMatching OMIM:300354 intellectual developmental disorder, x-linked, syndromic, cabezas type skos:exactMatch MONDO:0010306 semapv:UnspecifiedMatching OMIM:300355 intellectual developmental disorder, X-linked 73 skos:exactMatch MONDO:0010307 semapv:UnspecifiedMatching +OMIM:300355 intellectual developmental disorder, X-linked 73 skos:exactMatch hgnc.symbol:MRX73 semapv:UnspecifiedMatching OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:11817 semapv:UnspecifiedMatching OMIM:300356 TIMM8A skos:exactMatch hgnc.symbol:TIMM8A semapv:UnspecifiedMatching OMIM:300356 TIMM8A skos:exactMatch ncbigene:1678 semapv:UnspecifiedMatching @@ -24185,6 +24390,7 @@ OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:61 semapv:UnspecifiedMatching OMIM:300371 ABCD1 skos:exactMatch hgnc.symbol:ABCD1 semapv:UnspecifiedMatching OMIM:300371 ABCD1 skos:exactMatch ncbigene:215 semapv:UnspecifiedMatching OMIM:300372 intellectual developmental disorder, X-linked 42 skos:exactMatch MONDO:0010309 semapv:UnspecifiedMatching +OMIM:300372 intellectual developmental disorder, X-linked 42 skos:exactMatch hgnc.symbol:MRX42 semapv:UnspecifiedMatching OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch MONDO:0010310 semapv:UnspecifiedMatching OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch Orphanet:2780 semapv:UnspecifiedMatching OMIM:300373 osteopathia striata with cranial sclerosis skos:exactMatch UMLS:C0432268 semapv:UnspecifiedMatching @@ -24199,6 +24405,7 @@ OMIM:300377 DMD skos:exactMatch hgnc.symbol:2928 semapv:UnspecifiedMatching OMIM:300377 DMD skos:exactMatch hgnc.symbol:DMD semapv:UnspecifiedMatching OMIM:300377 DMD skos:exactMatch ncbigene:1756 semapv:UnspecifiedMatching OMIM:300378 radial ray deficiency, X-linked skos:exactMatch MONDO:0010312 semapv:UnspecifiedMatching +OMIM:300378 radial ray deficiency, X-linked skos:exactMatch hgnc.symbol:RRDX semapv:UnspecifiedMatching OMIM:300379 RLIM skos:exactMatch hgnc.symbol:13429 semapv:UnspecifiedMatching OMIM:300379 RLIM skos:exactMatch hgnc.symbol:RLIM semapv:UnspecifiedMatching OMIM:300379 RLIM skos:exactMatch ncbigene:51132 semapv:UnspecifiedMatching @@ -24282,6 +24489,7 @@ OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:25410 semapv:UnspecifiedMatchin OMIM:300405 RAB40AL skos:exactMatch hgnc.symbol:RAB40AL semapv:UnspecifiedMatching OMIM:300405 RAB40AL skos:exactMatch ncbigene:282808 semapv:UnspecifiedMatching OMIM:300406 fg syndrome 3 skos:exactMatch MONDO:0010316 semapv:UnspecifiedMatching +OMIM:300406 fg syndrome 3 skos:exactMatch hgnc.symbol:FGS3 semapv:UnspecifiedMatching OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:13629 semapv:UnspecifiedMatching OMIM:300407 PABPC5 skos:exactMatch hgnc.symbol:PABPC5 semapv:UnspecifiedMatching OMIM:300407 PABPC5 skos:exactMatch ncbigene:140886 semapv:UnspecifiedMatching @@ -24347,6 +24555,7 @@ OMIM:300431 atkin-flaitz syndrome skos:exactMatch MONDO:0010323 semapv:Unspecif OMIM:300431 atkin-flaitz syndrome skos:exactMatch Orphanet:1193 semapv:UnspecifiedMatching OMIM:300431 atkin-flaitz syndrome skos:exactMatch UMLS:C0796206 semapv:UnspecifiedMatching OMIM:300433 intellectual developmental disorder, X-linked 81 skos:exactMatch MONDO:0010324 semapv:UnspecifiedMatching +OMIM:300433 intellectual developmental disorder, X-linked 81 skos:exactMatch hgnc.symbol:MRX81 semapv:UnspecifiedMatching OMIM:300434 intellectual developmental disorder, x-linked, syndromic, stocco dos santos type skos:exactMatch MONDO:0010325 semapv:UnspecifiedMatching OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:16090 semapv:UnspecifiedMatching OMIM:300435 PGRMC1 skos:exactMatch hgnc.symbol:PGRMC1 semapv:UnspecifiedMatching @@ -24398,6 +24607,7 @@ OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:18786 semapv:UnspecifiedMatching OMIM:300453 FAM50A skos:exactMatch hgnc.symbol:FAM50A semapv:UnspecifiedMatching OMIM:300453 FAM50A skos:exactMatch ncbigene:9130 semapv:UnspecifiedMatching OMIM:300454 intellectual developmental disorder, X-linked 77 skos:exactMatch MONDO:0010329 semapv:UnspecifiedMatching +OMIM:300454 intellectual developmental disorder, X-linked 77 skos:exactMatch hgnc.symbol:MRX77 semapv:UnspecifiedMatching OMIM:300455 retinitis pigmentosa, x-linked, and sinorespiratory infections with or without deafness skos:exactMatch MONDO:0010330 semapv:UnspecifiedMatching OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:18709 semapv:UnspecifiedMatching OMIM:300456 CCNB3 skos:exactMatch hgnc.symbol:CCNB3 semapv:UnspecifiedMatching @@ -24426,6 +24636,7 @@ OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:9330 semapv:UnspecifiedMatching OMIM:300463 PQBP1 skos:exactMatch hgnc.symbol:PQBP1 semapv:UnspecifiedMatching OMIM:300463 PQBP1 skos:exactMatch ncbigene:10084 semapv:UnspecifiedMatching OMIM:300464 coronary heart disease, susceptibility to, 3 skos:exactMatch MONDO:0010331 semapv:UnspecifiedMatching +OMIM:300464 coronary heart disease, susceptibility to, 3 skos:exactMatch hgnc.symbol:CHDS3 semapv:UnspecifiedMatching OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:23795 semapv:UnspecifiedMatching OMIM:300466 MAGEB5 skos:exactMatch hgnc.symbol:MAGEB5 semapv:UnspecifiedMatching OMIM:300466 MAGEB5 skos:exactMatch ncbigene:347541 semapv:UnspecifiedMatching @@ -24442,6 +24653,7 @@ OMIM:300470 MAGED2 skos:exactMatch hgnc.symbol:16353 semapv:UnspecifiedMatching OMIM:300470 MAGED2 skos:exactMatch hgnc.symbol:MAGED2 semapv:UnspecifiedMatching OMIM:300470 MAGED2 skos:exactMatch ncbigene:10916 semapv:UnspecifiedMatching OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies skos:exactMatch MONDO:0010332 semapv:UnspecifiedMatching +OMIM:300471 cubitus valgus with impaired intellectual development and unusual facies skos:exactMatch hgnc.symbol:CVMRF semapv:UnspecifiedMatching OMIM:300472 corpus callosum, agenesis of, with impaired intellectual development, ocular coloboma, and micrognathia skos:exactMatch MONDO:0010333 semapv:UnspecifiedMatching OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:7960 semapv:UnspecifiedMatching OMIM:300473 NR0B1 skos:exactMatch hgnc.symbol:NR0B1 semapv:UnspecifiedMatching @@ -24485,6 +24697,7 @@ OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:24027 semapv:UnspecifiedMatching OMIM:300487 ACTRT1 skos:exactMatch hgnc.symbol:ACTRT1 semapv:UnspecifiedMatching OMIM:300487 ACTRT1 skos:exactMatch ncbigene:139741 semapv:UnspecifiedMatching OMIM:300488 menopause, natural, age at, quantitative trait locus 1 skos:exactMatch MONDO:0044261 semapv:UnspecifiedMatching +OMIM:300488 menopause, natural, age at, quantitative trait locus 1 skos:exactMatch hgnc.symbol:MENOQ1 semapv:UnspecifiedMatching OMIM:300489 neuronopathy, distal hereditary motor, X-linked skos:exactMatch MONDO:0010338 semapv:UnspecifiedMatching OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:10820 semapv:UnspecifiedMatching OMIM:300490 SH2D1A skos:exactMatch hgnc.symbol:SH2D1A semapv:UnspecifiedMatching @@ -24508,6 +24721,7 @@ OMIM:300502 PDHA1 skos:exactMatch hgnc.symbol:PDHA1 semapv:UnspecifiedMatching OMIM:300502 PDHA1 skos:exactMatch ncbigene:5160 semapv:UnspecifiedMatching OMIM:300504 skos:exactMatch MONDO:0010346 semapv:UnspecifiedMatching OMIM:300505 intellectual developmental disorder, X-linked 84 skos:exactMatch MONDO:0010347 semapv:UnspecifiedMatching +OMIM:300505 intellectual developmental disorder, X-linked 84 skos:exactMatch hgnc.symbol:MRX84 semapv:UnspecifiedMatching OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:3051 semapv:UnspecifiedMatching OMIM:300506 TSC22D3 skos:exactMatch hgnc.symbol:TSC22D3 semapv:UnspecifiedMatching OMIM:300506 TSC22D3 skos:exactMatch ncbigene:1831 semapv:UnspecifiedMatching @@ -24519,6 +24733,7 @@ OMIM:300508 UTP14A skos:exactMatch hgnc.symbol:10665 semapv:UnspecifiedMatching OMIM:300508 UTP14A skos:exactMatch hgnc.symbol:UTP14A semapv:UnspecifiedMatching OMIM:300508 UTP14A skos:exactMatch ncbigene:10813 semapv:UnspecifiedMatching OMIM:300509 dyslexia, susceptibility to, 9 skos:exactMatch MONDO:0010348 semapv:UnspecifiedMatching +OMIM:300509 dyslexia, susceptibility to, 9 skos:exactMatch hgnc.symbol:DYX9 semapv:UnspecifiedMatching OMIM:300510 ovarian dysgenesis 2 skos:exactMatch MONDO:0010349 semapv:UnspecifiedMatching OMIM:300510 ovarian dysgenesis 2 skos:exactMatch Orphanet:243 semapv:UnspecifiedMatching OMIM:300510 ovarian dysgenesis 2 skos:exactMatch UMLS:C1845294 semapv:UnspecifiedMatching @@ -24541,7 +24756,9 @@ OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:33147 semapv:UnspecifiedMatching OMIM:300517 SPIN2B skos:exactMatch hgnc.symbol:SPIN2B semapv:UnspecifiedMatching OMIM:300517 SPIN2B skos:exactMatch ncbigene:474343 semapv:UnspecifiedMatching OMIM:300518 intellectual developmental disorder, X-linked 82 skos:exactMatch MONDO:0010352 semapv:UnspecifiedMatching +OMIM:300518 intellectual developmental disorder, X-linked 82 skos:exactMatch hgnc.symbol:MRX82 semapv:UnspecifiedMatching OMIM:300519 martin-probst syndrome skos:exactMatch MONDO:0010353 semapv:UnspecifiedMatching +OMIM:300519 martin-probst syndrome skos:exactMatch hgnc.symbol:MRXSMP semapv:UnspecifiedMatching OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:2041 semapv:UnspecifiedMatching OMIM:300520 CLDN2 skos:exactMatch hgnc.symbol:CLDN2 semapv:UnspecifiedMatching OMIM:300520 CLDN2 skos:exactMatch ncbigene:9075 semapv:UnspecifiedMatching @@ -24591,6 +24808,7 @@ OMIM:300535 OCRL skos:exactMatch UMLS:C1845167 semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch hgnc.symbol:8108 semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch hgnc.symbol:OCRL semapv:UnspecifiedMatching OMIM:300535 OCRL skos:exactMatch ncbigene:4952 semapv:UnspecifiedMatching +OMIM:300536 bone mineral density quantitative trait locus 4 skos:exactMatch hgnc.symbol:BMND4 semapv:UnspecifiedMatching OMIM:300537 skos:exactMatch MONDO:0019348 semapv:UnspecifiedMatching OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:897 semapv:UnspecifiedMatching OMIM:300538 AVPR2 skos:exactMatch hgnc.symbol:AVPR2 semapv:UnspecifiedMatching @@ -24653,6 +24871,7 @@ OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:18305 semapv:UnspecifiedMatchin OMIM:300556 ATP6AP2 skos:exactMatch hgnc.symbol:ATP6AP2 semapv:UnspecifiedMatching OMIM:300556 ATP6AP2 skos:exactMatch ncbigene:10159 semapv:UnspecifiedMatching OMIM:300557 parkinson disease 12 skos:exactMatch MONDO:0010360 semapv:UnspecifiedMatching +OMIM:300557 parkinson disease 12 skos:exactMatch hgnc.symbol:PARK12 semapv:UnspecifiedMatching OMIM:300558 intellectual developmental disorder, X-linked 30 skos:exactMatch MONDO:0010361 semapv:UnspecifiedMatching OMIM:300559 glycogen storage disease ixd skos:exactMatch MONDO:0010362 semapv:UnspecifiedMatching OMIM:300560 PHF8 skos:exactMatch hgnc.symbol:20672 semapv:UnspecifiedMatching @@ -24703,7 +24922,9 @@ OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:29215 semapv:UnspecifiedMatchin OMIM:300579 SHROOM4 skos:exactMatch hgnc.symbol:SHROOM4 semapv:UnspecifiedMatching OMIM:300579 SHROOM4 skos:exactMatch ncbigene:57477 semapv:UnspecifiedMatching OMIM:300580 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch MONDO:0010365 semapv:UnspecifiedMatching +OMIM:300580 myopathy, congenital, with fiber-type disproportion, X-linked skos:exactMatch hgnc.symbol:CFTDX semapv:UnspecifiedMatching OMIM:300581 fg syndrome 5 skos:exactMatch MONDO:0010366 semapv:UnspecifiedMatching +OMIM:300581 fg syndrome 5 skos:exactMatch hgnc.symbol:FGS5 semapv:UnspecifiedMatching OMIM:300582 short stature, idiopathic, X-linked skos:exactMatch MONDO:0010367 semapv:UnspecifiedMatching OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:20985 semapv:UnspecifiedMatching OMIM:300583 VGLL1 skos:exactMatch hgnc.symbol:VGLL1 semapv:UnspecifiedMatching @@ -24721,9 +24942,11 @@ OMIM:300588 TENM1 skos:exactMatch hgnc.symbol:8117 semapv:UnspecifiedMatching OMIM:300588 TENM1 skos:exactMatch hgnc.symbol:TENM1 semapv:UnspecifiedMatching OMIM:300588 TENM1 skos:exactMatch ncbigene:10178 semapv:UnspecifiedMatching OMIM:300589 nystagmus 5, congenital, X-linked skos:exactMatch MONDO:0010369 semapv:UnspecifiedMatching +OMIM:300589 nystagmus 5, congenital, X-linked skos:exactMatch hgnc.symbol:NYS5 semapv:UnspecifiedMatching OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch MONDO:0010370 semapv:UnspecifiedMatching OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching OMIM:300590 cornelia lange lange syndrome 2 skos:exactMatch UMLS:C1802395 semapv:UnspecifiedMatching +OMIM:300591 stature quantitative trait locus 6 skos:exactMatch hgnc.symbol:STQTL6 semapv:UnspecifiedMatching OMIM:300592 CT47A11 skos:exactMatch hgnc.symbol:27397 semapv:UnspecifiedMatching OMIM:300592 CT47A11 skos:exactMatch hgnc.symbol:CT47A11 semapv:UnspecifiedMatching OMIM:300592 CT47A11 skos:exactMatch ncbigene:255313 semapv:UnspecifiedMatching @@ -24754,6 +24977,7 @@ OMIM:300603 POF1B skos:exactMatch hgnc.symbol:POF1B semapv:UnspecifiedMatching OMIM:300603 POF1B skos:exactMatch ncbigene:79983 semapv:UnspecifiedMatching OMIM:300604 premature ovarian failure 2b skos:exactMatch MONDO:0010373 semapv:UnspecifiedMatching OMIM:300605 retinitis pigmentosa 34 skos:exactMatch MONDO:0010374 semapv:UnspecifiedMatching +OMIM:300605 retinitis pigmentosa 34 skos:exactMatch hgnc.symbol:RP34 semapv:UnspecifiedMatching OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch MONDO:0010375 semapv:UnspecifiedMatching OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:163985 semapv:UnspecifiedMatching OMIM:300607 developmental and epileptic encephalopathy 8 skos:exactMatch Orphanet:2076 semapv:UnspecifiedMatching @@ -24772,6 +24996,7 @@ OMIM:300611 C1GALT1C1 skos:exactMatch hgnc.symbol:24338 semapv:UnspecifiedMatch OMIM:300611 C1GALT1C1 skos:exactMatch hgnc.symbol:C1GALT1C1 semapv:UnspecifiedMatching OMIM:300611 C1GALT1C1 skos:exactMatch ncbigene:29071 semapv:UnspecifiedMatching OMIM:300613 myopia 13, X-linked skos:exactMatch MONDO:0010377 semapv:UnspecifiedMatching +OMIM:300613 myopia 13, X-linked skos:exactMatch hgnc.symbol:MYP13 semapv:UnspecifiedMatching OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch MONDO:0010378 semapv:UnspecifiedMatching OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch Orphanet:139583 semapv:UnspecifiedMatching OMIM:300614 deafness, X-linked 5, with peripheral neuropathy skos:exactMatch UMLS:C1845095 semapv:UnspecifiedMatching @@ -24861,10 +25086,12 @@ OMIM:300649 SLC38A5 skos:exactMatch ncbigene:92745 semapv:UnspecifiedMatching OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch MONDO:0010390 semapv:UnspecifiedMatching OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch Orphanet:1000 semapv:UnspecifiedMatching OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch UMLS:C1845069 semapv:UnspecifiedMatching +OMIM:300650 albinism, ocular, with late-onset sensorineural deafness skos:exactMatch hgnc.symbol:OASD semapv:UnspecifiedMatching OMIM:300651 PORCN skos:exactMatch hgnc.symbol:17652 semapv:UnspecifiedMatching OMIM:300651 PORCN skos:exactMatch hgnc.symbol:PORCN semapv:UnspecifiedMatching OMIM:300651 PORCN skos:exactMatch ncbigene:64840 semapv:UnspecifiedMatching OMIM:300652 angioma serpiginosum, X-linked skos:exactMatch MONDO:0010391 semapv:UnspecifiedMatching +OMIM:300652 angioma serpiginosum, X-linked skos:exactMatch hgnc.symbol:AGSPX semapv:UnspecifiedMatching OMIM:300653 phosphoglycerate kinase 1 deficiency skos:exactMatch MONDO:0010392 semapv:UnspecifiedMatching OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:26440 semapv:UnspecifiedMatching OMIM:300654 FAAH2 skos:exactMatch hgnc.symbol:FAAH2 semapv:UnspecifiedMatching @@ -24994,6 +25221,7 @@ OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type sk OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type skos:exactMatch Orphanet:364028 semapv:UnspecifiedMatching OMIM:300699 intellectual developmental disorder, x-linked, syndromic, wu type skos:exactMatch UMLS:C2678051 semapv:UnspecifiedMatching OMIM:300700 albinism-deafness syndrome skos:exactMatch MONDO:0010403 semapv:UnspecifiedMatching +OMIM:300700 albinism-deafness syndrome skos:exactMatch hgnc.symbol:ADFN semapv:UnspecifiedMatching OMIM:300701 ZCCHC12 skos:exactMatch hgnc.symbol:27273 semapv:UnspecifiedMatching OMIM:300701 ZCCHC12 skos:exactMatch hgnc.symbol:ZCCHC12 semapv:UnspecifiedMatching OMIM:300701 ZCCHC12 skos:exactMatch ncbigene:170261 semapv:UnspecifiedMatching @@ -25001,7 +25229,9 @@ OMIM:300702 MAGED4 skos:exactMatch hgnc.symbol:23793 semapv:UnspecifiedMatching OMIM:300702 MAGED4 skos:exactMatch hgnc.symbol:MAGED4 semapv:UnspecifiedMatching OMIM:300702 MAGED4 skos:exactMatch ncbigene:728239 semapv:UnspecifiedMatching OMIM:300703 spinocerebellar ataxia, X-linked 5 skos:exactMatch MONDO:0010404 semapv:UnspecifiedMatching +OMIM:300703 spinocerebellar ataxia, X-linked 5 skos:exactMatch hgnc.symbol:SCAX5 semapv:UnspecifiedMatching OMIM:300704 prostate cancer, hereditary, X-linked 2 skos:exactMatch MONDO:0010405 semapv:UnspecifiedMatching +OMIM:300704 prostate cancer, hereditary, X-linked 2 skos:exactMatch hgnc.symbol:HPCX2 semapv:UnspecifiedMatching OMIM:300705 chromosome xp11.22 duplication syndrome skos:exactMatch MONDO:0010406 semapv:UnspecifiedMatching OMIM:300707 toe syndactyly, telecanthus, and anogenital and renal malformations skos:exactMatch MONDO:0010408 semapv:UnspecifiedMatching OMIM:300708 CCNQ skos:exactMatch hgnc.symbol:28434 semapv:UnspecifiedMatching @@ -25009,8 +25239,11 @@ OMIM:300708 CCNQ skos:exactMatch hgnc.symbol:CCNQ semapv:UnspecifiedMatching OMIM:300708 CCNQ skos:exactMatch ncbigene:92002 semapv:UnspecifiedMatching OMIM:300709 intellectual developmental disorder, x-linked, syndromic 9 skos:exactMatch MONDO:0010409 semapv:UnspecifiedMatching OMIM:300710 alopecia, androgenetic, 2 skos:exactMatch MONDO:0010410 semapv:UnspecifiedMatching +OMIM:300710 alopecia, androgenetic, 2 skos:exactMatch hgnc.symbol:AGA2 semapv:UnspecifiedMatching OMIM:300711 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch MONDO:0010411 semapv:UnspecifiedMatching +OMIM:300711 pyloric stenosis, infantile hypertrophic, 4 skos:exactMatch hgnc.symbol:IHPS4 semapv:UnspecifiedMatching OMIM:300712 craniofacioskeletal syndrome skos:exactMatch MONDO:0010412 semapv:UnspecifiedMatching +OMIM:300712 craniofacioskeletal syndrome skos:exactMatch hgnc.symbol:CFSS semapv:UnspecifiedMatching OMIM:300713 OTUD5 skos:exactMatch hgnc.symbol:25402 semapv:UnspecifiedMatching OMIM:300713 OTUD5 skos:exactMatch hgnc.symbol:OTUD5 semapv:UnspecifiedMatching OMIM:300713 OTUD5 skos:exactMatch ncbigene:55593 semapv:UnspecifiedMatching @@ -25023,9 +25256,11 @@ OMIM:300715 MAGT1 skos:exactMatch ncbigene:84061 semapv:UnspecifiedMatching OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch MONDO:0010413 semapv:UnspecifiedMatching OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch Orphanet:777 semapv:UnspecifiedMatching OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch UMLS:C2678034 semapv:UnspecifiedMatching +OMIM:300716 intellectual developmental disorder, X-linked 95 skos:exactMatch hgnc.symbol:MRX95 semapv:UnspecifiedMatching OMIM:300717 reducing body myopathy, X-linked 1a, severe, with infantile or early childhood onset skos:exactMatch MONDO:0010414 semapv:UnspecifiedMatching OMIM:300718 reducing body myopathy, X-linked 1b, with late childhood or adult onset skos:exactMatch MONDO:0010415 semapv:UnspecifiedMatching OMIM:300719 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch MONDO:0010416 semapv:UnspecifiedMatching +OMIM:300719 deafness, cataract, retinitis pigmentosa, and sperm abnormalities skos:exactMatch hgnc.symbol:DFCTRPS semapv:UnspecifiedMatching OMIM:300720 GAGE2A skos:exactMatch hgnc.symbol:4099 semapv:UnspecifiedMatching OMIM:300720 GAGE2A skos:exactMatch hgnc.symbol:GAGE2A semapv:UnspecifiedMatching OMIM:300720 GAGE2A skos:exactMatch ncbigene:729447 semapv:UnspecifiedMatching @@ -25114,6 +25349,7 @@ OMIM:300748 GPR82 skos:exactMatch hgnc.symbol:GPR82 semapv:UnspecifiedMatching OMIM:300748 GPR82 skos:exactMatch ncbigene:27197 semapv:UnspecifiedMatching OMIM:300749 intellectual developmental disorder with microcephaly and pontine and cerebellar hypoplasia skos:exactMatch MONDO:0010417 semapv:UnspecifiedMatching OMIM:300750 spastic paraplegia 34, X-linked skos:exactMatch MONDO:0010418 semapv:UnspecifiedMatching +OMIM:300750 spastic paraplegia 34, X-linked skos:exactMatch hgnc.symbol:SPG34 semapv:UnspecifiedMatching OMIM:300751 anemia, sideroblastic, 1 skos:exactMatch MONDO:0020721 semapv:UnspecifiedMatching OMIM:300752 protoporphyria, erythropoietic, X-linked skos:exactMatch MONDO:0010420 semapv:UnspecifiedMatching OMIM:300753 APOO skos:exactMatch hgnc.symbol:28727 semapv:UnspecifiedMatching @@ -25124,6 +25360,7 @@ OMIM:300754 TAF9B skos:exactMatch hgnc.symbol:TAF9B semapv:UnspecifiedMatching OMIM:300754 TAF9B skos:exactMatch ncbigene:51616 semapv:UnspecifiedMatching OMIM:300755 agammaglobulinemia, X-linked skos:exactMatch MONDO:0010421 semapv:UnspecifiedMatching OMIM:300756 alzheimer disease 16 skos:exactMatch MONDO:0010422 semapv:UnspecifiedMatching +OMIM:300756 alzheimer disease 16 skos:exactMatch hgnc.symbol:AD16 semapv:UnspecifiedMatching OMIM:300757 RP2 skos:exactMatch hgnc.symbol:10274 semapv:UnspecifiedMatching OMIM:300757 RP2 skos:exactMatch hgnc.symbol:RP2 semapv:UnspecifiedMatching OMIM:300757 RP2 skos:exactMatch ncbigene:6102 semapv:UnspecifiedMatching @@ -25192,6 +25429,7 @@ OMIM:300777 TMLHE skos:exactMatch ncbigene:55217 semapv:UnspecifiedMatching OMIM:300778 skos:exactMatch Orphanet:98955 semapv:UnspecifiedMatching OMIM:300778 skos:exactMatch UMLS:C2749050 semapv:UnspecifiedMatching OMIM:300779 corneal dystrophy, endothelial, X-linked skos:exactMatch MONDO:0010426 semapv:UnspecifiedMatching +OMIM:300779 corneal dystrophy, endothelial, X-linked skos:exactMatch hgnc.symbol:XECD semapv:UnspecifiedMatching OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:33282 semapv:UnspecifiedMatching OMIM:300780 CT47A1 skos:exactMatch hgnc.symbol:CT47A1 semapv:UnspecifiedMatching OMIM:300780 CT47A1 skos:exactMatch ncbigene:728096 semapv:UnspecifiedMatching @@ -25267,6 +25505,7 @@ OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:20145 semapv:UnspecifiedMatching OMIM:300808 GPR143 skos:exactMatch hgnc.symbol:GPR143 semapv:UnspecifiedMatching OMIM:300808 GPR143 skos:exactMatch ncbigene:4935 semapv:UnspecifiedMatching OMIM:300809 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch MONDO:0010433 semapv:UnspecifiedMatching +OMIM:300809 systemic lupus erythematosus, susceptibility to, 15 skos:exactMatch hgnc.symbol:SLEB15 semapv:UnspecifiedMatching OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:31649 semapv:UnspecifiedMatching OMIM:300810 MIR98 skos:exactMatch hgnc.symbol:MIR98 semapv:UnspecifiedMatching OMIM:300810 MIR98 skos:exactMatch ncbigene:407054 semapv:UnspecifiedMatching @@ -25354,6 +25593,7 @@ OMIM:300841 F8 skos:exactMatch hgnc.symbol:F8 semapv:UnspecifiedMatching OMIM:300841 F8 skos:exactMatch ncbigene:2157 semapv:UnspecifiedMatching OMIM:300842 mcleod syndrome skos:exactMatch MONDO:0018945 semapv:UnspecifiedMatching OMIM:300843 bornholm eye disease skos:exactMatch MONDO:0010446 semapv:UnspecifiedMatching +OMIM:300843 bornholm eye disease skos:exactMatch hgnc.symbol:BED semapv:UnspecifiedMatching OMIM:300844 intellectual developmental disorder, X-linked 19 skos:exactMatch MONDO:0010447 semapv:UnspecifiedMatching OMIM:300845 moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism skos:exactMatch MONDO:0010448 semapv:UnspecifiedMatching OMIM:300846 CD99L2 skos:exactMatch hgnc.symbol:18237 semapv:UnspecifiedMatching @@ -25364,13 +25604,17 @@ OMIM:300848 intellectual developmental disorder, X-linked 89 skos:exactMatch MON OMIM:300849 intellectual developmental disorder, X-linked 41 skos:exactMatch MONDO:0010451 semapv:UnspecifiedMatching OMIM:300850 intellectual developmental disorder, X-linked 90 skos:exactMatch MONDO:0010452 semapv:UnspecifiedMatching OMIM:300851 intellectual developmental disorder, X-linked 92 skos:exactMatch MONDO:0010453 semapv:UnspecifiedMatching +OMIM:300851 intellectual developmental disorder, X-linked 92 skos:exactMatch hgnc.symbol:MRX92 semapv:UnspecifiedMatching OMIM:300852 intellectual developmental disorder, X-linked 88 skos:exactMatch MONDO:0010454 semapv:UnspecifiedMatching +OMIM:300852 intellectual developmental disorder, X-linked 88 skos:exactMatch hgnc.symbol:MRX88 semapv:UnspecifiedMatching OMIM:300853 immunodeficiency, x-linked, with magnesium defect, epstein-barr virus infection, and neoplasia skos:exactMatch MONDO:0010455 semapv:UnspecifiedMatching OMIM:300854 renal cell carcinoma, xp11-associated skos:exactMatch MONDO:0010456 semapv:UnspecifiedMatching OMIM:300855 ogden syndrome skos:exactMatch MONDO:0010457 semapv:UnspecifiedMatching OMIM:300856 hypospadias 4, x-linked, susceptibility to skos:exactMatch MONDO:0010458 semapv:UnspecifiedMatching +OMIM:300856 hypospadias 4, x-linked, susceptibility to skos:exactMatch hgnc.symbol:HYSP4 semapv:UnspecifiedMatching OMIM:300857 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia skos:exactMatch MONDO:0010459 semapv:UnspecifiedMatching OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 skos:exactMatch MONDO:0010460 semapv:UnspecifiedMatching +OMIM:300858 intellectual developmental disorder, x-linked, syndromic 17 skos:exactMatch hgnc.symbol:MRXS17 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch UMLS:C1824547 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch UMLS:C4225419 semapv:UnspecifiedMatching OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:28909 semapv:UnspecifiedMatching @@ -25378,11 +25622,13 @@ OMIM:300859 CCDC22 skos:exactMatch hgnc.symbol:CCDC22 semapv:UnspecifiedMatchin OMIM:300859 CCDC22 skos:exactMatch ncbigene:28952 semapv:UnspecifiedMatching OMIM:300860 intellectual developmental disorder, x-linked, syndromic, nascimento type skos:exactMatch MONDO:0010461 semapv:UnspecifiedMatching OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz type skos:exactMatch MONDO:0010462 semapv:UnspecifiedMatching +OMIM:300861 intellectual developmental disorder, x-linked, syndromic, chudley-schwartz type skos:exactMatch hgnc.symbol:MRXSCS semapv:UnspecifiedMatching OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:17152 semapv:UnspecifiedMatching OMIM:300862 ACOT9 skos:exactMatch hgnc.symbol:ACOT9 semapv:UnspecifiedMatching OMIM:300862 ACOT9 skos:exactMatch ncbigene:23597 semapv:UnspecifiedMatching OMIM:300863 chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia skos:exactMatch MONDO:0010463 semapv:UnspecifiedMatching OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked skos:exactMatch MONDO:0010464 semapv:UnspecifiedMatching +OMIM:300864 cerebral-cerebellar-coloboma syndrome, X-linked skos:exactMatch hgnc.symbol:CCCSX semapv:UnspecifiedMatching OMIM:300865 MIR503 skos:exactMatch hgnc.symbol:32138 semapv:UnspecifiedMatching OMIM:300865 MIR503 skos:exactMatch hgnc.symbol:MIR503 semapv:UnspecifiedMatching OMIM:300865 MIR503 skos:exactMatch ncbigene:574506 semapv:UnspecifiedMatching @@ -25438,6 +25684,7 @@ OMIM:300885 COX7B skos:exactMatch hgnc.symbol:2291 semapv:UnspecifiedMatching OMIM:300885 COX7B skos:exactMatch hgnc.symbol:COX7B semapv:UnspecifiedMatching OMIM:300885 COX7B skos:exactMatch ncbigene:1349 semapv:UnspecifiedMatching OMIM:300886 intellectual developmental disorder, x-linked, syndromic 32 skos:exactMatch MONDO:0010473 semapv:UnspecifiedMatching +OMIM:300886 intellectual developmental disorder, x-linked, syndromic 32 skos:exactMatch hgnc.symbol:MRXS32 semapv:UnspecifiedMatching OMIM:300887 linear skin defects with multiple congenital anomalies 2 skos:exactMatch MONDO:0010474 semapv:UnspecifiedMatching OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch MONDO:0010475 semapv:UnspecifiedMatching OMIM:300888 hypothyroidism, central, with testicular enlargement skos:exactMatch Orphanet:329235 semapv:UnspecifiedMatching @@ -25950,11 +26197,22 @@ OMIM:301117 CXORF38 skos:exactMatch hgnc.symbol:CXorf38 semapv:UnspecifiedMatch OMIM:301117 CXORF38 skos:exactMatch ncbigene:159013 semapv:UnspecifiedMatching OMIM:301118 intellectual developmental disorder, x-linked, syndromic 37 skos:exactMatch MONDO:0958322 semapv:UnspecifiedMatching OMIM:301119 spermatogenic failure, x-linked, 8 skos:exactMatch MONDO:0970943 semapv:UnspecifiedMatching +OMIM:301120 prostate cancer, hereditary, X-linked 3 skos:exactMatch MONDO:0971170 semapv:UnspecifiedMatching OMIM:301121 MAP7D2 skos:exactMatch hgnc.symbol:25899 semapv:UnspecifiedMatching OMIM:301121 MAP7D2 skos:exactMatch hgnc.symbol:MAP7D2 semapv:UnspecifiedMatching OMIM:301121 MAP7D2 skos:exactMatch ncbigene:256714 semapv:UnspecifiedMatching +OMIM:301122 ZCCHC18 skos:exactMatch hgnc.symbol:32459 semapv:UnspecifiedMatching +OMIM:301122 ZCCHC18 skos:exactMatch hgnc.symbol:ZCCHC18 semapv:UnspecifiedMatching +OMIM:301122 ZCCHC18 skos:exactMatch ncbigene:644353 semapv:UnspecifiedMatching +OMIM:301123 TEX13C skos:exactMatch hgnc.symbol:52277 semapv:UnspecifiedMatching +OMIM:301123 TEX13C skos:exactMatch hgnc.symbol:TEX13C semapv:UnspecifiedMatching +OMIM:301123 TEX13C skos:exactMatch ncbigene:100129520 semapv:UnspecifiedMatching +OMIM:301124 TEX13D skos:exactMatch hgnc.symbol:52278 semapv:UnspecifiedMatching +OMIM:301124 TEX13D skos:exactMatch hgnc.symbol:TEX13D semapv:UnspecifiedMatching +OMIM:301124 TEX13D skos:exactMatch ncbigene:100132015 semapv:UnspecifiedMatching OMIM:301200 amelogenesis imperfecta, type 1e skos:exactMatch MONDO:0010521 semapv:UnspecifiedMatching OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 skos:exactMatch MONDO:0010522 semapv:UnspecifiedMatching +OMIM:301201 amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2 skos:exactMatch hgnc.symbol:AIH3 semapv:UnspecifiedMatching OMIM:301220 pigmentary disorder, reticulate, with systemic manifestations, X-linked skos:exactMatch MONDO:0010523 semapv:UnspecifiedMatching OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:397 semapv:UnspecifiedMatching OMIM:301300 ALAS2 skos:exactMatch hgnc.symbol:ALAS2 semapv:UnspecifiedMatching @@ -25973,6 +26231,7 @@ OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:716 semapv:UnspecifiedMatching OMIM:301780 ARSC2 skos:exactMatch hgnc.symbol:ARSC2 semapv:UnspecifiedMatching OMIM:301780 ARSC2 skos:exactMatch ncbigene:413 semapv:UnspecifiedMatching OMIM:301790 spinocerebellar ataxia, X-linked 3 skos:exactMatch MONDO:0010529 semapv:UnspecifiedMatching +OMIM:301790 spinocerebellar ataxia, X-linked 3 skos:exactMatch hgnc.symbol:SCAX3 semapv:UnspecifiedMatching OMIM:301800 anus, imperforate skos:exactMatch MONDO:0001046 semapv:UnspecifiedMatching OMIM:301815 arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay skos:exactMatch MONDO:0010531 semapv:UnspecifiedMatching OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch MONDO:0010532 semapv:UnspecifiedMatching @@ -25980,6 +26239,7 @@ OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch Orphanet:1145 s OMIM:301830 spinal muscular atrophy, X-linked 2 skos:exactMatch UMLS:C1844934 semapv:UnspecifiedMatching OMIM:301835 arts syndrome skos:exactMatch MONDO:0010533 semapv:UnspecifiedMatching OMIM:301840 spinocerebellar ataxia, X-linked 4 skos:exactMatch MONDO:0010534 semapv:UnspecifiedMatching +OMIM:301840 spinocerebellar ataxia, X-linked 4 skos:exactMatch hgnc.symbol:SCAX4 semapv:UnspecifiedMatching OMIM:301845 bazex-dupre-christol syndrome skos:exactMatch MONDO:0010535 semapv:UnspecifiedMatching OMIM:301850 tubulin, beta skos:exactMatch MONDO:0010536 semapv:UnspecifiedMatching OMIM:301870 BGN skos:exactMatch hgnc.symbol:1044 semapv:UnspecifiedMatching @@ -25991,6 +26251,7 @@ OMIM:301900 borjeson-forssman-lehmann syndrome skos:exactMatch UMLS:C0265339 se OMIM:301940 brachydactyly, mononen type skos:exactMatch MONDO:0010538 semapv:UnspecifiedMatching OMIM:301950 branchial arch syndrome, X-linked skos:exactMatch MONDO:0010539 semapv:UnspecifiedMatching OMIM:302000 bullous dystrophy, hereditary macular type skos:exactMatch MONDO:0010540 semapv:UnspecifiedMatching +OMIM:302000 bullous dystrophy, hereditary macular type skos:exactMatch hgnc.symbol:EBM semapv:UnspecifiedMatching OMIM:302020 S100G skos:exactMatch hgnc.symbol:1436 semapv:UnspecifiedMatching OMIM:302020 S100G skos:exactMatch hgnc.symbol:S100G semapv:UnspecifiedMatching OMIM:302020 S100G skos:exactMatch ncbigene:795 semapv:UnspecifiedMatching @@ -26004,12 +26265,14 @@ OMIM:302350 nance-horan syndrome skos:exactMatch UMLS:C0796085 semapv:Unspecifi OMIM:302400 central incisors, absence of skos:exactMatch MONDO:0010546 semapv:UnspecifiedMatching OMIM:302500 spinocerebellar ataxia, X-linked 1 skos:exactMatch MONDO:0010547 semapv:UnspecifiedMatching OMIM:302600 spinocerebellar ataxia, X-linked 2 skos:exactMatch MONDO:0010548 semapv:UnspecifiedMatching +OMIM:302600 spinocerebellar ataxia, X-linked 2 skos:exactMatch hgnc.symbol:SCAX2 semapv:UnspecifiedMatching OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:1798 semapv:UnspecifiedMatching OMIM:302650 CDR1 skos:exactMatch hgnc.symbol:CDR1 semapv:UnspecifiedMatching OMIM:302650 CDR1 skos:exactMatch ncbigene:1038 semapv:UnspecifiedMatching OMIM:302700 cerebral sclerosis, diffuse, scholz type skos:exactMatch MONDO:0060456 semapv:UnspecifiedMatching OMIM:302800 charcot-marie-tooth disease, X-linked dominant, 1 skos:exactMatch MONDO:0010549 semapv:UnspecifiedMatching OMIM:302801 charcot-marie-tooth disease, X-linked recessive, 2 skos:exactMatch MONDO:0010550 semapv:UnspecifiedMatching +OMIM:302801 charcot-marie-tooth disease, X-linked recessive, 2 skos:exactMatch hgnc.symbol:CMTX2 semapv:UnspecifiedMatching OMIM:302802 charcot-marie-tooth disease, X-linked recessive, 3 skos:exactMatch MONDO:0010551 semapv:UnspecifiedMatching OMIM:302803 charcot-marie-tooth peroneal muscular atrophy, x-linked, with aplasia cutis congenita skos:exactMatch MONDO:0010552 semapv:UnspecifiedMatching OMIM:302900 charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined skos:exactMatch MONDO:0010553 semapv:UnspecifiedMatching @@ -26040,6 +26303,7 @@ OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:4283 semapv:UnspecifiedMatching OMIM:304040 GJB1 skos:exactMatch hgnc.symbol:GJB1 semapv:UnspecifiedMatching OMIM:304040 GJB1 skos:exactMatch ncbigene:2705 semapv:UnspecifiedMatching OMIM:304050 aicardi syndrome skos:exactMatch MONDO:0010568 semapv:UnspecifiedMatching +OMIM:304050 aicardi syndrome skos:exactMatch hgnc.symbol:AIC semapv:UnspecifiedMatching OMIM:304100 corpus callosum, partial agenesis of, X-linked skos:exactMatch MONDO:0010569 semapv:UnspecifiedMatching OMIM:304110 craniofrontonasal syndrome skos:exactMatch MONDO:0010570 semapv:UnspecifiedMatching OMIM:304120 otopalatodigital syndrome, type 2 skos:exactMatch MONDO:0010571 semapv:UnspecifiedMatching @@ -26052,6 +26316,7 @@ OMIM:304400 deafness, X-linked 2 skos:exactMatch MONDO:0010576 semapv:Unspecifi OMIM:304500 deafness, X-linked 1 skos:exactMatch MONDO:0010577 semapv:UnspecifiedMatching OMIM:304700 mohr-tranebjaerg syndrome skos:exactMatch MONDO:0010578 semapv:UnspecifiedMatching OMIM:304730 dermoids of cornea skos:exactMatch MONDO:0010579 semapv:UnspecifiedMatching +OMIM:304730 dermoids of cornea skos:exactMatch hgnc.symbol:CND semapv:UnspecifiedMatching OMIM:304790 immunodysregulation, polyendocrinopathy, and enteropathy, X-linked skos:exactMatch MONDO:0010580 semapv:UnspecifiedMatching OMIM:304800 diabetes insipidus, nephrogenic, 1, X-linked skos:exactMatch MONDO:0010581 semapv:UnspecifiedMatching OMIM:304900 diabetes insipidus, neurohypophyseal, X-linked skos:exactMatch MONDO:0010582 semapv:UnspecifiedMatching @@ -26073,6 +26338,7 @@ OMIM:305400 aarskog-scott syndrome skos:exactMatch MONDO:0010589 semapv:Unspeci OMIM:305423 F8A1 skos:exactMatch hgnc.symbol:3547 semapv:UnspecifiedMatching OMIM:305423 F8A1 skos:exactMatch hgnc.symbol:F8A1 semapv:UnspecifiedMatching OMIM:305423 F8A1 skos:exactMatch ncbigene:8263 semapv:UnspecifiedMatching +OMIM:305435 fetal hemoglobin quantitative trait locus 3 skos:exactMatch hgnc.symbol:FCP1 semapv:UnspecifiedMatching OMIM:305450 opitz-kaveggia syndrome skos:exactMatch MONDO:0010590 semapv:UnspecifiedMatching OMIM:305550 fingerprint body myopathy skos:exactMatch MONDO:0010591 semapv:UnspecifiedMatching OMIM:305600 focal dermal hypoplasia skos:exactMatch MONDO:0010592 semapv:UnspecifiedMatching @@ -26218,6 +26484,7 @@ OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:6012 semapv:UnspecifiedMatching OMIM:308385 IL3RA skos:exactMatch hgnc.symbol:IL3RA semapv:UnspecifiedMatching OMIM:308385 IL3RA skos:exactMatch ncbigene:3563 semapv:UnspecifiedMatching OMIM:308500 iris hypoplasia with glaucoma skos:exactMatch MONDO:0010633 semapv:UnspecifiedMatching +OMIM:308500 iris hypoplasia with glaucoma skos:exactMatch hgnc.symbol:IHG1 semapv:UnspecifiedMatching OMIM:308600 jaundice, familial obstructive, of infancy skos:exactMatch MONDO:0010634 semapv:UnspecifiedMatching OMIM:308700 hypogonadotropic hypogonadism 1 with or without anosmia skos:exactMatch MONDO:0010635 semapv:UnspecifiedMatching OMIM:308750 kallmann syndrome with spastic paraplegia skos:exactMatch MONDO:0010636 semapv:UnspecifiedMatching @@ -26237,12 +26504,14 @@ OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch MONDO:0010645 semap OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch Orphanet:534 semapv:UnspecifiedMatching OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C0028860 semapv:UnspecifiedMatching OMIM:309000 lowe oculocerebrorenal syndrome skos:exactMatch UMLS:C2713392 semapv:UnspecifiedMatching +OMIM:309050 lutheran suppressor, X-linked skos:exactMatch hgnc.symbol:XS semapv:UnspecifiedMatching OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:6501 semapv:UnspecifiedMatching OMIM:309060 LAMP2 skos:exactMatch hgnc.symbol:LAMP2 semapv:UnspecifiedMatching OMIM:309060 LAMP2 skos:exactMatch ncbigene:3920 semapv:UnspecifiedMatching OMIM:309100 macular dystrophy, X-linked skos:exactMatch MONDO:0010646 semapv:UnspecifiedMatching OMIM:309120 spermatogenic failure, x-linked, 2 skos:exactMatch MONDO:0010647 semapv:UnspecifiedMatching OMIM:309200 major affective disorder 2 skos:exactMatch MONDO:0010648 semapv:UnspecifiedMatching +OMIM:309200 major affective disorder 2 skos:exactMatch hgnc.symbol:MAFD2 semapv:UnspecifiedMatching OMIM:309300 megalocornea skos:exactMatch MONDO:0010649 semapv:UnspecifiedMatching OMIM:309350 melnick-needles syndrome skos:exactMatch MONDO:0010650 semapv:UnspecifiedMatching OMIM:309400 menkes disease skos:exactMatch MONDO:0010651 semapv:UnspecifiedMatching @@ -26259,6 +26528,7 @@ OMIM:309520 intellectual developmental disorder, x-linked, syndromic, lujan-fryn OMIM:309530 intellectual developmental disorder, X-linked 1 skos:exactMatch MONDO:0010656 semapv:UnspecifiedMatching OMIM:309541 methylmalonic aciduria and homocystinuria, cblx type skos:exactMatch MONDO:0010657 semapv:UnspecifiedMatching OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 skos:exactMatch MONDO:0010658 semapv:UnspecifiedMatching +OMIM:309545 intellectual developmental disorder, x-linked, syndromic 12 skos:exactMatch hgnc.symbol:MRXS12 semapv:UnspecifiedMatching OMIM:309548 intellectual developmental disorder, X-linked 109 skos:exactMatch MONDO:0010659 semapv:UnspecifiedMatching OMIM:309549 intellectual developmental disorder, X-linked 9 skos:exactMatch MONDO:0010660 semapv:UnspecifiedMatching OMIM:309550 FMR1 skos:exactMatch hgnc.symbol:3775 semapv:UnspecifiedMatching @@ -26278,6 +26548,7 @@ OMIM:309590 intellectual developmental disorder, x-linked, syndromic, turner typ OMIM:309605 skos:exactMatch MONDO:0010666 semapv:UnspecifiedMatching OMIM:309610 prieto syndrome skos:exactMatch MONDO:0010667 semapv:UnspecifiedMatching OMIM:309620 christian syndrome skos:exactMatch MONDO:0010668 semapv:UnspecifiedMatching +OMIM:309620 christian syndrome skos:exactMatch hgnc.symbol:MRSD semapv:UnspecifiedMatching OMIM:309630 metacarpal 4-5 fusion skos:exactMatch MONDO:0010669 semapv:UnspecifiedMatching OMIM:309640 mental retardation with spastic paraplegia skos:exactMatch MONDO:0010670 semapv:UnspecifiedMatching OMIM:309800 microphthalmia, syndromic 1 skos:exactMatch MONDO:0010671 semapv:UnspecifiedMatching @@ -26312,6 +26583,7 @@ OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch MONDO:0 OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch Orphanet:25980 semapv:UnspecifiedMatching OMIM:310440 myopathy, x-linked, with excessive autophagy skos:exactMatch UMLS:C1839615 semapv:UnspecifiedMatching OMIM:310460 myopia 1, X-linked skos:exactMatch MONDO:0010685 semapv:UnspecifiedMatching +OMIM:310460 myopia 1, X-linked skos:exactMatch hgnc.symbol:MYP1 semapv:UnspecifiedMatching OMIM:310465 n syndrome skos:exactMatch MONDO:0010686 semapv:UnspecifiedMatching OMIM:310468 nephrolithiasis, X-linked recessive, with renal failure skos:exactMatch MONDO:0010687 semapv:UnspecifiedMatching OMIM:310470 neuropathy, hereditary sensory, X-linked skos:exactMatch MONDO:0010688 semapv:UnspecifiedMatching @@ -26326,6 +26598,7 @@ OMIM:310800 nystagmus, myoclonic skos:exactMatch MONDO:0010694 semapv:Unspecifi OMIM:310900 occipital hair, white lock of skos:exactMatch MONDO:0010695 semapv:UnspecifiedMatching OMIM:310980 omphalocele, X-linked skos:exactMatch MONDO:0010696 semapv:UnspecifiedMatching OMIM:311000 ophthalmoplegia, external, and myopia skos:exactMatch MONDO:0010697 semapv:UnspecifiedMatching +OMIM:311000 ophthalmoplegia, external, and myopia skos:exactMatch hgnc.symbol:OPEM semapv:UnspecifiedMatching OMIM:311010 ARAF skos:exactMatch hgnc.symbol:646 semapv:UnspecifiedMatching OMIM:311010 ARAF skos:exactMatch hgnc.symbol:ARAF semapv:UnspecifiedMatching OMIM:311010 ARAF skos:exactMatch ncbigene:369 semapv:UnspecifiedMatching @@ -26336,6 +26609,7 @@ OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:3321 semapv:UnspecifiedMatching OMIM:311040 ELK1 skos:exactMatch hgnc.symbol:ELK1 semapv:UnspecifiedMatching OMIM:311040 ELK1 skos:exactMatch ncbigene:2002 semapv:UnspecifiedMatching OMIM:311050 optic atrophy 2 skos:exactMatch MONDO:0010698 semapv:UnspecifiedMatching +OMIM:311050 optic atrophy 2 skos:exactMatch hgnc.symbol:OPA2 semapv:UnspecifiedMatching OMIM:311070 charcot-marie-tooth disease, X-linked recessive, 5 skos:exactMatch MONDO:0010699 semapv:UnspecifiedMatching OMIM:311100 optic atrophy--spastic paraplegia syndrome skos:exactMatch MONDO:0010700 semapv:UnspecifiedMatching OMIM:311200 orofaciodigital syndrome 1 skos:exactMatch MONDO:0010702 semapv:UnspecifiedMatching @@ -26353,6 +26627,7 @@ OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C0085215 semapv:Un OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C3494522 semapv:UnspecifiedMatching OMIM:311360 premature ovarian failure 1 skos:exactMatch UMLS:C4552079 semapv:UnspecifiedMatching OMIM:311400 paine syndrome skos:exactMatch MONDO:0010707 semapv:UnspecifiedMatching +OMIM:311400 paine syndrome skos:exactMatch hgnc.symbol:MSD semapv:UnspecifiedMatching OMIM:311450 pallister w syndrome skos:exactMatch MONDO:0010708 semapv:UnspecifiedMatching OMIM:311510 waisman syndrome skos:exactMatch MONDO:0010709 semapv:UnspecifiedMatching OMIM:311550 CDK16 skos:exactMatch hgnc.symbol:8749 semapv:UnspecifiedMatching @@ -26425,11 +26700,13 @@ OMIM:312420 RENBP skos:exactMatch hgnc.symbol:RENBP semapv:UnspecifiedMatching OMIM:312420 RENBP skos:exactMatch ncbigene:5973 semapv:UnspecifiedMatching OMIM:312500 reticuloendotheliosis, X-linked skos:exactMatch MONDO:0010721 semapv:UnspecifiedMatching OMIM:312550 retinal dysplasia, primary skos:exactMatch MONDO:0010722 semapv:UnspecifiedMatching +OMIM:312550 retinal dysplasia, primary skos:exactMatch hgnc.symbol:PRD semapv:UnspecifiedMatching OMIM:312600 retinitis pigmentosa 2 skos:exactMatch MONDO:0010723 semapv:UnspecifiedMatching OMIM:312610 RPGR skos:exactMatch hgnc.symbol:10295 semapv:UnspecifiedMatching OMIM:312610 RPGR skos:exactMatch hgnc.symbol:RPGR semapv:UnspecifiedMatching OMIM:312610 RPGR skos:exactMatch ncbigene:6103 semapv:UnspecifiedMatching OMIM:312612 retinitis pigmentosa 6 skos:exactMatch MONDO:0000910 semapv:UnspecifiedMatching +OMIM:312612 retinitis pigmentosa 6 skos:exactMatch hgnc.symbol:RP6 semapv:UnspecifiedMatching OMIM:312700 retinoschisis 1, x-linked, juvenile skos:exactMatch MONDO:0010725 semapv:UnspecifiedMatching OMIM:312750 rett syndrome skos:exactMatch MONDO:0010726 semapv:UnspecifiedMatching OMIM:312750 rett syndrome skos:exactMatch Orphanet:3095 semapv:UnspecifiedMatching @@ -26457,11 +26734,13 @@ OMIM:312870 simpson-golabi-behmel syndrome, type 1 skos:exactMatch UMLS:C0796154 OMIM:312910 spastic paraparesis and deafness skos:exactMatch MONDO:0010732 semapv:UnspecifiedMatching OMIM:312920 spastic paraplegia 2, X-linked skos:exactMatch MONDO:0010733 semapv:UnspecifiedMatching OMIM:313000 spatial visualization, aptitude for skos:exactMatch MONDO:0010734 semapv:UnspecifiedMatching +OMIM:313000 spatial visualization, aptitude for skos:exactMatch hgnc.symbol:VSPA semapv:UnspecifiedMatching OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:10540 semapv:UnspecifiedMatching OMIM:313020 SAT1 skos:exactMatch hgnc.symbol:SAT1 semapv:UnspecifiedMatching OMIM:313020 SAT1 skos:exactMatch ncbigene:6303 semapv:UnspecifiedMatching OMIM:313200 spinal and bulbar muscular atrophy, X-linked 1 skos:exactMatch MONDO:0010735 semapv:UnspecifiedMatching OMIM:313350 split-hand/foot malformation 2 skos:exactMatch MONDO:0010736 semapv:UnspecifiedMatching +OMIM:313350 split-hand/foot malformation 2 skos:exactMatch hgnc.symbol:SHFM2 semapv:UnspecifiedMatching OMIM:313400 spondyloepiphyseal dysplasia tarda, X-linked skos:exactMatch MONDO:0010737 semapv:UnspecifiedMatching OMIM:313420 spondylometaphyseal dysplasia, X-linked skos:exactMatch MONDO:0010738 semapv:UnspecifiedMatching OMIM:313430 SOX3 skos:exactMatch hgnc.symbol:11199 semapv:UnspecifiedMatching @@ -26486,6 +26765,7 @@ OMIM:313700 AR skos:exactMatch hgnc.symbol:644 semapv:UnspecifiedMatching OMIM:313700 AR skos:exactMatch hgnc.symbol:AR semapv:UnspecifiedMatching OMIM:313700 AR skos:exactMatch ncbigene:367 semapv:UnspecifiedMatching OMIM:313850 thoracoabdominal syndrome skos:exactMatch MONDO:0010742 semapv:UnspecifiedMatching +OMIM:313850 thoracoabdominal syndrome skos:exactMatch hgnc.symbol:THAS semapv:UnspecifiedMatching OMIM:313900 thrombocytopenia 1 skos:exactMatch MONDO:0010743 semapv:UnspecifiedMatching OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:268322 semapv:UnspecifiedMatching OMIM:313900 thrombocytopenia 1 skos:exactMatch Orphanet:852 semapv:UnspecifiedMatching @@ -26499,6 +26779,7 @@ OMIM:314200 TBG skos:exactMatch ncbigene:6906 semapv:UnspecifiedMatching OMIM:314240 tooth size skos:exactMatch MONDO:0044265 semapv:UnspecifiedMatching OMIM:314250 dystonia 3, torsion, X-linked skos:exactMatch MONDO:0010747 semapv:UnspecifiedMatching OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia skos:exactMatch MONDO:0010748 semapv:UnspecifiedMatching +OMIM:314300 torticollis, keloids, cryptorchidism, and renal dysplasia skos:exactMatch hgnc.symbol:TKCR semapv:UnspecifiedMatching OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:11752 semapv:UnspecifiedMatching OMIM:314310 TFE3 skos:exactMatch hgnc.symbol:TFE3 semapv:UnspecifiedMatching OMIM:314310 TFE3 skos:exactMatch ncbigene:7030 semapv:UnspecifiedMatching @@ -26543,6 +26824,7 @@ OMIM:314800 xh antigen skos:exactMatch MONDO:0010760 semapv:UnspecifiedMatching OMIM:314850 XK skos:exactMatch hgnc.symbol:12811 semapv:UnspecifiedMatching OMIM:314850 XK skos:exactMatch hgnc.symbol:XK semapv:UnspecifiedMatching OMIM:314850 XK skos:exactMatch ncbigene:7504 semapv:UnspecifiedMatching +OMIM:314900 xm system skos:exactMatch hgnc.symbol:XM semapv:UnspecifiedMatching OMIM:314980 ZFX skos:exactMatch hgnc.symbol:12869 semapv:UnspecifiedMatching OMIM:314980 ZFX skos:exactMatch hgnc.symbol:ZFX semapv:UnspecifiedMatching OMIM:314980 ZFX skos:exactMatch ncbigene:7543 semapv:UnspecifiedMatching @@ -26565,6 +26847,7 @@ OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:2682 semapv:UnspecifiedMatching OMIM:400003 DAZ1 skos:exactMatch hgnc.symbol:DAZ1 semapv:UnspecifiedMatching OMIM:400003 DAZ1 skos:exactMatch ncbigene:1617 semapv:UnspecifiedMatching OMIM:400004 retinitis pigmentosa, Y-linked skos:exactMatch MONDO:0010761 semapv:UnspecifiedMatching +OMIM:400004 retinitis pigmentosa, Y-linked skos:exactMatch hgnc.symbol:RPY semapv:UnspecifiedMatching OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:12633 semapv:UnspecifiedMatching OMIM:400005 USP9Y skos:exactMatch hgnc.symbol:USP9Y semapv:UnspecifiedMatching OMIM:400005 USP9Y skos:exactMatch ncbigene:8287 semapv:UnspecifiedMatching @@ -26671,6 +26954,7 @@ OMIM:400041 PRY2 skos:exactMatch hgnc.symbol:PRY2 semapv:UnspecifiedMatching OMIM:400041 PRY2 skos:exactMatch ncbigene:442862 semapv:UnspecifiedMatching OMIM:400042 spermatogenic failure, y-linked, 1 skos:exactMatch MONDO:0010763 semapv:UnspecifiedMatching OMIM:400043 deafness, Y-linked 1 skos:exactMatch MONDO:0010764 semapv:UnspecifiedMatching +OMIM:400043 deafness, Y-linked 1 skos:exactMatch hgnc.symbol:DFNY1 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch MONDO:0020712 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch Orphanet:242 semapv:UnspecifiedMatching OMIM:400044 46,xy sex reversal 1 skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching @@ -26702,6 +26986,7 @@ OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:2435 semapv:UnspecifiedMatching OMIM:425000 CSF2RY skos:exactMatch hgnc.symbol:CSF2RA semapv:UnspecifiedMatching OMIM:425000 CSF2RY skos:exactMatch ncbigene:1438 semapv:UnspecifiedMatching OMIM:425500 hairy ears, Y-linked skos:exactMatch MONDO:0010769 semapv:UnspecifiedMatching +OMIM:425500 hairy ears, Y-linked skos:exactMatch hgnc.symbol:HEY semapv:UnspecifiedMatching OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:11115 semapv:UnspecifiedMatching OMIM:426000 KDM5D skos:exactMatch hgnc.symbol:KDM5D semapv:UnspecifiedMatching OMIM:426000 KDM5D skos:exactMatch ncbigene:8284 semapv:UnspecifiedMatching @@ -26717,6 +27002,7 @@ OMIM:465000 AKAP17A skos:exactMatch ncbigene:8227 semapv:UnspecifiedMatching OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:10425 semapv:UnspecifiedMatching OMIM:470000 RPS4Y1 skos:exactMatch hgnc.symbol:RPS4Y1 semapv:UnspecifiedMatching OMIM:470000 RPS4Y1 skos:exactMatch ncbigene:6192 semapv:UnspecifiedMatching +OMIM:475000 growth control, y-chromosome influenced skos:exactMatch hgnc.symbol:GCY semapv:UnspecifiedMatching OMIM:480000 SRY skos:exactMatch UMLS:C1420418 semapv:UnspecifiedMatching OMIM:480000 SRY skos:exactMatch UMLS:C2697358 semapv:UnspecifiedMatching OMIM:480000 SRY skos:exactMatch UMLS:C2748896 semapv:UnspecifiedMatching @@ -27121,6 +27407,7 @@ OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:12422 semapv:UnspecifiedMatching OMIM:600087 TUFT1 skos:exactMatch hgnc.symbol:TUFT1 semapv:UnspecifiedMatching OMIM:600087 TUFT1 skos:exactMatch ncbigene:7286 semapv:UnspecifiedMatching OMIM:600089 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch MONDO:0010813 semapv:UnspecifiedMatching +OMIM:600089 pancreatic beta cell agenesis with neonatal diabetes mellitus skos:exactMatch hgnc.symbol:PBCA semapv:UnspecifiedMatching OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch MONDO:0010814 semapv:UnspecifiedMatching OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch Orphanet:1422 semapv:UnspecifiedMatching OMIM:600092 nivelon-nivelon-mabille syndrome skos:exactMatch UMLS:C1838654 semapv:UnspecifiedMatching @@ -27197,6 +27484,7 @@ OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:604 semapv:UnspecifiedMatching OMIM:600130 APOBEC1 skos:exactMatch hgnc.symbol:APOBEC1 semapv:UnspecifiedMatching OMIM:600130 APOBEC1 skos:exactMatch ncbigene:339 semapv:UnspecifiedMatching OMIM:600131 epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch MONDO:0020759 semapv:UnspecifiedMatching +OMIM:600131 epilepsy, childhood absence, susceptibility to, 1 skos:exactMatch hgnc.symbol:ECA1 semapv:UnspecifiedMatching OMIM:600132 retinitis pigmentosa 14 skos:exactMatch MONDO:0010827 semapv:UnspecifiedMatching OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:6484 semapv:UnspecifiedMatching OMIM:600133 LAMA4 skos:exactMatch hgnc.symbol:LAMA4 semapv:UnspecifiedMatching @@ -27261,6 +27549,7 @@ OMIM:600154 PIGH skos:exactMatch hgnc.symbol:PIGH semapv:UnspecifiedMatching OMIM:600154 PIGH skos:exactMatch ncbigene:5283 semapv:UnspecifiedMatching OMIM:600155 hirschsprung disease, susceptibility to, 2 skos:exactMatch MONDO:0010833 semapv:UnspecifiedMatching OMIM:600156 hirschsprung disease, susceptibility to, 5 skos:exactMatch MONDO:0010834 semapv:UnspecifiedMatching +OMIM:600156 hirschsprung disease, susceptibility to, 5 skos:exactMatch hgnc.symbol:HSCR5 semapv:UnspecifiedMatching OMIM:600157 AP1B1 skos:exactMatch UMLS:C1275089 semapv:UnspecifiedMatching OMIM:600157 AP1B1 skos:exactMatch UMLS:C1412434 semapv:UnspecifiedMatching OMIM:600157 AP1B1 skos:exactMatch hgnc.symbol:554 semapv:UnspecifiedMatching @@ -27300,6 +27589,7 @@ OMIM:600164 GEM skos:exactMatch hgnc.symbol:4234 semapv:UnspecifiedMatching OMIM:600164 GEM skos:exactMatch hgnc.symbol:GEM semapv:UnspecifiedMatching OMIM:600164 GEM skos:exactMatch ncbigene:2669 semapv:UnspecifiedMatching OMIM:600165 nanophthalmos 1 skos:exactMatch MONDO:0010836 semapv:UnspecifiedMatching +OMIM:600165 nanophthalmos 1 skos:exactMatch hgnc.symbol:NNO1 semapv:UnspecifiedMatching OMIM:600166 hyperparathyroidism, primary, caused by water clear cell hyperplasia skos:exactMatch MONDO:0044350 semapv:UnspecifiedMatching OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:5182 semapv:UnspecifiedMatching OMIM:600167 HRH1 skos:exactMatch hgnc.symbol:HRH1 semapv:UnspecifiedMatching @@ -27376,6 +27666,7 @@ OMIM:600192 SS18 skos:exactMatch hgnc.symbol:11340 semapv:UnspecifiedMatching OMIM:600192 SS18 skos:exactMatch hgnc.symbol:SS18 semapv:UnspecifiedMatching OMIM:600192 SS18 skos:exactMatch ncbigene:6760 semapv:UnspecifiedMatching OMIM:600193 waardenburg syndrome, type 2b skos:exactMatch MONDO:0010841 semapv:UnspecifiedMatching +OMIM:600193 waardenburg syndrome, type 2b skos:exactMatch hgnc.symbol:WS2B semapv:UnspecifiedMatching OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:6439 semapv:UnspecifiedMatching OMIM:600194 KRT2 skos:exactMatch hgnc.symbol:KRT2 semapv:UnspecifiedMatching OMIM:600194 KRT2 skos:exactMatch ncbigene:3849 semapv:UnspecifiedMatching @@ -27399,6 +27690,7 @@ OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:5145 semapv:UnspecifiedMatching OMIM:600207 HPCAL1 skos:exactMatch hgnc.symbol:HPCAL1 semapv:UnspecifiedMatching OMIM:600207 HPCAL1 skos:exactMatch ncbigene:3241 semapv:UnspecifiedMatching OMIM:600209 exostoses, multiple, type 3 skos:exactMatch MONDO:0010846 semapv:UnspecifiedMatching +OMIM:600209 exostoses, multiple, type 3 skos:exactMatch hgnc.symbol:EXT3 semapv:UnspecifiedMatching OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:10473 semapv:UnspecifiedMatching OMIM:600210 RUNX3 skos:exactMatch hgnc.symbol:RUNX3 semapv:UnspecifiedMatching OMIM:600210 RUNX3 skos:exactMatch ncbigene:864 semapv:UnspecifiedMatching @@ -27704,12 +27996,15 @@ OMIM:600317 TPM4 skos:exactMatch hgnc.symbol:TPM4 semapv:UnspecifiedMatching OMIM:600317 TPM4 skos:exactMatch ncbigene:7171 semapv:UnspecifiedMatching OMIM:600318 type 1 diabetes mellitus 3 skos:exactMatch MONDO:0010861 semapv:UnspecifiedMatching OMIM:600318 type 1 diabetes mellitus 3 skos:exactMatch UMLS:C1838262 semapv:UnspecifiedMatching +OMIM:600318 type 1 diabetes mellitus 3 skos:exactMatch hgnc.symbol:IDDM3 semapv:UnspecifiedMatching OMIM:600319 type 1 diabetes mellitus 4 skos:exactMatch MONDO:0010862 semapv:UnspecifiedMatching OMIM:600319 type 1 diabetes mellitus 4 skos:exactMatch UMLS:C1838261 semapv:UnspecifiedMatching +OMIM:600319 type 1 diabetes mellitus 4 skos:exactMatch hgnc.symbol:IDDM4 semapv:UnspecifiedMatching OMIM:600320 type 1 diabetes mellitus 5 skos:exactMatch MONDO:0010863 semapv:UnspecifiedMatching OMIM:600320 type 1 diabetes mellitus 5 skos:exactMatch UMLS:C1838260 semapv:UnspecifiedMatching OMIM:600321 type 1 diabetes mellitus 7 skos:exactMatch MONDO:0010864 semapv:UnspecifiedMatching OMIM:600321 type 1 diabetes mellitus 7 skos:exactMatch UMLS:C1838259 semapv:UnspecifiedMatching +OMIM:600321 type 1 diabetes mellitus 7 skos:exactMatch hgnc.symbol:IDDM7 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch UMLS:C1420270 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch UMLS:C4225364 semapv:UnspecifiedMatching OMIM:600322 SNAP25 skos:exactMatch hgnc.symbol:11132 semapv:UnspecifiedMatching @@ -27737,6 +28032,7 @@ OMIM:600328 MLLT6 skos:exactMatch ncbigene:4302 semapv:UnspecifiedMatching OMIM:600329 osteopetrosis and infantile neuroaxonal dystrophy skos:exactMatch MONDO:0010866 semapv:UnspecifiedMatching OMIM:600331 parc syndrome skos:exactMatch MONDO:0010867 semapv:UnspecifiedMatching OMIM:600332 rippling muscle disease 1 skos:exactMatch MONDO:0010868 semapv:UnspecifiedMatching +OMIM:600332 rippling muscle disease 1 skos:exactMatch hgnc.symbol:RMD1 semapv:UnspecifiedMatching OMIM:600333 motor neuron disease with dementia and ophthalmoplegia skos:exactMatch MONDO:0010869 semapv:UnspecifiedMatching OMIM:600334 tibial muscular dystrophy, tardive skos:exactMatch MONDO:0010870 semapv:UnspecifiedMatching OMIM:600335 succinic acidemia skos:exactMatch MONDO:0010871 semapv:UnspecifiedMatching @@ -27797,6 +28093,7 @@ OMIM:600359 KCNJ1 skos:exactMatch hgnc.symbol:KCNJ1 semapv:UnspecifiedMatching OMIM:600359 KCNJ1 skos:exactMatch ncbigene:3758 semapv:UnspecifiedMatching OMIM:600360 aplasia cutis congenita of limbs, autosomal recessive skos:exactMatch MONDO:0010876 semapv:UnspecifiedMatching OMIM:600361 hereditary motor and sensory neuropathy 5 skos:exactMatch MONDO:0010877 semapv:UnspecifiedMatching +OMIM:600361 hereditary motor and sensory neuropathy 5 skos:exactMatch hgnc.symbol:HMSN5 semapv:UnspecifiedMatching OMIM:600362 FLII skos:exactMatch UMLS:C1414634 semapv:UnspecifiedMatching OMIM:600362 FLII skos:exactMatch hgnc.symbol:3750 semapv:UnspecifiedMatching OMIM:600362 FLII skos:exactMatch hgnc.symbol:FLII semapv:UnspecifiedMatching @@ -28086,6 +28383,7 @@ OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:410 semapv:UnspecifiedMatching OMIM:600466 ALDH3B1 skos:exactMatch hgnc.symbol:ALDH3B1 semapv:UnspecifiedMatching OMIM:600466 ALDH3B1 skos:exactMatch ncbigene:221 semapv:UnspecifiedMatching OMIM:600467 malignant hyperthermia, susceptibility to, 4 skos:exactMatch MONDO:0010893 semapv:UnspecifiedMatching +OMIM:600467 malignant hyperthermia, susceptibility to, 4 skos:exactMatch hgnc.symbol:MHS4 semapv:UnspecifiedMatching OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:7658 semapv:UnspecifiedMatching OMIM:600469 NCBP1 skos:exactMatch hgnc.symbol:NCBP1 semapv:UnspecifiedMatching OMIM:600469 NCBP1 skos:exactMatch ncbigene:4686 semapv:UnspecifiedMatching @@ -28187,7 +28485,9 @@ OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:59 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch hgnc.symbol:ABCC8 semapv:UnspecifiedMatching OMIM:600509 ABCC8 skos:exactMatch ncbigene:6833 semapv:UnspecifiedMatching OMIM:600510 ocular pigment dispersion with or without glaucoma skos:exactMatch MONDO:0010896 semapv:UnspecifiedMatching +OMIM:600510 ocular pigment dispersion with or without glaucoma skos:exactMatch hgnc.symbol:GPDS1 semapv:UnspecifiedMatching OMIM:600511 schizophrenia 3 skos:exactMatch MONDO:0010897 semapv:UnspecifiedMatching +OMIM:600511 schizophrenia 3 skos:exactMatch hgnc.symbol:SCZD3 semapv:UnspecifiedMatching OMIM:600512 epilepsy, familial temporal lobe, 1 skos:exactMatch MONDO:0700090 semapv:UnspecifiedMatching OMIM:600513 epilepsy, nocturnal frontal lobe, 1 skos:exactMatch MONDO:0010899 semapv:UnspecifiedMatching OMIM:600514 RELN skos:exactMatch hgnc.symbol:9957 semapv:UnspecifiedMatching @@ -28439,6 +28739,7 @@ OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:6950 semapv:UnspecifiedMatching OMIM:600592 MCM7 skos:exactMatch hgnc.symbol:MCM7 semapv:UnspecifiedMatching OMIM:600592 MCM7 skos:exactMatch ncbigene:4176 semapv:UnspecifiedMatching OMIM:600593 craniosynostosis, adelaide type skos:exactMatch MONDO:0010903 semapv:UnspecifiedMatching +OMIM:600593 craniosynostosis, adelaide type skos:exactMatch hgnc.symbol:CRSA semapv:UnspecifiedMatching OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:2845 semapv:UnspecifiedMatching OMIM:600594 DGCR2 skos:exactMatch hgnc.symbol:DGCR2 semapv:UnspecifiedMatching OMIM:600594 DGCR2 skos:exactMatch ncbigene:9993 semapv:UnspecifiedMatching @@ -28508,6 +28809,7 @@ OMIM:600623 CD82 skos:exactMatch hgnc.symbol:6210 semapv:UnspecifiedMatching OMIM:600623 CD82 skos:exactMatch hgnc.symbol:CD82 semapv:UnspecifiedMatching OMIM:600623 CD82 skos:exactMatch ncbigene:3732 semapv:UnspecifiedMatching OMIM:600624 cone-rod dystrophy 1 skos:exactMatch MONDO:0010905 semapv:UnspecifiedMatching +OMIM:600624 cone-rod dystrophy 1 skos:exactMatch hgnc.symbol:CORD1 semapv:UnspecifiedMatching OMIM:600625 orofacial cleft 11 skos:exactMatch MONDO:0010906 semapv:UnspecifiedMatching OMIM:600625 orofacial cleft 11 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:600625 orofacial cleft 11 skos:exactMatch UMLS:C1833563 semapv:UnspecifiedMatching @@ -28522,6 +28824,7 @@ OMIM:600629 HLA-DOB skos:exactMatch hgnc.symbol:HLA-DOB semapv:UnspecifiedMatch OMIM:600629 HLA-DOB skos:exactMatch ncbigene:3112 semapv:UnspecifiedMatching OMIM:600630 uv-sensitive syndrome 1 skos:exactMatch MONDO:0010909 semapv:UnspecifiedMatching OMIM:600631 enuresis, nocturnal, 1 skos:exactMatch MONDO:0010910 semapv:UnspecifiedMatching +OMIM:600631 enuresis, nocturnal, 1 skos:exactMatch hgnc.symbol:ENUR1 semapv:UnspecifiedMatching OMIM:600632 OPCML skos:exactMatch hgnc.symbol:8143 semapv:UnspecifiedMatching OMIM:600632 OPCML skos:exactMatch hgnc.symbol:OPCML semapv:UnspecifiedMatching OMIM:600632 OPCML skos:exactMatch ncbigene:4978 semapv:UnspecifiedMatching @@ -28603,7 +28906,9 @@ OMIM:600667 FZD2 skos:exactMatch ncbigene:2535 semapv:UnspecifiedMatching OMIM:600668 chondrocalcinosis 1 skos:exactMatch MONDO:0010917 semapv:UnspecifiedMatching OMIM:600668 chondrocalcinosis 1 skos:exactMatch Orphanet:1416 semapv:UnspecifiedMatching OMIM:600668 chondrocalcinosis 1 skos:exactMatch UMLS:C1833499 semapv:UnspecifiedMatching +OMIM:600668 chondrocalcinosis 1 skos:exactMatch hgnc.symbol:CCAL1 semapv:UnspecifiedMatching OMIM:600669 epilepsy, idiopathic generalized skos:exactMatch MONDO:0005579 semapv:UnspecifiedMatching +OMIM:600669 epilepsy, idiopathic generalized skos:exactMatch hgnc.symbol:EGI semapv:UnspecifiedMatching OMIM:600670 varicella, severe recurrent skos:exactMatch MONDO:0010919 semapv:UnspecifiedMatching OMIM:600673 UBTF skos:exactMatch hgnc.symbol:12511 semapv:UnspecifiedMatching OMIM:600673 UBTF skos:exactMatch hgnc.symbol:UBTF semapv:UnspecifiedMatching @@ -28832,6 +29137,7 @@ OMIM:600756 PTPA skos:exactMatch hgnc.symbol:9308 semapv:UnspecifiedMatching OMIM:600756 PTPA skos:exactMatch hgnc.symbol:PTPA semapv:UnspecifiedMatching OMIM:600756 PTPA skos:exactMatch ncbigene:5524 semapv:UnspecifiedMatching OMIM:600757 orofacial cleft 3 skos:exactMatch MONDO:0010927 semapv:UnspecifiedMatching +OMIM:600757 orofacial cleft 3 skos:exactMatch hgnc.symbol:OFC3 semapv:UnspecifiedMatching OMIM:600758 PTK2 skos:exactMatch hgnc.symbol:9611 semapv:UnspecifiedMatching OMIM:600758 PTK2 skos:exactMatch hgnc.symbol:PTK2 semapv:UnspecifiedMatching OMIM:600758 PTK2 skos:exactMatch ncbigene:5747 semapv:UnspecifiedMatching @@ -28921,6 +29227,7 @@ OMIM:600789 RPL23L skos:exactMatch ncbigene:6150 semapv:UnspecifiedMatching OMIM:600790 chorioretinal atrophy, progressive bifocal skos:exactMatch MONDO:0010932 semapv:UnspecifiedMatching OMIM:600791 deafness, autosomal recessive 4, with enlarged vestibular aqueduct skos:exactMatch MONDO:0010933 semapv:UnspecifiedMatching OMIM:600792 deafness, autosomal recessive 5 skos:exactMatch MONDO:0000912 semapv:UnspecifiedMatching +OMIM:600792 deafness, autosomal recessive 5 skos:exactMatch hgnc.symbol:DFNB5 semapv:UnspecifiedMatching OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch MONDO:0015353 semapv:UnspecifiedMatching OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch Orphanet:139536 semapv:UnspecifiedMatching OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 skos:exactMatch UMLS:C1833308 semapv:UnspecifiedMatching @@ -28957,6 +29264,7 @@ OMIM:600806 CNN1 skos:exactMatch hgnc.symbol:CNN1 semapv:UnspecifiedMatching OMIM:600806 CNN1 skos:exactMatch ncbigene:1264 semapv:UnspecifiedMatching OMIM:600807 asthma, susceptibility to skos:exactMatch MONDO:0010940 semapv:UnspecifiedMatching OMIM:600808 enuresis, nocturnal, 2 skos:exactMatch MONDO:0010941 semapv:UnspecifiedMatching +OMIM:600808 enuresis, nocturnal, 2 skos:exactMatch hgnc.symbol:ENUR2 semapv:UnspecifiedMatching OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:9059 semapv:UnspecifiedMatching OMIM:600810 PLCB4 skos:exactMatch hgnc.symbol:PLCB4 semapv:UnspecifiedMatching OMIM:600810 PLCB4 skos:exactMatch ncbigene:5332 semapv:UnspecifiedMatching @@ -29183,7 +29491,9 @@ OMIM:600881 cataract 10, multiple types skos:exactMatch UMLS:C1833229 semapv:Un OMIM:600882 charcot-marie-tooth disease, axonal, type 2b skos:exactMatch MONDO:0010949 semapv:UnspecifiedMatching OMIM:600883 type 1 diabetes mellitus 8 skos:exactMatch MONDO:0010950 semapv:UnspecifiedMatching OMIM:600883 type 1 diabetes mellitus 8 skos:exactMatch UMLS:C1833218 semapv:UnspecifiedMatching +OMIM:600883 type 1 diabetes mellitus 8 skos:exactMatch hgnc.symbol:IDDM8 semapv:UnspecifiedMatching OMIM:600884 cardiomyopathy, dilated, 1b skos:exactMatch MONDO:0010951 semapv:UnspecifiedMatching +OMIM:600884 cardiomyopathy, dilated, 1b skos:exactMatch hgnc.symbol:CMD1B semapv:UnspecifiedMatching OMIM:600886 hyperferritinemia with or without cataract skos:exactMatch MONDO:0010952 semapv:UnspecifiedMatching OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:7326 semapv:UnspecifiedMatching OMIM:600887 MSH3 skos:exactMatch hgnc.symbol:MSH3 semapv:UnspecifiedMatching @@ -29419,6 +29729,7 @@ OMIM:600971 deafness, autosomal recessive 6 skos:exactMatch MONDO:0010965 semap OMIM:600972 achondrogenesis, type 1b skos:exactMatch MONDO:0010966 semapv:UnspecifiedMatching OMIM:600974 deafness, autosomal recessive 7 skos:exactMatch MONDO:0010967 semapv:UnspecifiedMatching OMIM:600975 glaucoma 3, primary infantile, B skos:exactMatch MONDO:0010968 semapv:UnspecifiedMatching +OMIM:600975 glaucoma 3, primary infantile, B skos:exactMatch hgnc.symbol:GLC3B semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch UMLS:C0812278 semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch UMLS:C2986382 semapv:UnspecifiedMatching OMIM:600976 FAT1 skos:exactMatch hgnc.symbol:3595 semapv:UnspecifiedMatching @@ -29702,6 +30013,7 @@ OMIM:601082 UBE2H skos:exactMatch hgnc.symbol:UBE2H semapv:UnspecifiedMatching OMIM:601082 UBE2H skos:exactMatch ncbigene:7328 semapv:UnspecifiedMatching OMIM:601083 cd4/cd8 t-cell ratio skos:exactMatch MONDO:0010990 semapv:UnspecifiedMatching OMIM:601086 laterality defects, autosomal dominant skos:exactMatch MONDO:0010991 semapv:UnspecifiedMatching +OMIM:601086 laterality defects, autosomal dominant skos:exactMatch hgnc.symbol:LATD semapv:UnspecifiedMatching OMIM:601088 ayme-gripp syndrome skos:exactMatch MONDO:0010992 semapv:UnspecifiedMatching OMIM:601088 ayme-gripp syndrome skos:exactMatch Orphanet:1272 semapv:UnspecifiedMatching OMIM:601088 ayme-gripp syndrome skos:exactMatch UMLS:C1832812 semapv:UnspecifiedMatching @@ -29750,6 +30062,7 @@ OMIM:601100 HSPA13 skos:exactMatch hgnc.symbol:11375 semapv:UnspecifiedMatching OMIM:601100 HSPA13 skos:exactMatch hgnc.symbol:HSPA13 semapv:UnspecifiedMatching OMIM:601100 HSPA13 skos:exactMatch ncbigene:6782 semapv:UnspecifiedMatching OMIM:601101 telangiectasia, hereditary hemorrhagic, type 3 skos:exactMatch MONDO:0010996 semapv:UnspecifiedMatching +OMIM:601101 telangiectasia, hereditary hemorrhagic, type 3 skos:exactMatch hgnc.symbol:HHT3 semapv:UnspecifiedMatching OMIM:601102 EIF4A2 skos:exactMatch hgnc.symbol:3284 semapv:UnspecifiedMatching OMIM:601102 EIF4A2 skos:exactMatch hgnc.symbol:EIF4A2 semapv:UnspecifiedMatching OMIM:601102 EIF4A2 skos:exactMatch ncbigene:1974 semapv:UnspecifiedMatching @@ -30014,8 +30327,10 @@ OMIM:601199 CASR skos:exactMatch hgnc.symbol:1514 semapv:UnspecifiedMatching OMIM:601199 CASR skos:exactMatch hgnc.symbol:CASR semapv:UnspecifiedMatching OMIM:601199 CASR skos:exactMatch ncbigene:846 semapv:UnspecifiedMatching OMIM:601200 pleuropulmonary blastoma skos:exactMatch MONDO:0011014 semapv:UnspecifiedMatching +OMIM:601201 methylation modifier for class 1 hla skos:exactMatch hgnc.symbol:LOC7795 semapv:UnspecifiedMatching OMIM:601201 methylation modifier for class 1 hla skos:exactMatch ncbigene:7795 semapv:UnspecifiedMatching OMIM:601202 cataract 24 skos:exactMatch MONDO:0011015 semapv:UnspecifiedMatching +OMIM:601202 cataract 24 skos:exactMatch hgnc.symbol:CTAA2 semapv:UnspecifiedMatching OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:5998 semapv:UnspecifiedMatching OMIM:601203 IL1RL1 skos:exactMatch hgnc.symbol:IL1RL1 semapv:UnspecifiedMatching OMIM:601203 IL1RL1 skos:exactMatch ncbigene:9173 semapv:UnspecifiedMatching @@ -30033,6 +30348,7 @@ OMIM:601207 DGKQ skos:exactMatch hgnc.symbol:DGKQ semapv:UnspecifiedMatching OMIM:601207 DGKQ skos:exactMatch ncbigene:1609 semapv:UnspecifiedMatching OMIM:601208 type 1 diabetes mellitus 11 skos:exactMatch MONDO:0011016 semapv:UnspecifiedMatching OMIM:601208 type 1 diabetes mellitus 11 skos:exactMatch UMLS:C1832605 semapv:UnspecifiedMatching +OMIM:601208 type 1 diabetes mellitus 11 skos:exactMatch hgnc.symbol:IDDM11 semapv:UnspecifiedMatching OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:8647 semapv:UnspecifiedMatching OMIM:601209 PCBP1 skos:exactMatch hgnc.symbol:PCBP1 semapv:UnspecifiedMatching OMIM:601209 PCBP1 skos:exactMatch ncbigene:5093 semapv:UnspecifiedMatching @@ -30297,6 +30613,7 @@ OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:4844 semapv:UnspecifiedMatching OMIM:601306 HCLS1 skos:exactMatch hgnc.symbol:HCLS1 semapv:UnspecifiedMatching OMIM:601306 HCLS1 skos:exactMatch ncbigene:3059 semapv:UnspecifiedMatching OMIM:601308 myeloid tumor suppressor skos:exactMatch MONDO:0011029 semapv:UnspecifiedMatching +OMIM:601308 myeloid tumor suppressor skos:exactMatch hgnc.symbol:MLRL semapv:UnspecifiedMatching OMIM:601309 PTCH1 skos:exactMatch hgnc.symbol:9585 semapv:UnspecifiedMatching OMIM:601309 PTCH1 skos:exactMatch hgnc.symbol:PTCH1 semapv:UnspecifiedMatching OMIM:601309 PTCH1 skos:exactMatch ncbigene:5727 semapv:UnspecifiedMatching @@ -30320,6 +30637,7 @@ OMIM:601316 deafness, autosomal dominant 10 skos:exactMatch MONDO:0011031 semap OMIM:601317 deafness, autosomal dominant 11 skos:exactMatch MONDO:0011032 semapv:UnspecifiedMatching OMIM:601318 type 1 diabetes mellitus 13 skos:exactMatch MONDO:0011033 semapv:UnspecifiedMatching OMIM:601318 type 1 diabetes mellitus 13 skos:exactMatch UMLS:C1832474 semapv:UnspecifiedMatching +OMIM:601318 type 1 diabetes mellitus 13 skos:exactMatch hgnc.symbol:IDDM13 semapv:UnspecifiedMatching OMIM:601319 odontomicronychial dysplasia skos:exactMatch MONDO:0011034 semapv:UnspecifiedMatching OMIM:601321 neurofibromatosis-noonan syndrome skos:exactMatch MONDO:0011035 semapv:UnspecifiedMatching OMIM:601322 porencephaly, cerebellar hypoplasia, and internal malformations skos:exactMatch MONDO:0011036 semapv:UnspecifiedMatching @@ -30401,7 +30719,9 @@ OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:4215 semapv:UnspecifiedMatching OMIM:601361 GDF10 skos:exactMatch hgnc.symbol:GDF10 semapv:UnspecifiedMatching OMIM:601361 GDF10 skos:exactMatch ncbigene:2662 semapv:UnspecifiedMatching OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 skos:exactMatch MONDO:0011055 semapv:UnspecifiedMatching +OMIM:601362 digeorge syndrome/velocardiofacial syndrome complex 2 skos:exactMatch hgnc.symbol:DGS2 semapv:UnspecifiedMatching OMIM:601363 wilms tumor 4 skos:exactMatch MONDO:0011056 semapv:UnspecifiedMatching +OMIM:601363 wilms tumor 4 skos:exactMatch hgnc.symbol:WT4 semapv:UnspecifiedMatching OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:1753 semapv:UnspecifiedMatching OMIM:601364 CDH13 skos:exactMatch hgnc.symbol:CDH13 semapv:UnspecifiedMatching OMIM:601364 CDH13 skos:exactMatch ncbigene:1012 semapv:UnspecifiedMatching @@ -30511,6 +30831,7 @@ OMIM:601406 BCL7A skos:exactMatch hgnc.symbol:BCL7A semapv:UnspecifiedMatching OMIM:601406 BCL7A skos:exactMatch ncbigene:605 semapv:UnspecifiedMatching OMIM:601407 type 2 diabetes mellitus 2 skos:exactMatch MONDO:0011072 semapv:UnspecifiedMatching OMIM:601407 type 2 diabetes mellitus 2 skos:exactMatch UMLS:C1832387 semapv:UnspecifiedMatching +OMIM:601407 type 2 diabetes mellitus 2 skos:exactMatch hgnc.symbol:NIDDM2 semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch UMLS:C1421709 semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch UMLS:C4225396 semapv:UnspecifiedMatching OMIM:601408 KAT6A skos:exactMatch hgnc.symbol:13013 semapv:UnspecifiedMatching @@ -30641,12 +30962,14 @@ OMIM:601450 dislocation of hip, congenital, with hyperextensibility of fingers a OMIM:601452 oculoauriculofrontonasal syndrome skos:exactMatch MONDO:0011082 semapv:UnspecifiedMatching OMIM:601453 trichodental dysplasia skos:exactMatch MONDO:0011083 semapv:UnspecifiedMatching OMIM:601454 psoriasis 3, susceptibility to skos:exactMatch MONDO:0011084 semapv:UnspecifiedMatching +OMIM:601454 psoriasis 3, susceptibility to skos:exactMatch hgnc.symbol:PSORS3 semapv:UnspecifiedMatching OMIM:601455 charcot-marie-tooth disease, type 4d skos:exactMatch MONDO:0011085 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:7178 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch hgnc.symbol:MMRN1 semapv:UnspecifiedMatching OMIM:601456 MMRN1 skos:exactMatch ncbigene:22915 semapv:UnspecifiedMatching OMIM:601457 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-positive skos:exactMatch MONDO:0011086 semapv:UnspecifiedMatching OMIM:601458 inflammatory bowel disease 2 skos:exactMatch MONDO:0011087 semapv:UnspecifiedMatching +OMIM:601458 inflammatory bowel disease 2 skos:exactMatch hgnc.symbol:IBD2 semapv:UnspecifiedMatching OMIM:601459 PNOC skos:exactMatch hgnc.symbol:9163 semapv:UnspecifiedMatching OMIM:601459 PNOC skos:exactMatch hgnc.symbol:PNOC semapv:UnspecifiedMatching OMIM:601459 PNOC skos:exactMatch ncbigene:5368 semapv:UnspecifiedMatching @@ -30680,6 +31003,7 @@ OMIM:601470 CX3CR1 skos:exactMatch hgnc.symbol:2558 semapv:UnspecifiedMatching OMIM:601470 CX3CR1 skos:exactMatch hgnc.symbol:CX3CR1 semapv:UnspecifiedMatching OMIM:601470 CX3CR1 skos:exactMatch ncbigene:1524 semapv:UnspecifiedMatching OMIM:601471 facial paresis, hereditary congenital, 1 skos:exactMatch MONDO:0024466 semapv:UnspecifiedMatching +OMIM:601471 facial paresis, hereditary congenital, 1 skos:exactMatch hgnc.symbol:MBS2 semapv:UnspecifiedMatching OMIM:601472 charcot-marie-tooth disease, axonal, type 2d skos:exactMatch MONDO:0011091 semapv:UnspecifiedMatching OMIM:601472 charcot-marie-tooth disease, axonal, type 2d skos:exactMatch Orphanet:99938 semapv:UnspecifiedMatching OMIM:601472 charcot-marie-tooth disease, axonal, type 2d skos:exactMatch UMLS:C1832274 semapv:UnspecifiedMatching @@ -30776,6 +31100,7 @@ OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:8859 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch hgnc.symbol:PEX6 semapv:UnspecifiedMatching OMIM:601498 PEX6 skos:exactMatch ncbigene:5190 semapv:UnspecifiedMatching OMIM:601499 axenfeld-rieger syndrome, type 2 skos:exactMatch MONDO:0011097 semapv:UnspecifiedMatching +OMIM:601499 axenfeld-rieger syndrome, type 2 skos:exactMatch hgnc.symbol:RIEG2 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C1364142 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C3838465 semapv:UnspecifiedMatching OMIM:601500 SMO skos:exactMatch UMLS:C4310933 semapv:UnspecifiedMatching @@ -31269,6 +31594,7 @@ OMIM:601664 SNRNP200 skos:exactMatch ncbigene:23020 semapv:UnspecifiedMatching OMIM:601665 obesity skos:exactMatch MONDO:0019182 semapv:UnspecifiedMatching OMIM:601666 type 1 diabetes mellitus 15 skos:exactMatch MONDO:0011123 semapv:UnspecifiedMatching OMIM:601666 type 1 diabetes mellitus 15 skos:exactMatch UMLS:C1866519 semapv:UnspecifiedMatching +OMIM:601666 type 1 diabetes mellitus 15 skos:exactMatch hgnc.symbol:IDDM15 semapv:UnspecifiedMatching OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:484 semapv:UnspecifiedMatching OMIM:601667 ANGPT1 skos:exactMatch hgnc.symbol:ANGPT1 semapv:UnspecifiedMatching OMIM:601667 ANGPT1 skos:exactMatch ncbigene:284 semapv:UnspecifiedMatching @@ -31291,6 +31617,7 @@ OMIM:601674 EZH1 skos:exactMatch hgnc.symbol:EZH1 semapv:UnspecifiedMatching OMIM:601674 EZH1 skos:exactMatch ncbigene:2145 semapv:UnspecifiedMatching OMIM:601675 trichothiodystrophy 1, photosensitive skos:exactMatch MONDO:0011125 semapv:UnspecifiedMatching OMIM:601676 acute insulin response skos:exactMatch MONDO:0011126 semapv:UnspecifiedMatching +OMIM:601676 acute insulin response skos:exactMatch hgnc.symbol:AIR semapv:UnspecifiedMatching OMIM:601677 NDUFA5 skos:exactMatch UMLS:C1417625 semapv:UnspecifiedMatching OMIM:601677 NDUFA5 skos:exactMatch hgnc.symbol:7688 semapv:UnspecifiedMatching OMIM:601677 NDUFA5 skos:exactMatch hgnc.symbol:NDUFA5 semapv:UnspecifiedMatching @@ -31304,6 +31631,7 @@ OMIM:601681 PSMC5 skos:exactMatch hgnc.symbol:9552 semapv:UnspecifiedMatching OMIM:601681 PSMC5 skos:exactMatch hgnc.symbol:PSMC5 semapv:UnspecifiedMatching OMIM:601681 PSMC5 skos:exactMatch ncbigene:5705 semapv:UnspecifiedMatching OMIM:601682 glaucoma 1, primary open angle, c skos:exactMatch MONDO:0011129 semapv:UnspecifiedMatching +OMIM:601682 glaucoma 1, primary open angle, c skos:exactMatch hgnc.symbol:GLC1C semapv:UnspecifiedMatching OMIM:601683 COQ7 skos:exactMatch hgnc.symbol:2244 semapv:UnspecifiedMatching OMIM:601683 COQ7 skos:exactMatch hgnc.symbol:COQ7 semapv:UnspecifiedMatching OMIM:601683 COQ7 skos:exactMatch ncbigene:10229 semapv:UnspecifiedMatching @@ -31360,6 +31688,7 @@ OMIM:601692 TGFBI skos:exactMatch ncbigene:7045 semapv:UnspecifiedMatching OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:12518 semapv:UnspecifiedMatching OMIM:601693 UCP2 skos:exactMatch hgnc.symbol:UCP2 semapv:UnspecifiedMatching OMIM:601693 UCP2 skos:exactMatch ncbigene:7351 semapv:UnspecifiedMatching +OMIM:601694 leptin, serum level of, quantitative trait locus 1 skos:exactMatch hgnc.symbol:LEPQTL1 semapv:UnspecifiedMatching OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:2446 semapv:UnspecifiedMatching OMIM:601695 CSN3 skos:exactMatch hgnc.symbol:CSN3 semapv:UnspecifiedMatching OMIM:601695 CSN3 skos:exactMatch ncbigene:1448 semapv:UnspecifiedMatching @@ -31572,6 +31901,7 @@ OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:1509 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch hgnc.symbol:CASP8 semapv:UnspecifiedMatching OMIM:601763 CASP8 skos:exactMatch ncbigene:841 semapv:UnspecifiedMatching OMIM:601764 seizures, benign familial infantile, 1 skos:exactMatch MONDO:0042499 semapv:UnspecifiedMatching +OMIM:601764 seizures, benign familial infantile, 1 skos:exactMatch hgnc.symbol:BFIS1 semapv:UnspecifiedMatching OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:4047 semapv:UnspecifiedMatching OMIM:601766 FZD9 skos:exactMatch hgnc.symbol:FZD9 semapv:UnspecifiedMatching OMIM:601766 FZD9 skos:exactMatch ncbigene:8326 semapv:UnspecifiedMatching @@ -31882,6 +32212,7 @@ OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch MONDO:0 OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch Orphanet:423 semapv:UnspecifiedMatching OMIM:601887 malignant hyperthermia, susceptibility to, 5 skos:exactMatch UMLS:C1866077 semapv:UnspecifiedMatching OMIM:601888 malignant hyperthermia, susceptibility to, 6 skos:exactMatch MONDO:0011164 semapv:UnspecifiedMatching +OMIM:601888 malignant hyperthermia, susceptibility to, 6 skos:exactMatch hgnc.symbol:MHS6 semapv:UnspecifiedMatching OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:1007 semapv:UnspecifiedMatching OMIM:601889 NBEAP1 skos:exactMatch hgnc.symbol:NBEAP1 semapv:UnspecifiedMatching OMIM:601889 NBEAP1 skos:exactMatch ncbigene:606 semapv:UnspecifiedMatching @@ -32036,6 +32367,7 @@ OMIM:601940 SRSF4 skos:exactMatch ncbigene:6429 semapv:UnspecifiedMatching OMIM:601941 type 1 diabetes mellitus 6 skos:exactMatch MONDO:0011167 semapv:UnspecifiedMatching OMIM:601941 type 1 diabetes mellitus 6 skos:exactMatch UMLS:C1866041 semapv:UnspecifiedMatching OMIM:601941 type 1 diabetes mellitus 6 skos:exactMatch UMLS:C2748621 semapv:UnspecifiedMatching +OMIM:601941 type 1 diabetes mellitus 6 skos:exactMatch hgnc.symbol:IDDM6 semapv:UnspecifiedMatching OMIM:601942 type 1 diabetes mellitus 10 skos:exactMatch MONDO:0011168 semapv:UnspecifiedMatching OMIM:601942 type 1 diabetes mellitus 10 skos:exactMatch UMLS:C1866040 semapv:UnspecifiedMatching OMIM:601943 SRSF9 skos:exactMatch hgnc.symbol:10791 semapv:UnspecifiedMatching @@ -32172,6 +32504,7 @@ OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:7887 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch hgnc.symbol:NOVA2 semapv:UnspecifiedMatching OMIM:601991 NOVA2 skos:exactMatch ncbigene:4858 semapv:UnspecifiedMatching OMIM:601992 friedreich ataxia 2 skos:exactMatch MONDO:0011175 semapv:UnspecifiedMatching +OMIM:601992 friedreich ataxia 2 skos:exactMatch hgnc.symbol:FRDA2 semapv:UnspecifiedMatching OMIM:601993 NCOA2 skos:exactMatch UMLS:C1334867 semapv:UnspecifiedMatching OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:7669 semapv:UnspecifiedMatching OMIM:601993 NCOA2 skos:exactMatch hgnc.symbol:NCOA2 semapv:UnspecifiedMatching @@ -32227,6 +32560,7 @@ OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:10782 semapv:UnspecifiedMatching OMIM:602010 SRSF11 skos:exactMatch hgnc.symbol:SRSF11 semapv:UnspecifiedMatching OMIM:602010 SRSF11 skos:exactMatch ncbigene:9295 semapv:UnspecifiedMatching OMIM:602011 suppressor of tumorigenicity 11 skos:exactMatch UMLS:C1420440 semapv:UnspecifiedMatching +OMIM:602011 suppressor of tumorigenicity 11 skos:exactMatch hgnc.symbol:ST11 semapv:UnspecifiedMatching OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:3364 semapv:UnspecifiedMatching OMIM:602012 ENTPD2 skos:exactMatch hgnc.symbol:ENTPD2 semapv:UnspecifiedMatching OMIM:602012 ENTPD2 skos:exactMatch ncbigene:954 semapv:UnspecifiedMatching @@ -32425,8 +32759,11 @@ OMIM:602081 speech-language disorder 1 skos:exactMatch UMLS:C0750927 semapv:Uns OMIM:602082 corneal dystrophy, thiel-behnke type skos:exactMatch MONDO:0011185 semapv:UnspecifiedMatching OMIM:602083 usher syndrome, type 1f skos:exactMatch MONDO:0011186 semapv:UnspecifiedMatching OMIM:602085 polydactyly, postaxial, type a2 skos:exactMatch MONDO:0011187 semapv:UnspecifiedMatching +OMIM:602085 polydactyly, postaxial, type a2 skos:exactMatch hgnc.symbol:PAPA2 semapv:UnspecifiedMatching OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 skos:exactMatch MONDO:0011188 semapv:UnspecifiedMatching +OMIM:602086 arrhythmogenic right ventricular dysplasia, familial, 3 skos:exactMatch hgnc.symbol:ARVD3 semapv:UnspecifiedMatching OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 skos:exactMatch MONDO:0011189 semapv:UnspecifiedMatching +OMIM:602087 arrhythmogenic right ventricular dysplasia, familial, 4 skos:exactMatch hgnc.symbol:ARVD4 semapv:UnspecifiedMatching OMIM:602088 nephronophthisis 2 skos:exactMatch MONDO:0011190 semapv:UnspecifiedMatching OMIM:602089 hemangioma, capillary infantile skos:exactMatch MONDO:0011191 semapv:UnspecifiedMatching OMIM:602090 LTBP3 skos:exactMatch hgnc.symbol:6716 semapv:UnspecifiedMatching @@ -32443,7 +32780,9 @@ OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:11015 semapv:UnspecifiedMatchin OMIM:602095 SLC30A4 skos:exactMatch hgnc.symbol:SLC30A4 semapv:UnspecifiedMatching OMIM:602095 SLC30A4 skos:exactMatch ncbigene:7782 semapv:UnspecifiedMatching OMIM:602096 alzheimer disease 5 skos:exactMatch MONDO:0011194 semapv:UnspecifiedMatching +OMIM:602096 alzheimer disease 5 skos:exactMatch hgnc.symbol:AD5 semapv:UnspecifiedMatching OMIM:602097 usher syndrome, type 1e skos:exactMatch MONDO:0011195 semapv:UnspecifiedMatching +OMIM:602097 usher syndrome, type 1e skos:exactMatch hgnc.symbol:USH1E semapv:UnspecifiedMatching OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:9077 semapv:UnspecifiedMatching OMIM:602098 PLK1 skos:exactMatch hgnc.symbol:PLK1 semapv:UnspecifiedMatching OMIM:602098 PLK1 skos:exactMatch ncbigene:5347 semapv:UnspecifiedMatching @@ -32531,6 +32870,7 @@ OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:1463 semapv:UnspecifiedMatching OMIM:602123 CAMK2G skos:exactMatch hgnc.symbol:CAMK2G semapv:UnspecifiedMatching OMIM:602123 CAMK2G skos:exactMatch ncbigene:818 semapv:UnspecifiedMatching OMIM:602124 dystonia 7, torsion skos:exactMatch MONDO:0011200 semapv:UnspecifiedMatching +OMIM:602124 dystonia 7, torsion skos:exactMatch hgnc.symbol:DYT7 semapv:UnspecifiedMatching OMIM:602125 COX10 skos:exactMatch UMLS:C1413629 semapv:UnspecifiedMatching OMIM:602125 COX10 skos:exactMatch UMLS:C5436682 semapv:UnspecifiedMatching OMIM:602125 COX10 skos:exactMatch hgnc.symbol:2260 semapv:UnspecifiedMatching @@ -32562,6 +32902,7 @@ OMIM:602133 PFAS skos:exactMatch hgnc.symbol:8863 semapv:UnspecifiedMatching OMIM:602133 PFAS skos:exactMatch hgnc.symbol:PFAS semapv:UnspecifiedMatching OMIM:602133 PFAS skos:exactMatch ncbigene:5198 semapv:UnspecifiedMatching OMIM:602134 tremor, hereditary essential, 2 skos:exactMatch MONDO:0011201 semapv:UnspecifiedMatching +OMIM:602134 tremor, hereditary essential, 2 skos:exactMatch hgnc.symbol:ETM2 semapv:UnspecifiedMatching OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:14353 semapv:UnspecifiedMatching OMIM:602135 DNALI1 skos:exactMatch hgnc.symbol:DNALI1 semapv:UnspecifiedMatching OMIM:602135 DNALI1 skos:exactMatch ncbigene:7802 semapv:UnspecifiedMatching @@ -33349,6 +33690,7 @@ OMIM:602399 MAPK12 skos:exactMatch hgnc.symbol:MAPK12 semapv:UnspecifiedMatchin OMIM:602399 MAPK12 skos:exactMatch ncbigene:6300 semapv:UnspecifiedMatching OMIM:602400 ichthyosis, congenital, autosomal recessive 11 skos:exactMatch MONDO:0011218 semapv:UnspecifiedMatching OMIM:602401 ectodermal dysplasia 8, hair/tooth/nail type skos:exactMatch MONDO:0011219 semapv:UnspecifiedMatching +OMIM:602401 ectodermal dysplasia 8, hair/tooth/nail type skos:exactMatch hgnc.symbol:ECTD8 semapv:UnspecifiedMatching OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:3801 semapv:UnspecifiedMatching OMIM:602402 FOXC2 skos:exactMatch hgnc.symbol:FOXC2 semapv:UnspecifiedMatching OMIM:602402 FOXC2 skos:exactMatch ncbigene:2303 semapv:UnspecifiedMatching @@ -33356,6 +33698,7 @@ OMIM:602403 BLMH skos:exactMatch hgnc.symbol:1059 semapv:UnspecifiedMatching OMIM:602403 BLMH skos:exactMatch hgnc.symbol:BLMH semapv:UnspecifiedMatching OMIM:602403 BLMH skos:exactMatch ncbigene:642 semapv:UnspecifiedMatching OMIM:602404 parkinson disease 3, autosomal dominant skos:exactMatch MONDO:0011220 semapv:UnspecifiedMatching +OMIM:602404 parkinson disease 3, autosomal dominant skos:exactMatch hgnc.symbol:PARK3 semapv:UnspecifiedMatching OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:4807 semapv:UnspecifiedMatching OMIM:602406 HAND1 skos:exactMatch hgnc.symbol:HAND1 semapv:UnspecifiedMatching OMIM:602406 HAND1 skos:exactMatch ncbigene:9421 semapv:UnspecifiedMatching @@ -33428,6 +33771,7 @@ OMIM:602428 HAS3 skos:exactMatch hgnc.symbol:4820 semapv:UnspecifiedMatching OMIM:602428 HAS3 skos:exactMatch hgnc.symbol:HAS3 semapv:UnspecifiedMatching OMIM:602428 HAS3 skos:exactMatch ncbigene:3038 semapv:UnspecifiedMatching OMIM:602429 glaucoma 1, open angle, d skos:exactMatch MONDO:0011222 semapv:UnspecifiedMatching +OMIM:602429 glaucoma 1, open angle, d skos:exactMatch hgnc.symbol:GLC1D semapv:UnspecifiedMatching OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:10249 semapv:UnspecifiedMatching OMIM:602430 ROBO1 skos:exactMatch hgnc.symbol:ROBO1 semapv:UnspecifiedMatching OMIM:602430 ROBO1 skos:exactMatch ncbigene:6091 semapv:UnspecifiedMatching @@ -33540,6 +33884,7 @@ OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:29650 semapv:UnspecifiedMatching OMIM:602474 PKMYT1 skos:exactMatch hgnc.symbol:PKMYT1 semapv:UnspecifiedMatching OMIM:602474 PKMYT1 skos:exactMatch ncbigene:9088 semapv:UnspecifiedMatching OMIM:602475 ossification of the posterior longitudinal ligament of spine skos:exactMatch MONDO:0011230 semapv:UnspecifiedMatching +OMIM:602475 ossification of the posterior longitudinal ligament of spine skos:exactMatch hgnc.symbol:OPLL semapv:UnspecifiedMatching OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 skos:exactMatch MONDO:0100519 semapv:UnspecifiedMatching OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:2977 semapv:UnspecifiedMatching OMIM:602478 TRDMT1 skos:exactMatch hgnc.symbol:TRDMT1 semapv:UnspecifiedMatching @@ -33850,6 +34195,7 @@ OMIM:602593 CDSN skos:exactMatch hgnc.symbol:1802 semapv:UnspecifiedMatching OMIM:602593 CDSN skos:exactMatch hgnc.symbol:CDSN semapv:UnspecifiedMatching OMIM:602593 CDSN skos:exactMatch ncbigene:1041 semapv:UnspecifiedMatching OMIM:602594 retinitis pigmentosa 22 skos:exactMatch MONDO:0011259 semapv:UnspecifiedMatching +OMIM:602594 retinitis pigmentosa 22 skos:exactMatch hgnc.symbol:RP22 semapv:UnspecifiedMatching OMIM:602595 GEMIN2 skos:exactMatch UMLS:C1420069 semapv:UnspecifiedMatching OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:10884 semapv:UnspecifiedMatching OMIM:602595 GEMIN2 skos:exactMatch hgnc.symbol:GEMIN2 semapv:UnspecifiedMatching @@ -33968,6 +34314,7 @@ OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:6947 semapv:UnspecifiedMatching OMIM:602638 MCM4 skos:exactMatch hgnc.symbol:MCM4 semapv:UnspecifiedMatching OMIM:602638 MCM4 skos:exactMatch ncbigene:4173 semapv:UnspecifiedMatching OMIM:602639 tooth agenesis, selective, 2 skos:exactMatch MONDO:0011265 semapv:UnspecifiedMatching +OMIM:602639 tooth agenesis, selective, 2 skos:exactMatch hgnc.symbol:HYD2 semapv:UnspecifiedMatching OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:23536 semapv:UnspecifiedMatching OMIM:602640 NAALADL1 skos:exactMatch hgnc.symbol:NAALADL1 semapv:UnspecifiedMatching OMIM:602640 NAALADL1 skos:exactMatch ncbigene:10004 semapv:UnspecifiedMatching @@ -34111,6 +34458,7 @@ OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:945 semapv:UnspecifiedMatching OMIM:602684 ADGRB3 skos:exactMatch hgnc.symbol:ADGRB3 semapv:UnspecifiedMatching OMIM:602684 ADGRB3 skos:exactMatch ncbigene:577 semapv:UnspecifiedMatching OMIM:602685 intellectual developmental disorder with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch MONDO:0011267 semapv:UnspecifiedMatching +OMIM:602685 intellectual developmental disorder with spasticity and pigmentary tapetoretinal degeneration skos:exactMatch hgnc.symbol:MRST semapv:UnspecifiedMatching OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:6762 semapv:UnspecifiedMatching OMIM:602686 MAD1L1 skos:exactMatch hgnc.symbol:MAD1L1 semapv:UnspecifiedMatching OMIM:602686 MAD1L1 skos:exactMatch ncbigene:8379 semapv:UnspecifiedMatching @@ -34345,6 +34693,7 @@ OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:8984 semapv:UnspecifiedMatching OMIM:602758 PI4KB skos:exactMatch hgnc.symbol:PI4KB semapv:UnspecifiedMatching OMIM:602758 PI4KB skos:exactMatch ncbigene:5298 semapv:UnspecifiedMatching OMIM:602759 prostate cancer, hereditary, 8 skos:exactMatch MONDO:0011270 semapv:UnspecifiedMatching +OMIM:602759 prostate cancer, hereditary, 8 skos:exactMatch hgnc.symbol:PCAP semapv:UnspecifiedMatching OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:6449 semapv:UnspecifiedMatching OMIM:602760 KRT32 skos:exactMatch hgnc.symbol:KRT32 semapv:UnspecifiedMatching OMIM:602760 KRT32 skos:exactMatch ncbigene:3882 semapv:UnspecifiedMatching @@ -34993,6 +35342,7 @@ OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:141291 semapv:Unspecifie OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching OMIM:602966 orofacial cleft 2 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:602966 orofacial cleft 2 skos:exactMatch UMLS:C1864323 semapv:UnspecifiedMatching +OMIM:602966 orofacial cleft 2 skos:exactMatch hgnc.symbol:OFC2 semapv:UnspecifiedMatching OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:13009 semapv:UnspecifiedMatching OMIM:602967 ZNF217 skos:exactMatch hgnc.symbol:ZNF217 semapv:UnspecifiedMatching OMIM:602967 ZNF217 skos:exactMatch ncbigene:7764 semapv:UnspecifiedMatching @@ -35129,6 +35479,7 @@ OMIM:603009 DYSF skos:exactMatch hgnc.symbol:3097 semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch hgnc.symbol:DYSF semapv:UnspecifiedMatching OMIM:603009 DYSF skos:exactMatch ncbigene:8291 semapv:UnspecifiedMatching OMIM:603010 deafness, autosomal recessive 17 skos:exactMatch MONDO:0011279 semapv:UnspecifiedMatching +OMIM:603010 deafness, autosomal recessive 17 skos:exactMatch hgnc.symbol:DFNB17 semapv:UnspecifiedMatching OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:10755 semapv:UnspecifiedMatching OMIM:603011 SERF1A skos:exactMatch hgnc.symbol:SERF1A semapv:UnspecifiedMatching OMIM:603011 SERF1A skos:exactMatch ncbigene:8293 semapv:UnspecifiedMatching @@ -35136,6 +35487,7 @@ OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:5233 semapv:UnspecifiedMatching OMIM:603012 HSPA1B skos:exactMatch hgnc.symbol:HSPA1B semapv:UnspecifiedMatching OMIM:603012 HSPA1B skos:exactMatch ncbigene:3304 semapv:UnspecifiedMatching OMIM:603013 schizophrenia 6 skos:exactMatch MONDO:0011280 semapv:UnspecifiedMatching +OMIM:603013 schizophrenia 6 skos:exactMatch hgnc.symbol:SCZD6 semapv:UnspecifiedMatching OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:6847 semapv:UnspecifiedMatching OMIM:603014 MAP2K7 skos:exactMatch hgnc.symbol:MAP2K7 semapv:UnspecifiedMatching OMIM:603014 MAP2K7 skos:exactMatch ncbigene:5609 semapv:UnspecifiedMatching @@ -35226,6 +35578,7 @@ OMIM:603039 MNT skos:exactMatch hgnc.symbol:7188 semapv:UnspecifiedMatching OMIM:603039 MNT skos:exactMatch hgnc.symbol:MNT semapv:UnspecifiedMatching OMIM:603039 MNT skos:exactMatch ncbigene:4335 semapv:UnspecifiedMatching OMIM:603040 tumor suppressor gene on chromosome 11 skos:exactMatch MONDO:0011282 semapv:UnspecifiedMatching +OMIM:603040 tumor suppressor gene on chromosome 11 skos:exactMatch hgnc.symbol:TSG11 semapv:UnspecifiedMatching OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch MONDO:0011283 semapv:UnspecifiedMatching OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch Orphanet:298 semapv:UnspecifiedMatching OMIM:603041 mitochondrial DNA depletion syndrome 1 (mngie type) skos:exactMatch UMLS:C0872218 semapv:UnspecifiedMatching @@ -35379,6 +35732,7 @@ OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:856 semapv:UnspecifiedMatching OMIM:603097 ATP6V1C1 skos:exactMatch hgnc.symbol:ATP6V1C1 semapv:UnspecifiedMatching OMIM:603097 ATP6V1C1 skos:exactMatch ncbigene:528 semapv:UnspecifiedMatching OMIM:603098 deafness, autosomal recessive 13 skos:exactMatch MONDO:0011286 semapv:UnspecifiedMatching +OMIM:603098 deafness, autosomal recessive 13 skos:exactMatch hgnc.symbol:DFNB13 semapv:UnspecifiedMatching OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:324 semapv:UnspecifiedMatching OMIM:603099 AGPAT1 skos:exactMatch hgnc.symbol:AGPAT1 semapv:UnspecifiedMatching OMIM:603099 AGPAT1 skos:exactMatch ncbigene:10554 semapv:UnspecifiedMatching @@ -35577,7 +35931,8 @@ OMIM:603163 SCRG1 skos:exactMatch ncbigene:11341 semapv:UnspecifiedMatching OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:8858 semapv:UnspecifiedMatching OMIM:603164 PEX3 skos:exactMatch hgnc.symbol:PEX3 semapv:UnspecifiedMatching OMIM:603164 PEX3 skos:exactMatch ncbigene:8504 semapv:UnspecifiedMatching -OMIM:603165 dermatitis, atopic skos:exactMatch MONDO:0011292 semapv:UnspecifiedMatching +OMIM:603165 dermatitis, atopic skos:exactMatch MONDO:0004980 semapv:UnspecifiedMatching +OMIM:603165 dermatitis, atopic skos:exactMatch hgnc.symbol:ATOD1 semapv:UnspecifiedMatching OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:6864 semapv:UnspecifiedMatching OMIM:603166 MAP4K2 skos:exactMatch hgnc.symbol:MAP4K2 semapv:UnspecifiedMatching OMIM:603166 MAP4K2 skos:exactMatch ncbigene:5871 semapv:UnspecifiedMatching @@ -35608,6 +35963,7 @@ OMIM:603173 UBE2M skos:exactMatch ncbigene:9040 semapv:UnspecifiedMatching OMIM:603174 hyperhomocysteinemia skos:exactMatch MONDO:0004743 semapv:UnspecifiedMatching OMIM:603175 schizophrenia 5 skos:exactMatch MONDO:0011294 semapv:UnspecifiedMatching OMIM:603176 schizophrenia 7 skos:exactMatch MONDO:0011295 semapv:UnspecifiedMatching +OMIM:603176 schizophrenia 7 skos:exactMatch hgnc.symbol:SCZD7 semapv:UnspecifiedMatching OMIM:603177 VAMP8 skos:exactMatch hgnc.symbol:12647 semapv:UnspecifiedMatching OMIM:603177 VAMP8 skos:exactMatch hgnc.symbol:VAMP8 semapv:UnspecifiedMatching OMIM:603177 VAMP8 skos:exactMatch ncbigene:8673 semapv:UnspecifiedMatching @@ -35646,6 +36002,7 @@ OMIM:603187 CETN1 skos:exactMatch UMLS:C1413350 semapv:UnspecifiedMatching OMIM:603187 CETN1 skos:exactMatch hgnc.symbol:1866 semapv:UnspecifiedMatching OMIM:603187 CETN1 skos:exactMatch hgnc.symbol:CETN1 semapv:UnspecifiedMatching OMIM:603187 CETN1 skos:exactMatch ncbigene:1068 semapv:UnspecifiedMatching +OMIM:603188 body mass index quantitative trait locus 8 skos:exactMatch hgnc.symbol:BMIQ8 semapv:UnspecifiedMatching OMIM:603189 STX5 skos:exactMatch hgnc.symbol:11440 semapv:UnspecifiedMatching OMIM:603189 STX5 skos:exactMatch hgnc.symbol:STX5 semapv:UnspecifiedMatching OMIM:603189 STX5 skos:exactMatch ncbigene:6811 semapv:UnspecifiedMatching @@ -35692,10 +36049,12 @@ OMIM:603203 CCNG2 skos:exactMatch hgnc.symbol:1593 semapv:UnspecifiedMatching OMIM:603203 CCNG2 skos:exactMatch hgnc.symbol:CCNG2 semapv:UnspecifiedMatching OMIM:603203 CCNG2 skos:exactMatch ncbigene:901 semapv:UnspecifiedMatching OMIM:603204 epilepsy, nocturnal frontal lobe, 2 skos:exactMatch MONDO:0011297 semapv:UnspecifiedMatching +OMIM:603204 epilepsy, nocturnal frontal lobe, 2 skos:exactMatch hgnc.symbol:ENFL2 semapv:UnspecifiedMatching OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:7198 semapv:UnspecifiedMatching OMIM:603205 MORC1 skos:exactMatch hgnc.symbol:MORC1 semapv:UnspecifiedMatching OMIM:603205 MORC1 skos:exactMatch ncbigene:27136 semapv:UnspecifiedMatching OMIM:603206 schizophrenia 8 skos:exactMatch MONDO:0011298 semapv:UnspecifiedMatching +OMIM:603206 schizophrenia 8 skos:exactMatch hgnc.symbol:SCZD8 semapv:UnspecifiedMatching OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:17793 semapv:UnspecifiedMatching OMIM:603207 VTI1B skos:exactMatch hgnc.symbol:VTI1B semapv:UnspecifiedMatching OMIM:603207 VTI1B skos:exactMatch ncbigene:10490 semapv:UnspecifiedMatching @@ -35739,6 +36098,7 @@ OMIM:603220 KCNK3 skos:exactMatch hgnc.symbol:6278 semapv:UnspecifiedMatching OMIM:603220 KCNK3 skos:exactMatch hgnc.symbol:KCNK3 semapv:UnspecifiedMatching OMIM:603220 KCNK3 skos:exactMatch ncbigene:3777 semapv:UnspecifiedMatching OMIM:603221 myopia 3, autosomal dominant skos:exactMatch MONDO:0011300 semapv:UnspecifiedMatching +OMIM:603221 myopia 3, autosomal dominant skos:exactMatch hgnc.symbol:MYP3 semapv:UnspecifiedMatching OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:32688 semapv:UnspecifiedMatching OMIM:603222 u22 host gene skos:exactMatch hgnc.symbol:SNHG1 semapv:UnspecifiedMatching OMIM:603222 u22 host gene skos:exactMatch ncbigene:23642 semapv:UnspecifiedMatching @@ -35874,6 +36234,7 @@ OMIM:603265 ARID3A skos:exactMatch hgnc.symbol:ARID3A semapv:UnspecifiedMatchin OMIM:603265 ARID3A skos:exactMatch ncbigene:1820 semapv:UnspecifiedMatching OMIM:603266 type 1 diabetes mellitus 17 skos:exactMatch MONDO:0011302 semapv:UnspecifiedMatching OMIM:603266 type 1 diabetes mellitus 17 skos:exactMatch UMLS:C1864068 semapv:UnspecifiedMatching +OMIM:603266 type 1 diabetes mellitus 17 skos:exactMatch hgnc.symbol:IDDM17 semapv:UnspecifiedMatching OMIM:603267 CAPN15 skos:exactMatch UMLS:C1420309 semapv:UnspecifiedMatching OMIM:603267 CAPN15 skos:exactMatch hgnc.symbol:11182 semapv:UnspecifiedMatching OMIM:603267 CAPN15 skos:exactMatch hgnc.symbol:CAPN15 semapv:UnspecifiedMatching @@ -36101,6 +36462,7 @@ OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:2945 semapv:UnspecifiedMatching OMIM:603341 DNAH14 skos:exactMatch hgnc.symbol:DNAH14 semapv:UnspecifiedMatching OMIM:603341 DNAH14 skos:exactMatch ncbigene:127602 semapv:UnspecifiedMatching OMIM:603342 schizophrenia 2 skos:exactMatch MONDO:0011307 semapv:UnspecifiedMatching +OMIM:603342 schizophrenia 2 skos:exactMatch hgnc.symbol:SCZD2 semapv:UnspecifiedMatching OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:9828 semapv:UnspecifiedMatching OMIM:603343 RAE1 skos:exactMatch hgnc.symbol:RAE1 semapv:UnspecifiedMatching OMIM:603343 RAE1 skos:exactMatch ncbigene:8480 semapv:UnspecifiedMatching @@ -36229,8 +36591,10 @@ OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:621 semapv:UnspecifiedMatching OMIM:603385 NAE1 skos:exactMatch hgnc.symbol:NAE1 semapv:UnspecifiedMatching OMIM:603385 NAE1 skos:exactMatch ncbigene:8883 semapv:UnspecifiedMatching OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch MONDO:0011312 semapv:UnspecifiedMatching +OMIM:603386 thyroid carcinoma, nonmedullary, with or without cell oxyphilia skos:exactMatch hgnc.symbol:TCO semapv:UnspecifiedMatching OMIM:603387 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 skos:exactMatch MONDO:0011313 semapv:UnspecifiedMatching OMIM:603388 graves disease, susceptibility to, 2 skos:exactMatch MONDO:0011314 semapv:UnspecifiedMatching +OMIM:603388 graves disease, susceptibility to, 2 skos:exactMatch hgnc.symbol:GRD2 semapv:UnspecifiedMatching OMIM:603389 osebold skeletal dysplasia/osteolysis syndrome skos:exactMatch MONDO:0011315 semapv:UnspecifiedMatching OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:8794 semapv:UnspecifiedMatching OMIM:603390 PDE8B skos:exactMatch hgnc.symbol:PDE8B semapv:UnspecifiedMatching @@ -37003,6 +37367,8 @@ OMIM:603661 RPL17 skos:exactMatch ncbigene:6139 semapv:UnspecifiedMatching OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:10316 semapv:UnspecifiedMatching OMIM:603662 RPL23 skos:exactMatch hgnc.symbol:RPL23 semapv:UnspecifiedMatching OMIM:603662 RPL23 skos:exactMatch ncbigene:9349 semapv:UnspecifiedMatching +OMIM:603663 mental health wellness 1 skos:exactMatch hgnc.symbol:MHW1 semapv:UnspecifiedMatching +OMIM:603664 mental health wellness 2 skos:exactMatch hgnc.symbol:MHW2 semapv:UnspecifiedMatching OMIM:603665 STC2 skos:exactMatch hgnc.symbol:11374 semapv:UnspecifiedMatching OMIM:603665 STC2 skos:exactMatch hgnc.symbol:STC2 semapv:UnspecifiedMatching OMIM:603665 STC2 skos:exactMatch ncbigene:8614 semapv:UnspecifiedMatching @@ -37033,6 +37399,7 @@ OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:10396 semapv:UnspecifiedMatching OMIM:603675 RPS16 skos:exactMatch hgnc.symbol:RPS16 semapv:UnspecifiedMatching OMIM:603675 RPS16 skos:exactMatch ncbigene:6217 semapv:UnspecifiedMatching OMIM:603678 deafness, autosomal recessive 14 skos:exactMatch MONDO:0011360 semapv:UnspecifiedMatching +OMIM:603678 deafness, autosomal recessive 14 skos:exactMatch hgnc.symbol:DFNB14 semapv:UnspecifiedMatching OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:12492 semapv:UnspecifiedMatching OMIM:603679 UBE2N skos:exactMatch hgnc.symbol:UBE2N semapv:UnspecifiedMatching OMIM:603679 UBE2N skos:exactMatch ncbigene:7334 semapv:UnspecifiedMatching @@ -37081,6 +37448,7 @@ OMIM:603693 ZFPM2 skos:exactMatch hgnc.symbol:ZFPM2 semapv:UnspecifiedMatching OMIM:603693 ZFPM2 skos:exactMatch ncbigene:23414 semapv:UnspecifiedMatching OMIM:603694 type 2 diabetes mellitus 3 skos:exactMatch MONDO:0011363 semapv:UnspecifiedMatching OMIM:603694 type 2 diabetes mellitus 3 skos:exactMatch UMLS:C1863594 semapv:UnspecifiedMatching +OMIM:603694 type 2 diabetes mellitus 3 skos:exactMatch hgnc.symbol:NIDDM3 semapv:UnspecifiedMatching OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:4686 semapv:UnspecifiedMatching OMIM:603695 GUCY1B2 skos:exactMatch hgnc.symbol:GUCY1B2 semapv:UnspecifiedMatching OMIM:603695 GUCY1B2 skos:exactMatch ncbigene:2974 semapv:UnspecifiedMatching @@ -37346,6 +37714,7 @@ OMIM:603781 RECQL5 skos:exactMatch ncbigene:9400 semapv:UnspecifiedMatching OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:10631 semapv:UnspecifiedMatching OMIM:603782 CCL4L1 skos:exactMatch hgnc.symbol:CCL4L1 semapv:UnspecifiedMatching OMIM:603782 CCL4L1 skos:exactMatch ncbigene:388372 semapv:UnspecifiedMatching +OMIM:603783 intelligence quantitative trait locus 1 skos:exactMatch hgnc.symbol:INTLQ1 semapv:UnspecifiedMatching OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:13524 semapv:UnspecifiedMatching OMIM:603784 PTTG1IP skos:exactMatch hgnc.symbol:PTTG1IP semapv:UnspecifiedMatching OMIM:603784 PTTG1IP skos:exactMatch ncbigene:754 semapv:UnspecifiedMatching @@ -37557,6 +37926,7 @@ OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:13727 semapv:UnspecifiedMatching OMIM:603854 RANBP9 skos:exactMatch hgnc.symbol:RANBP9 semapv:UnspecifiedMatching OMIM:603854 RANBP9 skos:exactMatch ncbigene:10048 semapv:UnspecifiedMatching OMIM:603855 cystic fibrosis, modifier of, 1 skos:exactMatch MONDO:0011378 semapv:UnspecifiedMatching +OMIM:603855 cystic fibrosis, modifier of, 1 skos:exactMatch hgnc.symbol:CFM1 semapv:UnspecifiedMatching OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:7114 semapv:UnspecifiedMatching OMIM:603856 MKRN3 skos:exactMatch hgnc.symbol:MKRN3 semapv:UnspecifiedMatching OMIM:603856 MKRN3 skos:exactMatch ncbigene:7681 semapv:UnspecifiedMatching @@ -37733,6 +38103,7 @@ OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:3280 semapv:UnspecifiedMatching OMIM:603917 EIF3B skos:exactMatch hgnc.symbol:EIF3B semapv:UnspecifiedMatching OMIM:603917 EIF3B skos:exactMatch ncbigene:8662 semapv:UnspecifiedMatching OMIM:603918 hypertension, essential, susceptibility to, 1 skos:exactMatch MONDO:0011384 semapv:UnspecifiedMatching +OMIM:603918 hypertension, essential, susceptibility to, 1 skos:exactMatch hgnc.symbol:HYT1 semapv:UnspecifiedMatching OMIM:603919 STK10 skos:exactMatch hgnc.symbol:11388 semapv:UnspecifiedMatching OMIM:603919 STK10 skos:exactMatch hgnc.symbol:STK10 semapv:UnspecifiedMatching OMIM:603919 STK10 skos:exactMatch ncbigene:6793 semapv:UnspecifiedMatching @@ -37775,6 +38146,7 @@ OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:23393 semapv:UnspecifiedMatching OMIM:603934 CARM1 skos:exactMatch hgnc.symbol:CARM1 semapv:UnspecifiedMatching OMIM:603934 CARM1 skos:exactMatch ncbigene:10498 semapv:UnspecifiedMatching OMIM:603935 psoriasis 4, susceptibility to skos:exactMatch MONDO:0011387 semapv:UnspecifiedMatching +OMIM:603935 psoriasis 4, susceptibility to skos:exactMatch hgnc.symbol:PSORS4 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch UMLS:C1415032 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch UMLS:C5436851 semapv:UnspecifiedMatching OMIM:603936 GDF11 skos:exactMatch hgnc.symbol:4216 semapv:UnspecifiedMatching @@ -37862,6 +38234,7 @@ OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:6145 semapv:UnspecifiedMatching OMIM:603963 ITGA9 skos:exactMatch hgnc.symbol:ITGA9 semapv:UnspecifiedMatching OMIM:603963 ITGA9 skos:exactMatch ncbigene:3680 semapv:UnspecifiedMatching OMIM:603964 deafness, autosomal dominant 16 skos:exactMatch MONDO:0011389 semapv:UnspecifiedMatching +OMIM:603964 deafness, autosomal dominant 16 skos:exactMatch hgnc.symbol:DFNA16 semapv:UnspecifiedMatching OMIM:603965 focal segmental glomerulosclerosis 2 skos:exactMatch MONDO:0011390 semapv:UnspecifiedMatching OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:386 semapv:UnspecifiedMatching OMIM:603966 AKR1C3 skos:exactMatch hgnc.symbol:AKR1C3 semapv:UnspecifiedMatching @@ -38114,6 +38487,7 @@ OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:5200 semapv:UnspecifiedMatching OMIM:604059 HS3ST4 skos:exactMatch hgnc.symbol:HS3ST4 semapv:UnspecifiedMatching OMIM:604059 HS3ST4 skos:exactMatch ncbigene:9951 semapv:UnspecifiedMatching OMIM:604060 deafness, autosomal recessive 20 skos:exactMatch MONDO:0011392 semapv:UnspecifiedMatching +OMIM:604060 deafness, autosomal recessive 20 skos:exactMatch hgnc.symbol:DFNB20 semapv:UnspecifiedMatching OMIM:604061 SEPTIN9 skos:exactMatch hgnc.symbol:7323 semapv:UnspecifiedMatching OMIM:604061 SEPTIN9 skos:exactMatch hgnc.symbol:SEPTIN9 semapv:UnspecifiedMatching OMIM:604061 SEPTIN9 skos:exactMatch ncbigene:10801 semapv:UnspecifiedMatching @@ -38471,6 +38845,7 @@ OMIM:604184 PUNC skos:exactMatch hgnc.symbol:9700 semapv:UnspecifiedMatching OMIM:604184 PUNC skos:exactMatch hgnc.symbol:IGDCC3 semapv:UnspecifiedMatching OMIM:604184 PUNC skos:exactMatch ncbigene:9543 semapv:UnspecifiedMatching OMIM:604185 facial paresis, hereditary congenital, 2 skos:exactMatch MONDO:0011407 semapv:UnspecifiedMatching +OMIM:604185 facial paresis, hereditary congenital, 2 skos:exactMatch hgnc.symbol:MBS3 semapv:UnspecifiedMatching OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:10640 semapv:UnspecifiedMatching OMIM:604186 CXCL14 skos:exactMatch hgnc.symbol:CXCL14 semapv:UnspecifiedMatching OMIM:604186 CXCL14 skos:exactMatch ncbigene:9547 semapv:UnspecifiedMatching @@ -38509,6 +38884,7 @@ OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:10874 semapv:UnspecifiedMatchin OMIM:604200 SIGLEC5 skos:exactMatch hgnc.symbol:SIGLEC5 semapv:UnspecifiedMatching OMIM:604200 SIGLEC5 skos:exactMatch ncbigene:8778 semapv:UnspecifiedMatching OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection skos:exactMatch MONDO:0011409 semapv:UnspecifiedMatching +OMIM:604201 hepatic fibrosis, severe, susceptibility to, due to schistosoma mansoni infection skos:exactMatch hgnc.symbol:SM2 semapv:UnspecifiedMatching OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:11133 semapv:UnspecifiedMatching OMIM:604202 SNAP29 skos:exactMatch hgnc.symbol:SNAP29 semapv:UnspecifiedMatching OMIM:604202 SNAP29 skos:exactMatch ncbigene:9342 semapv:UnspecifiedMatching @@ -38638,6 +39014,7 @@ OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:2456 semapv:UnspecifiedMatching OMIM:604253 CSNK1G3 skos:exactMatch hgnc.symbol:CSNK1G3 semapv:UnspecifiedMatching OMIM:604253 CSNK1G3 skos:exactMatch ncbigene:1456 semapv:UnspecifiedMatching OMIM:604254 dyslexia, susceptibility to, 3 skos:exactMatch MONDO:0011418 semapv:UnspecifiedMatching +OMIM:604254 dyslexia, susceptibility to, 3 skos:exactMatch hgnc.symbol:DYX3 semapv:UnspecifiedMatching OMIM:604255 LBX1 skos:exactMatch UMLS:C1825796 semapv:UnspecifiedMatching OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:16960 semapv:UnspecifiedMatching OMIM:604255 LBX1 skos:exactMatch hgnc.symbol:LBX1 semapv:UnspecifiedMatching @@ -38737,6 +39114,7 @@ OMIM:604285 AGXT skos:exactMatch ncbigene:189 semapv:UnspecifiedMatching OMIM:604286 muscular dystrophy, limb-girdle, autosomal recessive 4 skos:exactMatch MONDO:0011423 semapv:UnspecifiedMatching OMIM:604287 carney triad skos:exactMatch MONDO:0011424 semapv:UnspecifiedMatching OMIM:604288 cardiomyopathy, dilated, 1h skos:exactMatch MONDO:0011425 semapv:UnspecifiedMatching +OMIM:604288 cardiomyopathy, dilated, 1h skos:exactMatch hgnc.symbol:CMD1H semapv:UnspecifiedMatching OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:17228 semapv:UnspecifiedMatching OMIM:604289 RAD54B skos:exactMatch hgnc.symbol:RAD54B semapv:UnspecifiedMatching OMIM:604289 RAD54B skos:exactMatch ncbigene:25788 semapv:UnspecifiedMatching @@ -38808,6 +39186,7 @@ OMIM:604313 GALK1 skos:exactMatch ncbigene:2584 semapv:UnspecifiedMatching OMIM:604314 blepharophimosis with facial and genital anomalies and impaired intellectual development skos:exactMatch MONDO:0011432 semapv:UnspecifiedMatching OMIM:604315 anemia, congenital hypoplastic, with multiple congenital anomalies/impaired intellectual development syndrome skos:exactMatch MONDO:0011433 semapv:UnspecifiedMatching OMIM:604316 psoriasis 5, susceptibility to skos:exactMatch MONDO:0011434 semapv:UnspecifiedMatching +OMIM:604316 psoriasis 5, susceptibility to skos:exactMatch hgnc.symbol:PSORS5 semapv:UnspecifiedMatching OMIM:604317 microcephaly 2, primary, autosomal recessive, with or without cortical malformations skos:exactMatch MONDO:0011435 semapv:UnspecifiedMatching OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:4661 semapv:UnspecifiedMatching OMIM:604318 GTF2IRD1 skos:exactMatch hgnc.symbol:GTF2IRD1 semapv:UnspecifiedMatching @@ -38836,6 +39215,7 @@ OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:11327 semapv:UnspecifiedMatching OMIM:604328 SSRP1 skos:exactMatch hgnc.symbol:SSRP1 semapv:UnspecifiedMatching OMIM:604328 SSRP1 skos:exactMatch ncbigene:6749 semapv:UnspecifiedMatching OMIM:604329 hypertension, essential, susceptibility to, 2 skos:exactMatch MONDO:0011440 semapv:UnspecifiedMatching +OMIM:604329 hypertension, essential, susceptibility to, 2 skos:exactMatch hgnc.symbol:HYT2 semapv:UnspecifiedMatching OMIM:604330 GRAP skos:exactMatch hgnc.symbol:4562 semapv:UnspecifiedMatching OMIM:604330 GRAP skos:exactMatch hgnc.symbol:GRAP semapv:UnspecifiedMatching OMIM:604330 GRAP skos:exactMatch ncbigene:10750 semapv:UnspecifiedMatching @@ -39021,6 +39401,7 @@ OMIM:604399 PPP1R1B skos:exactMatch hgnc.symbol:PPP1R1B semapv:UnspecifiedMatch OMIM:604399 PPP1R1B skos:exactMatch ncbigene:84152 semapv:UnspecifiedMatching OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 skos:exactMatch MONDO:0011459 semapv:UnspecifiedMatching OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 skos:exactMatch MONDO:0011460 semapv:UnspecifiedMatching +OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 skos:exactMatch hgnc.symbol:ARVD6 semapv:UnspecifiedMatching OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1539863 semapv:UnspecifiedMatching OMIM:604402 ST3GAL5 skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching OMIM:604402 ST3GAL5 skos:exactMatch hgnc.symbol:10872 semapv:UnspecifiedMatching @@ -39295,6 +39676,7 @@ OMIM:604497 NKIRAS2 skos:exactMatch hgnc.symbol:NKIRAS2 semapv:UnspecifiedMatch OMIM:604497 NKIRAS2 skos:exactMatch ncbigene:28511 semapv:UnspecifiedMatching OMIM:604498 amegakaryocytic thrombocytopenia, congenital, 1 skos:exactMatch MONDO:0800452 semapv:UnspecifiedMatching OMIM:604499 hyperlipidemia, familial combined, 2 skos:exactMatch MONDO:0011470 semapv:UnspecifiedMatching +OMIM:604499 hyperlipidemia, familial combined, 2 skos:exactMatch hgnc.symbol:HYPLIP2 semapv:UnspecifiedMatching OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:12309 semapv:UnspecifiedMatching OMIM:604500 ZNHIT3 skos:exactMatch hgnc.symbol:ZNHIT3 semapv:UnspecifiedMatching OMIM:604500 ZNHIT3 skos:exactMatch ncbigene:9326 semapv:UnspecifiedMatching @@ -39359,6 +39741,7 @@ OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:4563 semapv:UnspecifiedMatching OMIM:604518 GRAP2 skos:exactMatch hgnc.symbol:GRAP2 semapv:UnspecifiedMatching OMIM:604518 GRAP2 skos:exactMatch ncbigene:9402 semapv:UnspecifiedMatching OMIM:604519 inflammatory bowel disease 3 skos:exactMatch MONDO:0011471 semapv:UnspecifiedMatching +OMIM:604519 inflammatory bowel disease 3 skos:exactMatch hgnc.symbol:IBD3 semapv:UnspecifiedMatching OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:11930 semapv:UnspecifiedMatching OMIM:604520 TNFSF14 skos:exactMatch hgnc.symbol:TNFSF14 semapv:UnspecifiedMatching OMIM:604520 TNFSF14 skos:exactMatch ncbigene:8740 semapv:UnspecifiedMatching @@ -39441,6 +39824,7 @@ OMIM:604545 KPNA5 skos:exactMatch ncbigene:3841 semapv:UnspecifiedMatching OMIM:604546 TONSL skos:exactMatch hgnc.symbol:7801 semapv:UnspecifiedMatching OMIM:604546 TONSL skos:exactMatch hgnc.symbol:TONSL semapv:UnspecifiedMatching OMIM:604546 TONSL skos:exactMatch ncbigene:4796 semapv:UnspecifiedMatching +OMIM:604547 van der woude syndrome 1, modifier of skos:exactMatch hgnc.symbol:VWSM semapv:UnspecifiedMatching OMIM:604548 NFKBIE skos:exactMatch UMLS:C1417710 semapv:UnspecifiedMatching OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:7799 semapv:UnspecifiedMatching OMIM:604548 NFKBIE skos:exactMatch hgnc.symbol:NFKBIE semapv:UnspecifiedMatching @@ -39592,6 +39976,7 @@ OMIM:604593 KIF5C skos:exactMatch ncbigene:3800 semapv:UnspecifiedMatching OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:14312 semapv:UnspecifiedMatching OMIM:604594 CRIPT skos:exactMatch hgnc.symbol:CRIPT semapv:UnspecifiedMatching OMIM:604594 CRIPT skos:exactMatch ncbigene:9419 semapv:UnspecifiedMatching +OMIM:604595 cholesterol level quantitative trait locus 1 skos:exactMatch hgnc.symbol:CLQTL1 semapv:UnspecifiedMatching OMIM:604596 FBXW10B skos:exactMatch hgnc.symbol:14379 semapv:UnspecifiedMatching OMIM:604596 FBXW10B skos:exactMatch hgnc.symbol:FBXW10B semapv:UnspecifiedMatching OMIM:604596 FBXW10B skos:exactMatch ncbigene:374286 semapv:UnspecifiedMatching @@ -40212,9 +40597,11 @@ OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:17514 semapv:UnspecifiedMatching OMIM:604800 HOMER3 skos:exactMatch hgnc.symbol:HOMER3 semapv:UnspecifiedMatching OMIM:604800 HOMER3 skos:exactMatch ncbigene:9454 semapv:UnspecifiedMatching OMIM:604801 muscular dystrophy, congenital, 1b skos:exactMatch MONDO:0011486 semapv:UnspecifiedMatching +OMIM:604801 muscular dystrophy, congenital, 1b skos:exactMatch hgnc.symbol:MDC1B semapv:UnspecifiedMatching OMIM:604802 huntington disease-like 3 skos:exactMatch MONDO:0011487 semapv:UnspecifiedMatching OMIM:604802 huntington disease-like 3 skos:exactMatch Orphanet:157946 semapv:UnspecifiedMatching OMIM:604802 huntington disease-like 3 skos:exactMatch UMLS:C1858114 semapv:UnspecifiedMatching +OMIM:604802 huntington disease-like 3 skos:exactMatch hgnc.symbol:HDL3 semapv:UnspecifiedMatching OMIM:604803 DOP1B skos:exactMatch UMLS:C1876213 semapv:UnspecifiedMatching OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:1291 semapv:UnspecifiedMatching OMIM:604803 DOP1B skos:exactMatch hgnc.symbol:DOP1B semapv:UnspecifiedMatching @@ -40282,6 +40669,7 @@ OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:3660 semapv:UnspecifiedMatching OMIM:604826 FEZ2 skos:exactMatch hgnc.symbol:FEZ2 semapv:UnspecifiedMatching OMIM:604826 FEZ2 skos:exactMatch ncbigene:9637 semapv:UnspecifiedMatching OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch MONDO:0011491 semapv:UnspecifiedMatching +OMIM:604827 epilepsy, idiopathic generalized, susceptibility to, 7 skos:exactMatch hgnc.symbol:EJM2 semapv:UnspecifiedMatching OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:10646 semapv:UnspecifiedMatching OMIM:604828 XCL2 skos:exactMatch hgnc.symbol:XCL2 semapv:UnspecifiedMatching OMIM:604828 XCL2 skos:exactMatch ncbigene:6846 semapv:UnspecifiedMatching @@ -41378,6 +41766,7 @@ OMIM:605199 SFPQ skos:exactMatch ncbigene:6421 semapv:UnspecifiedMatching OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:4876 semapv:UnspecifiedMatching OMIM:605200 HERC3 skos:exactMatch hgnc.symbol:HERC3 semapv:UnspecifiedMatching OMIM:605200 HERC3 skos:exactMatch ncbigene:8916 semapv:UnspecifiedMatching +OMIM:605201 high density lipoprotein cholesterol level quantitative trait locus 14 skos:exactMatch hgnc.symbol:HDLCQ14 semapv:UnspecifiedMatching OMIM:605202 NANS skos:exactMatch hgnc.symbol:19237 semapv:UnspecifiedMatching OMIM:605202 NANS skos:exactMatch hgnc.symbol:NANS semapv:UnspecifiedMatching OMIM:605202 NANS skos:exactMatch ncbigene:54187 semapv:UnspecifiedMatching @@ -41449,6 +41838,7 @@ OMIM:605224 RRH skos:exactMatch hgnc.symbol:10450 semapv:UnspecifiedMatching OMIM:605224 RRH skos:exactMatch hgnc.symbol:RRH semapv:UnspecifiedMatching OMIM:605224 RRH skos:exactMatch ncbigene:10692 semapv:UnspecifiedMatching OMIM:605225 inflammatory bowel disease 7 skos:exactMatch MONDO:0011521 semapv:UnspecifiedMatching +OMIM:605225 inflammatory bowel disease 7 skos:exactMatch hgnc.symbol:IBD7 semapv:UnspecifiedMatching OMIM:605226 RERE skos:exactMatch hgnc.symbol:9965 semapv:UnspecifiedMatching OMIM:605226 RERE skos:exactMatch hgnc.symbol:RERE semapv:UnspecifiedMatching OMIM:605226 RERE skos:exactMatch ncbigene:473 semapv:UnspecifiedMatching @@ -41459,6 +41849,7 @@ OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:24217 semapv:UnspecifiedMatching OMIM:605228 CIR1 skos:exactMatch hgnc.symbol:CIR1 semapv:UnspecifiedMatching OMIM:605228 CIR1 skos:exactMatch ncbigene:9541 semapv:UnspecifiedMatching OMIM:605229 spastic paraplegia 14, autosomal recessive skos:exactMatch MONDO:0011522 semapv:UnspecifiedMatching +OMIM:605229 spastic paraplegia 14, autosomal recessive skos:exactMatch hgnc.symbol:SPG14 semapv:UnspecifiedMatching OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:11999 semapv:UnspecifiedMatching OMIM:605230 TP53BP1 skos:exactMatch hgnc.symbol:TP53BP1 semapv:UnspecifiedMatching OMIM:605230 TP53BP1 skos:exactMatch ncbigene:7158 semapv:UnspecifiedMatching @@ -41506,6 +41897,7 @@ OMIM:605243 LY96 skos:exactMatch hgnc.symbol:17156 semapv:UnspecifiedMatching OMIM:605243 LY96 skos:exactMatch hgnc.symbol:LY96 semapv:UnspecifiedMatching OMIM:605243 LY96 skos:exactMatch ncbigene:23643 semapv:UnspecifiedMatching OMIM:605244 carney complex, type 2 skos:exactMatch MONDO:0011525 semapv:UnspecifiedMatching +OMIM:605244 carney complex, type 2 skos:exactMatch hgnc.symbol:CNC2 semapv:UnspecifiedMatching OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:13812 semapv:UnspecifiedMatching OMIM:605245 SLC2A8 skos:exactMatch hgnc.symbol:SLC2A8 semapv:UnspecifiedMatching OMIM:605245 SLC2A8 skos:exactMatch ncbigene:29988 semapv:UnspecifiedMatching @@ -41644,6 +42036,7 @@ OMIM:605292 NT5M skos:exactMatch hgnc.symbol:15769 semapv:UnspecifiedMatching OMIM:605292 NT5M skos:exactMatch hgnc.symbol:NT5M semapv:UnspecifiedMatching OMIM:605292 NT5M skos:exactMatch ncbigene:56953 semapv:UnspecifiedMatching OMIM:605293 optic atrophy 4 skos:exactMatch MONDO:0011536 semapv:UnspecifiedMatching +OMIM:605293 optic atrophy 4 skos:exactMatch hgnc.symbol:OPA4 semapv:UnspecifiedMatching OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:6938 semapv:UnspecifiedMatching OMIM:605294 CHST6 skos:exactMatch hgnc.symbol:CHST6 semapv:UnspecifiedMatching OMIM:605294 CHST6 skos:exactMatch ncbigene:4166 semapv:UnspecifiedMatching @@ -41842,6 +42235,7 @@ OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:4092 semapv:UnspecifiedMatching OMIM:605363 GAD1 skos:exactMatch hgnc.symbol:GAD1 semapv:UnspecifiedMatching OMIM:605363 GAD1 skos:exactMatch ncbigene:2571 semapv:UnspecifiedMatching OMIM:605364 psoriasis 6, susceptibility to skos:exactMatch MONDO:0011542 semapv:UnspecifiedMatching +OMIM:605364 psoriasis 6, susceptibility to skos:exactMatch hgnc.symbol:PSORS6 semapv:UnspecifiedMatching OMIM:605365 skos:exactMatch MONDO:0011543 semapv:UnspecifiedMatching OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:17187 semapv:UnspecifiedMatching OMIM:605366 OLFM1 skos:exactMatch hgnc.symbol:OLFM1 semapv:UnspecifiedMatching @@ -41906,6 +42300,7 @@ OMIM:605387 cataract 31, multiple types skos:exactMatch MONDO:0011547 semapv:Un OMIM:605387 cataract 31, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:605387 cataract 31, multiple types skos:exactMatch UMLS:C1854311 semapv:UnspecifiedMatching OMIM:605388 cerebral palsy, ataxic, autosomal recessive skos:exactMatch MONDO:0011548 semapv:UnspecifiedMatching +OMIM:605388 cerebral palsy, ataxic, autosomal recessive skos:exactMatch hgnc.symbol:CPAT1 semapv:UnspecifiedMatching OMIM:605389 hypotrichosis 1 skos:exactMatch MONDO:0011549 semapv:UnspecifiedMatching OMIM:605389 hypotrichosis 1 skos:exactMatch Orphanet:55654 semapv:UnspecifiedMatching OMIM:605389 hypotrichosis 1 skos:exactMatch UMLS:C1854310 semapv:UnspecifiedMatching @@ -41994,6 +42389,7 @@ OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:16528 semapv:UnspecifiedMatching OMIM:605418 DKKL1 skos:exactMatch hgnc.symbol:DKKL1 semapv:UnspecifiedMatching OMIM:605418 DKKL1 skos:exactMatch ncbigene:27120 semapv:UnspecifiedMatching OMIM:605419 schizophrenia 10 skos:exactMatch MONDO:0011552 semapv:UnspecifiedMatching +OMIM:605419 schizophrenia 10 skos:exactMatch hgnc.symbol:SCZD10 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C1412373 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C1865044 semapv:UnspecifiedMatching OMIM:605420 ALX4 skos:exactMatch UMLS:C3150703 semapv:UnspecifiedMatching @@ -42129,7 +42525,9 @@ OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:5985 semapv:UnspecifiedMatching OMIM:605461 IL17RA skos:exactMatch hgnc.symbol:IL17RA semapv:UnspecifiedMatching OMIM:605461 IL17RA skos:exactMatch ncbigene:23765 semapv:UnspecifiedMatching OMIM:605462 basal cell carcinoma, susceptibility to, 1 skos:exactMatch MONDO:0011556 semapv:UnspecifiedMatching +OMIM:605462 basal cell carcinoma, susceptibility to, 1 skos:exactMatch hgnc.symbol:BCC1 semapv:UnspecifiedMatching OMIM:605463 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch MONDO:0011557 semapv:UnspecifiedMatching +OMIM:605463 radiation sensitivity/chromosome instability syndrome, autosomal dominant skos:exactMatch hgnc.symbol:RSCIS semapv:UnspecifiedMatching OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:49 semapv:UnspecifiedMatching OMIM:605464 ABCB8 skos:exactMatch hgnc.symbol:ABCB8 semapv:UnspecifiedMatching OMIM:605464 ABCB8 skos:exactMatch ncbigene:11194 semapv:UnspecifiedMatching @@ -42176,6 +42574,7 @@ OMIM:605478 SIGIRR skos:exactMatch hgnc.symbol:SIGIRR semapv:UnspecifiedMatchin OMIM:605478 SIGIRR skos:exactMatch ncbigene:59307 semapv:UnspecifiedMatching OMIM:605479 cholestasis, benign recurrent intrahepatic, 2 skos:exactMatch MONDO:0011559 semapv:UnspecifiedMatching OMIM:605480 systemic lupus erythematosus, susceptibility to, 3 skos:exactMatch MONDO:0011560 semapv:UnspecifiedMatching +OMIM:605480 systemic lupus erythematosus, susceptibility to, 3 skos:exactMatch hgnc.symbol:SLEB3 semapv:UnspecifiedMatching OMIM:605481 ASPM skos:exactMatch hgnc.symbol:19048 semapv:UnspecifiedMatching OMIM:605481 ASPM skos:exactMatch hgnc.symbol:ASPM semapv:UnspecifiedMatching OMIM:605481 ASPM skos:exactMatch ncbigene:259266 semapv:UnspecifiedMatching @@ -42308,6 +42707,7 @@ OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:24576 semapv:UnspecifiedMatching OMIM:605525 CDT1 skos:exactMatch hgnc.symbol:CDT1 semapv:UnspecifiedMatching OMIM:605525 CDT1 skos:exactMatch ncbigene:81620 semapv:UnspecifiedMatching OMIM:605526 alzheimer disease 6 skos:exactMatch MONDO:0011561 semapv:UnspecifiedMatching +OMIM:605526 alzheimer disease 6 skos:exactMatch hgnc.symbol:AD6 semapv:UnspecifiedMatching OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:6905 semapv:UnspecifiedMatching OMIM:605527 MAT2B skos:exactMatch hgnc.symbol:MAT2B semapv:UnspecifiedMatching OMIM:605527 MAT2B skos:exactMatch ncbigene:27430 semapv:UnspecifiedMatching @@ -42357,6 +42757,7 @@ OMIM:605542 IL36G skos:exactMatch hgnc.symbol:IL36G semapv:UnspecifiedMatching OMIM:605542 IL36G skos:exactMatch ncbigene:56300 semapv:UnspecifiedMatching OMIM:605543 parkinson disease 4, autosomal dominant skos:exactMatch MONDO:0011562 semapv:UnspecifiedMatching OMIM:605544 fibromatosis, gingival, 2 skos:exactMatch MONDO:0011563 semapv:UnspecifiedMatching +OMIM:605544 fibromatosis, gingival, 2 skos:exactMatch hgnc.symbol:GINGF2 semapv:UnspecifiedMatching OMIM:605545 CD163 skos:exactMatch hgnc.symbol:1631 semapv:UnspecifiedMatching OMIM:605545 CD163 skos:exactMatch hgnc.symbol:CD163 semapv:UnspecifiedMatching OMIM:605545 CD163 skos:exactMatch ncbigene:9332 semapv:UnspecifiedMatching @@ -42370,6 +42771,7 @@ OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:193 semapv:UnspecifiedMatching OMIM:605548 ADAM15 skos:exactMatch hgnc.symbol:ADAM15 semapv:UnspecifiedMatching OMIM:605548 ADAM15 skos:exactMatch ncbigene:8751 semapv:UnspecifiedMatching OMIM:605549 cone-rod dystrophy 8 skos:exactMatch MONDO:0011564 semapv:UnspecifiedMatching +OMIM:605549 cone-rod dystrophy 8 skos:exactMatch hgnc.symbol:CORD8 semapv:UnspecifiedMatching OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:15828 semapv:UnspecifiedMatching OMIM:605550 RASD1 skos:exactMatch hgnc.symbol:RASD1 semapv:UnspecifiedMatching OMIM:605550 RASD1 skos:exactMatch ncbigene:51655 semapv:UnspecifiedMatching @@ -42377,6 +42779,7 @@ OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:16859 semapv:UnspecifiedMatching OMIM:605551 NOS1AP skos:exactMatch hgnc.symbol:NOS1AP semapv:UnspecifiedMatching OMIM:605551 NOS1AP skos:exactMatch ncbigene:9722 semapv:UnspecifiedMatching OMIM:605552 abdominal obesity-metabolic syndrome 1 skos:exactMatch MONDO:0011565 semapv:UnspecifiedMatching +OMIM:605552 abdominal obesity-metabolic syndrome 1 skos:exactMatch hgnc.symbol:AOMS1 semapv:UnspecifiedMatching OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:14981 semapv:UnspecifiedMatching OMIM:605553 PAPOLA skos:exactMatch hgnc.symbol:PAPOLA semapv:UnspecifiedMatching OMIM:605553 PAPOLA skos:exactMatch ncbigene:10914 semapv:UnspecifiedMatching @@ -42442,6 +42845,7 @@ OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:9007 semapv:UnspecifiedMatching OMIM:605571 PIWIL1 skos:exactMatch hgnc.symbol:PIWIL1 semapv:UnspecifiedMatching OMIM:605571 PIWIL1 skos:exactMatch ncbigene:9271 semapv:UnspecifiedMatching OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:exactMatch MONDO:0011566 semapv:UnspecifiedMatching +OMIM:605572 abdominal obesity-metabolic syndrome quantitative trait locus 2 skos:exactMatch hgnc.symbol:AOMS2 semapv:UnspecifiedMatching OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:5212 semapv:UnspecifiedMatching OMIM:605573 HSD17B3 skos:exactMatch hgnc.symbol:HSD17B3 semapv:UnspecifiedMatching OMIM:605573 HSD17B3 skos:exactMatch ncbigene:3293 semapv:UnspecifiedMatching @@ -42470,6 +42874,7 @@ OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:15629 semapv:UnspecifiedMatching OMIM:605581 B3GNT2 skos:exactMatch hgnc.symbol:B3GNT2 semapv:UnspecifiedMatching OMIM:605581 B3GNT2 skos:exactMatch ncbigene:10678 semapv:UnspecifiedMatching OMIM:605582 cardiomyopathy, dilated, 1k skos:exactMatch MONDO:0011567 semapv:UnspecifiedMatching +OMIM:605582 cardiomyopathy, dilated, 1k skos:exactMatch hgnc.symbol:CMD1K semapv:UnspecifiedMatching OMIM:605583 deafness, autosomal dominant 25 skos:exactMatch MONDO:0011568 semapv:UnspecifiedMatching OMIM:605584 DHX38 skos:exactMatch UMLS:C1424825 semapv:UnspecifiedMatching OMIM:605584 DHX38 skos:exactMatch UMLS:C4748725 semapv:UnspecifiedMatching @@ -42514,6 +42919,7 @@ OMIM:605597 FOXL2 skos:exactMatch hgnc.symbol:FOXL2 semapv:UnspecifiedMatching OMIM:605597 FOXL2 skos:exactMatch ncbigene:668 semapv:UnspecifiedMatching OMIM:605598 type 1 diabetes mellitus 18 skos:exactMatch MONDO:0011572 semapv:UnspecifiedMatching OMIM:605598 type 1 diabetes mellitus 18 skos:exactMatch UMLS:C1854125 semapv:UnspecifiedMatching +OMIM:605598 type 1 diabetes mellitus 18 skos:exactMatch hgnc.symbol:IDDM18 semapv:UnspecifiedMatching OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:6737 semapv:UnspecifiedMatching OMIM:605599 LYPLA1 skos:exactMatch hgnc.symbol:LYPLA1 semapv:UnspecifiedMatching OMIM:605599 LYPLA1 skos:exactMatch ncbigene:10434 semapv:UnspecifiedMatching @@ -42640,6 +43046,7 @@ OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:11064 semapv:UnspecifiedMatching OMIM:605641 SLC7A6 skos:exactMatch hgnc.symbol:SLC7A6 semapv:UnspecifiedMatching OMIM:605641 SLC7A6 skos:exactMatch ncbigene:9057 semapv:UnspecifiedMatching OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia skos:exactMatch MONDO:0011578 semapv:UnspecifiedMatching +OMIM:605642 thyroid carcinoma, papillary, with papillary renal neoplasia skos:exactMatch hgnc.symbol:PTCPRN semapv:UnspecifiedMatching OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:6366 semapv:UnspecifiedMatching OMIM:605643 KLK5 skos:exactMatch hgnc.symbol:KLK5 semapv:UnspecifiedMatching OMIM:605643 KLK5 skos:exactMatch ncbigene:25818 semapv:UnspecifiedMatching @@ -42892,7 +43299,9 @@ OMIM:605725 PRX skos:exactMatch hgnc.symbol:PRX semapv:UnspecifiedMatching OMIM:605725 PRX skos:exactMatch ncbigene:57716 semapv:UnspecifiedMatching OMIM:605726 neuronopathy, distal hereditary motor, autosomal recessive 2 skos:exactMatch MONDO:0011585 semapv:UnspecifiedMatching OMIM:605727 otosclerosis 2 skos:exactMatch MONDO:0011586 semapv:UnspecifiedMatching +OMIM:605727 otosclerosis 2 skos:exactMatch hgnc.symbol:OTSC2 semapv:UnspecifiedMatching OMIM:605728 cataract 25 skos:exactMatch MONDO:0011587 semapv:UnspecifiedMatching +OMIM:605728 cataract 25 skos:exactMatch hgnc.symbol:CTRCT25 semapv:UnspecifiedMatching OMIM:605729 AKNA skos:exactMatch hgnc.symbol:24108 semapv:UnspecifiedMatching OMIM:605729 AKNA skos:exactMatch hgnc.symbol:AKNA semapv:UnspecifiedMatching OMIM:605729 AKNA skos:exactMatch ncbigene:80709 semapv:UnspecifiedMatching @@ -42921,6 +43330,7 @@ OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:13702 semapv:UnspecifiedMatching OMIM:605737 BIRC7 skos:exactMatch hgnc.symbol:BIRC7 semapv:UnspecifiedMatching OMIM:605737 BIRC7 skos:exactMatch ncbigene:79444 semapv:UnspecifiedMatching OMIM:605738 microphthalmia/coloboma 2 skos:exactMatch MONDO:0011589 semapv:UnspecifiedMatching +OMIM:605738 microphthalmia/coloboma 2 skos:exactMatch hgnc.symbol:MCOPCB2 semapv:UnspecifiedMatching OMIM:605739 KY skos:exactMatch hgnc.symbol:26576 semapv:UnspecifiedMatching OMIM:605739 KY skos:exactMatch hgnc.symbol:KY semapv:UnspecifiedMatching OMIM:605739 KY skos:exactMatch ncbigene:339855 semapv:UnspecifiedMatching @@ -42947,6 +43357,7 @@ OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:20797 semapv:UnspecifiedMatching OMIM:605745 CYBRD1 skos:exactMatch hgnc.symbol:CYBRD1 semapv:UnspecifiedMatching OMIM:605745 CYBRD1 skos:exactMatch ncbigene:79901 semapv:UnspecifiedMatching OMIM:605746 anisomastia skos:exactMatch MONDO:0011590 semapv:UnspecifiedMatching +OMIM:605746 anisomastia skos:exactMatch hgnc.symbol:ANMA semapv:UnspecifiedMatching OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:18640 semapv:UnspecifiedMatching OMIM:605747 LDLRAP1 skos:exactMatch hgnc.symbol:LDLRAP1 semapv:UnspecifiedMatching OMIM:605747 LDLRAP1 skos:exactMatch ncbigene:26119 semapv:UnspecifiedMatching @@ -42954,7 +43365,9 @@ OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:13815 semapv:UnspecifiedMatching OMIM:605748 BCO1 skos:exactMatch hgnc.symbol:BCO1 semapv:UnspecifiedMatching OMIM:605748 BCO1 skos:exactMatch ncbigene:53630 semapv:UnspecifiedMatching OMIM:605749 cataract 26, multiple types skos:exactMatch MONDO:0011591 semapv:UnspecifiedMatching +OMIM:605749 cataract 26, multiple types skos:exactMatch hgnc.symbol:CTPL1 semapv:UnspecifiedMatching OMIM:605750 exudative vitreoretinopathy 3 skos:exactMatch MONDO:0011592 semapv:UnspecifiedMatching +OMIM:605750 exudative vitreoretinopathy 3 skos:exactMatch hgnc.symbol:EVR3 semapv:UnspecifiedMatching OMIM:605751 seizures, benign familial infantile, 2 skos:exactMatch MONDO:0011593 semapv:UnspecifiedMatching OMIM:605752 HID1 skos:exactMatch hgnc.symbol:15736 semapv:UnspecifiedMatching OMIM:605752 HID1 skos:exactMatch hgnc.symbol:HID1 semapv:UnspecifiedMatching @@ -43043,6 +43456,7 @@ OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:13390 semapv:UnspecifiedMatching OMIM:605778 NIF3L1 skos:exactMatch hgnc.symbol:NIF3L1 semapv:UnspecifiedMatching OMIM:605778 NIF3L1 skos:exactMatch ncbigene:60491 semapv:UnspecifiedMatching OMIM:605779 nail disorder, nonsyndromic congenital, 7 skos:exactMatch MONDO:0011595 semapv:UnspecifiedMatching +OMIM:605779 nail disorder, nonsyndromic congenital, 7 skos:exactMatch hgnc.symbol:NDIC semapv:UnspecifiedMatching OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:9348 semapv:UnspecifiedMatching OMIM:605780 PRDM4 skos:exactMatch hgnc.symbol:PRDM4 semapv:UnspecifiedMatching OMIM:605780 PRDM4 skos:exactMatch ncbigene:11108 semapv:UnspecifiedMatching @@ -43117,6 +43531,7 @@ OMIM:605802 ZEB2 skos:exactMatch hgnc.symbol:ZEB2 semapv:UnspecifiedMatching OMIM:605802 ZEB2 skos:exactMatch ncbigene:9839 semapv:UnspecifiedMatching OMIM:605803 dermatitis, atopic, 2 skos:exactMatch MONDO:0011596 semapv:UnspecifiedMatching OMIM:605804 dermatitis, atopic, 3 skos:exactMatch MONDO:0011597 semapv:UnspecifiedMatching +OMIM:605804 dermatitis, atopic, 3 skos:exactMatch hgnc.symbol:ATOD3 semapv:UnspecifiedMatching OMIM:605805 dermatitis, atopic, 4 skos:exactMatch MONDO:0011598 semapv:UnspecifiedMatching OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:1766 semapv:UnspecifiedMatching OMIM:605806 CDH7 skos:exactMatch hgnc.symbol:CDH7 semapv:UnspecifiedMatching @@ -43152,6 +43567,7 @@ OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:10021 semapv:UnspecifiedMatching OMIM:605817 RIPK3 skos:exactMatch hgnc.symbol:RIPK3 semapv:UnspecifiedMatching OMIM:605817 RIPK3 skos:exactMatch ncbigene:11035 semapv:UnspecifiedMatching OMIM:605818 deafness, autosomal recessive 27 skos:exactMatch MONDO:0011602 semapv:UnspecifiedMatching +OMIM:605818 deafness, autosomal recessive 27 skos:exactMatch hgnc.symbol:DFNB27 semapv:UnspecifiedMatching OMIM:605819 PES1 skos:exactMatch hgnc.symbol:8848 semapv:UnspecifiedMatching OMIM:605819 PES1 skos:exactMatch hgnc.symbol:PES1 semapv:UnspecifiedMatching OMIM:605819 PES1 skos:exactMatch ncbigene:23481 semapv:UnspecifiedMatching @@ -43192,6 +43608,7 @@ OMIM:605832 ACSS2 skos:exactMatch UMLS:C1825842 semapv:UnspecifiedMatching OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:15814 semapv:UnspecifiedMatching OMIM:605832 ACSS2 skos:exactMatch hgnc.symbol:ACSS2 semapv:UnspecifiedMatching OMIM:605832 ACSS2 skos:exactMatch ncbigene:55902 semapv:UnspecifiedMatching +OMIM:605833 bone mineral density quantitative trait locus 2 skos:exactMatch hgnc.symbol:BMND2 semapv:UnspecifiedMatching OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:11874 semapv:UnspecifiedMatching OMIM:605834 TMOD4 skos:exactMatch hgnc.symbol:TMOD4 semapv:UnspecifiedMatching OMIM:605834 TMOD4 skos:exactMatch ncbigene:29765 semapv:UnspecifiedMatching @@ -43209,6 +43626,7 @@ OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:17384 semapv:UnspecifiedMatching OMIM:605840 RNF111 skos:exactMatch hgnc.symbol:RNF111 semapv:UnspecifiedMatching OMIM:605840 RNF111 skos:exactMatch ncbigene:54778 semapv:UnspecifiedMatching OMIM:605841 narcolepsy 2, susceptibility to skos:exactMatch MONDO:0011607 semapv:UnspecifiedMatching +OMIM:605841 narcolepsy 2, susceptibility to skos:exactMatch hgnc.symbol:NRCLP2 semapv:UnspecifiedMatching OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:11586 semapv:UnspecifiedMatching OMIM:605842 TBL2 skos:exactMatch hgnc.symbol:TBL2 semapv:UnspecifiedMatching OMIM:605842 TBL2 skos:exactMatch ncbigene:26608 semapv:UnspecifiedMatching @@ -43216,7 +43634,9 @@ OMIM:605843 PECR skos:exactMatch hgnc.symbol:18281 semapv:UnspecifiedMatching OMIM:605843 PECR skos:exactMatch hgnc.symbol:PECR semapv:UnspecifiedMatching OMIM:605843 PECR skos:exactMatch ncbigene:55825 semapv:UnspecifiedMatching OMIM:605844 dermatitis, atopic, 5 skos:exactMatch MONDO:0011608 semapv:UnspecifiedMatching +OMIM:605844 dermatitis, atopic, 5 skos:exactMatch hgnc.symbol:ATOD5 semapv:UnspecifiedMatching OMIM:605845 dermatitis, atopic, 6 skos:exactMatch MONDO:0011609 semapv:UnspecifiedMatching +OMIM:605845 dermatitis, atopic, 6 skos:exactMatch hgnc.symbol:ATOD6 semapv:UnspecifiedMatching OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:1005 semapv:UnspecifiedMatching OMIM:605846 BCL7B skos:exactMatch hgnc.symbol:BCL7B semapv:UnspecifiedMatching OMIM:605846 BCL7B skos:exactMatch ncbigene:9275 semapv:UnspecifiedMatching @@ -43413,6 +43833,7 @@ OMIM:605912 MEPE skos:exactMatch hgnc.symbol:13361 semapv:UnspecifiedMatching OMIM:605912 MEPE skos:exactMatch hgnc.symbol:MEPE semapv:UnspecifiedMatching OMIM:605912 MEPE skos:exactMatch ncbigene:56955 semapv:UnspecifiedMatching OMIM:605913 bleeding disorder, east texas type skos:exactMatch MONDO:0011615 semapv:UnspecifiedMatching +OMIM:605913 bleeding disorder, east texas type skos:exactMatch hgnc.symbol:BDET semapv:UnspecifiedMatching OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:18152 semapv:UnspecifiedMatching OMIM:605914 TNFRSF12A skos:exactMatch hgnc.symbol:TNFRSF12A semapv:UnspecifiedMatching OMIM:605914 TNFRSF12A skos:exactMatch ncbigene:51330 semapv:UnspecifiedMatching @@ -43479,6 +43900,7 @@ OMIM:605933 DCSTAMP skos:exactMatch hgnc.symbol:18549 semapv:UnspecifiedMatchin OMIM:605933 DCSTAMP skos:exactMatch hgnc.symbol:DCSTAMP semapv:UnspecifiedMatching OMIM:605933 DCSTAMP skos:exactMatch ncbigene:81501 semapv:UnspecifiedMatching OMIM:605934 holoprosencephaly 6 skos:exactMatch MONDO:0011616 semapv:UnspecifiedMatching +OMIM:605934 holoprosencephaly 6 skos:exactMatch hgnc.symbol:HPE6 semapv:UnspecifiedMatching OMIM:605935 arthropathy, erosive skos:exactMatch MONDO:0011617 semapv:UnspecifiedMatching OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:1053 semapv:UnspecifiedMatching OMIM:605936 BIN2 skos:exactMatch hgnc.symbol:BIN2 semapv:UnspecifiedMatching @@ -43574,6 +43996,7 @@ OMIM:605966 HNF4G skos:exactMatch ncbigene:3174 semapv:UnspecifiedMatching OMIM:605967 acropectoral syndrome skos:exactMatch MONDO:0011621 semapv:UnspecifiedMatching OMIM:605967 acropectoral syndrome skos:exactMatch Orphanet:85203 semapv:UnspecifiedMatching OMIM:605967 acropectoral syndrome skos:exactMatch UMLS:C1853812 semapv:UnspecifiedMatching +OMIM:605967 acropectoral syndrome skos:exactMatch hgnc.symbol:ACRPS semapv:UnspecifiedMatching OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:9977 semapv:UnspecifiedMatching OMIM:605968 RFPL1 skos:exactMatch hgnc.symbol:RFPL1 semapv:UnspecifiedMatching OMIM:605968 RFPL1 skos:exactMatch ncbigene:5988 semapv:UnspecifiedMatching @@ -43701,6 +44124,7 @@ OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:17149 semapv:UnspecifiedMatching OMIM:606011 VSIG2 skos:exactMatch hgnc.symbol:VSIG2 semapv:UnspecifiedMatching OMIM:606011 VSIG2 skos:exactMatch ncbigene:23584 semapv:UnspecifiedMatching OMIM:606012 deafness, autosomal dominant 18 skos:exactMatch MONDO:0011625 semapv:UnspecifiedMatching +OMIM:606012 deafness, autosomal dominant 18 skos:exactMatch hgnc.symbol:DFNA18 semapv:UnspecifiedMatching OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:13584 semapv:UnspecifiedMatching OMIM:606013 FBXO5 skos:exactMatch hgnc.symbol:FBXO5 semapv:UnspecifiedMatching OMIM:606013 FBXO5 skos:exactMatch ncbigene:26271 semapv:UnspecifiedMatching @@ -43770,6 +44194,7 @@ OMIM:606034 RNASEH2A skos:exactMatch UMLS:C1835912 semapv:UnspecifiedMatching OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:18518 semapv:UnspecifiedMatching OMIM:606034 RNASEH2A skos:exactMatch hgnc.symbol:RNASEH2A semapv:UnspecifiedMatching OMIM:606034 RNASEH2A skos:exactMatch ncbigene:10535 semapv:UnspecifiedMatching +OMIM:606035 fasting insulin level quantitative trait locus 1 skos:exactMatch hgnc.symbol:FIQTL1 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch UMLS:C1332115 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch UMLS:C4014708 semapv:UnspecifiedMatching OMIM:606036 ARNT2 skos:exactMatch hgnc.symbol:16876 semapv:UnspecifiedMatching @@ -43814,6 +44239,7 @@ OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:15505 semapv:UnspecifiedMatching OMIM:606048 MBOAT7 skos:exactMatch hgnc.symbol:MBOAT7 semapv:UnspecifiedMatching OMIM:606048 MBOAT7 skos:exactMatch ncbigene:79143 semapv:UnspecifiedMatching OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch MONDO:0011626 semapv:UnspecifiedMatching +OMIM:606049 acromegaloid features, overgrowth, cleft palate, and hernia skos:exactMatch hgnc.symbol:AOCH semapv:UnspecifiedMatching OMIM:606050 UBD skos:exactMatch hgnc.symbol:18795 semapv:UnspecifiedMatching OMIM:606050 UBD skos:exactMatch hgnc.symbol:UBD semapv:UnspecifiedMatching OMIM:606050 UBD skos:exactMatch ncbigene:10537 semapv:UnspecifiedMatching @@ -43914,6 +44340,7 @@ OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:11985 semapv:UnspecifiedMatching OMIM:606081 TOMM70 skos:exactMatch hgnc.symbol:TOMM70 semapv:UnspecifiedMatching OMIM:606081 TOMM70 skos:exactMatch ncbigene:9868 semapv:UnspecifiedMatching OMIM:606082 goiter, multinodular 3 skos:exactMatch MONDO:0011635 semapv:UnspecifiedMatching +OMIM:606082 goiter, multinodular 3 skos:exactMatch hgnc.symbol:MNG3 semapv:UnspecifiedMatching OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:30064 semapv:UnspecifiedMatching OMIM:606083 PBRM1 skos:exactMatch hgnc.symbol:PBRM1 semapv:UnspecifiedMatching OMIM:606083 PBRM1 skos:exactMatch ncbigene:55193 semapv:UnspecifiedMatching @@ -44053,6 +44480,7 @@ OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:16067 semapv:UnspecifiedMatching OMIM:606127 MYOCD skos:exactMatch hgnc.symbol:MYOCD semapv:UnspecifiedMatching OMIM:606127 MYOCD skos:exactMatch ncbigene:93649 semapv:UnspecifiedMatching OMIM:606129 diamond-blackfan anemia 2 skos:exactMatch MONDO:0011636 semapv:UnspecifiedMatching +OMIM:606129 diamond-blackfan anemia 2 skos:exactMatch hgnc.symbol:DBA2 semapv:UnspecifiedMatching OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:14646 semapv:UnspecifiedMatching OMIM:606130 RNF26 skos:exactMatch hgnc.symbol:RNF26 semapv:UnspecifiedMatching OMIM:606130 RNF26 skos:exactMatch ncbigene:79102 semapv:UnspecifiedMatching @@ -44194,6 +44622,7 @@ OMIM:606178 HHIP skos:exactMatch hgnc.symbol:14866 semapv:UnspecifiedMatching OMIM:606178 HHIP skos:exactMatch hgnc.symbol:HHIP semapv:UnspecifiedMatching OMIM:606178 HHIP skos:exactMatch ncbigene:64399 semapv:UnspecifiedMatching OMIM:606179 aneurysmal bone cysts skos:exactMatch MONDO:0018815 semapv:UnspecifiedMatching +OMIM:606179 aneurysmal bone cysts skos:exactMatch hgnc.symbol:ANBC semapv:UnspecifiedMatching OMIM:606180 EXOSC9 skos:exactMatch UMLS:C1539371 semapv:UnspecifiedMatching OMIM:606180 EXOSC9 skos:exactMatch UMLS:C4748058 semapv:UnspecifiedMatching OMIM:606180 EXOSC9 skos:exactMatch hgnc.symbol:9137 semapv:UnspecifiedMatching @@ -44217,6 +44646,7 @@ OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:30423 semapv:UnspecifiedMatching OMIM:606186 CACYBP skos:exactMatch hgnc.symbol:CACYBP semapv:UnspecifiedMatching OMIM:606186 CACYBP skos:exactMatch ncbigene:27101 semapv:UnspecifiedMatching OMIM:606187 alzheimer disease 7 skos:exactMatch MONDO:0011647 semapv:UnspecifiedMatching +OMIM:606187 alzheimer disease 7 skos:exactMatch hgnc.symbol:AD7 semapv:UnspecifiedMatching OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:206 semapv:UnspecifiedMatching OMIM:606188 ADAM28 skos:exactMatch hgnc.symbol:ADAM28 semapv:UnspecifiedMatching OMIM:606188 ADAM28 skos:exactMatch ncbigene:10863 semapv:UnspecifiedMatching @@ -44224,6 +44654,7 @@ OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:2359 semapv:UnspecifiedMatching OMIM:606189 CRIM1 skos:exactMatch hgnc.symbol:CRIM1 semapv:UnspecifiedMatching OMIM:606189 CRIM1 skos:exactMatch ncbigene:51232 semapv:UnspecifiedMatching OMIM:606190 meningioma, radiation-induced skos:exactMatch MONDO:0011648 semapv:UnspecifiedMatching +OMIM:606190 meningioma, radiation-induced skos:exactMatch hgnc.symbol:MNRI semapv:UnspecifiedMatching OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:17069 semapv:UnspecifiedMatching OMIM:606191 FNBP1 skos:exactMatch hgnc.symbol:FNBP1 semapv:UnspecifiedMatching OMIM:606191 FNBP1 skos:exactMatch ncbigene:23048 semapv:UnspecifiedMatching @@ -44309,6 +44740,7 @@ OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:14896 semapv:UnspecifiedMatching OMIM:606214 SPTBN4 skos:exactMatch hgnc.symbol:SPTBN4 semapv:UnspecifiedMatching OMIM:606214 SPTBN4 skos:exactMatch ncbigene:57731 semapv:UnspecifiedMatching OMIM:606215 atrioventricular septal defect skos:exactMatch MONDO:0859565 semapv:UnspecifiedMatching +OMIM:606215 atrioventricular septal defect skos:exactMatch hgnc.symbol:AVSD1 semapv:UnspecifiedMatching OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:14133 semapv:UnspecifiedMatching OMIM:606216 MSRB1 skos:exactMatch hgnc.symbol:MSRB1 semapv:UnspecifiedMatching OMIM:606216 MSRB1 skos:exactMatch ncbigene:51734 semapv:UnspecifiedMatching @@ -44390,11 +44822,13 @@ OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:13179 semapv:UnspecifiedMatching OMIM:606239 IKZF4 skos:exactMatch hgnc.symbol:IKZF4 semapv:UnspecifiedMatching OMIM:606239 IKZF4 skos:exactMatch ncbigene:64375 semapv:UnspecifiedMatching OMIM:606240 thyroid cancer, nonmedullary, 3 skos:exactMatch MONDO:0011653 semapv:UnspecifiedMatching +OMIM:606240 thyroid cancer, nonmedullary, 3 skos:exactMatch hgnc.symbol:NMTC3 semapv:UnspecifiedMatching OMIM:606241 DICER1 skos:exactMatch hgnc.symbol:17098 semapv:UnspecifiedMatching OMIM:606241 DICER1 skos:exactMatch hgnc.symbol:DICER1 semapv:UnspecifiedMatching OMIM:606241 DICER1 skos:exactMatch ncbigene:23405 semapv:UnspecifiedMatching OMIM:606242 kondoh syndrome skos:exactMatch MONDO:0011654 semapv:UnspecifiedMatching OMIM:606242 kondoh syndrome skos:exactMatch UMLS:C1853480 semapv:UnspecifiedMatching +OMIM:606242 kondoh syndrome skos:exactMatch hgnc.symbol:KONDS semapv:UnspecifiedMatching OMIM:606243 alveolar soft part sarcoma skos:exactMatch MONDO:0011655 semapv:UnspecifiedMatching OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:11358 semapv:UnspecifiedMatching OMIM:606244 STAM2 skos:exactMatch hgnc.symbol:STAM2 semapv:UnspecifiedMatching @@ -44433,6 +44867,9 @@ OMIM:606252 TIRAP skos:exactMatch ncbigene:114609 semapv:UnspecifiedMatching OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:17705 semapv:UnspecifiedMatching OMIM:606254 SELENOF skos:exactMatch hgnc.symbol:SELENOF semapv:UnspecifiedMatching OMIM:606254 SELENOF skos:exactMatch ncbigene:9403 semapv:UnspecifiedMatching +OMIM:606256 stature quantitative trait locus 2 skos:exactMatch hgnc.symbol:STQTL2 semapv:UnspecifiedMatching +OMIM:606257 stature quantitative trait locus 3 skos:exactMatch hgnc.symbol:STQTL3 semapv:UnspecifiedMatching +OMIM:606258 stature quantitative trait locus 4 skos:exactMatch hgnc.symbol:STQTL4 semapv:UnspecifiedMatching OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:17262 semapv:UnspecifiedMatching OMIM:606259 BRMS1 skos:exactMatch hgnc.symbol:BRMS1 semapv:UnspecifiedMatching OMIM:606259 BRMS1 skos:exactMatch ncbigene:25855 semapv:UnspecifiedMatching @@ -44443,6 +44880,7 @@ OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:8053 semapv:UnspecifiedMatching OMIM:606261 NUDT6 skos:exactMatch hgnc.symbol:NUDT6 semapv:UnspecifiedMatching OMIM:606261 NUDT6 skos:exactMatch ncbigene:11162 semapv:UnspecifiedMatching OMIM:606263 paget disease of bone 4 skos:exactMatch MONDO:0011656 semapv:UnspecifiedMatching +OMIM:606263 paget disease of bone 4 skos:exactMatch hgnc.symbol:PDB4 semapv:UnspecifiedMatching OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:14558 semapv:UnspecifiedMatching OMIM:606264 CLEC7A skos:exactMatch hgnc.symbol:CLEC7A semapv:UnspecifiedMatching OMIM:606264 CLEC7A skos:exactMatch ncbigene:64581 semapv:UnspecifiedMatching @@ -44503,6 +44941,7 @@ OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:9776 semapv:UnspecifiedMatching OMIM:606281 RAB38 skos:exactMatch hgnc.symbol:RAB38 semapv:UnspecifiedMatching OMIM:606281 RAB38 skos:exactMatch ncbigene:23682 semapv:UnspecifiedMatching OMIM:606282 deafness, autosomal dominant 24 skos:exactMatch MONDO:0011657 semapv:UnspecifiedMatching +OMIM:606282 deafness, autosomal dominant 24 skos:exactMatch hgnc.symbol:DFNA24 semapv:UnspecifiedMatching OMIM:606283 SORCS1 skos:exactMatch UMLS:C1539803 semapv:UnspecifiedMatching OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:16697 semapv:UnspecifiedMatching OMIM:606283 SORCS1 skos:exactMatch hgnc.symbol:SORCS1 semapv:UnspecifiedMatching @@ -44632,6 +45071,7 @@ OMIM:606323 CYFIP2 skos:exactMatch hgnc.symbol:CYFIP2 semapv:UnspecifiedMatchin OMIM:606323 CYFIP2 skos:exactMatch ncbigene:26999 semapv:UnspecifiedMatching OMIM:606324 parkinson disease 7, autosomal recessive early-onset skos:exactMatch MONDO:0011658 semapv:UnspecifiedMatching OMIM:606325 heterotaxy, visceral, 3, autosomal skos:exactMatch MONDO:0011659 semapv:UnspecifiedMatching +OMIM:606325 heterotaxy, visceral, 3, autosomal skos:exactMatch hgnc.symbol:HTX3 semapv:UnspecifiedMatching OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:10892 semapv:UnspecifiedMatching OMIM:606326 SIX6 skos:exactMatch hgnc.symbol:SIX6 semapv:UnspecifiedMatching OMIM:606326 SIX6 skos:exactMatch ncbigene:4990 semapv:UnspecifiedMatching @@ -44697,6 +45137,7 @@ OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:9580 semapv:UnspecifiedMatching OMIM:606347 PSTPIP1 skos:exactMatch hgnc.symbol:PSTPIP1 semapv:UnspecifiedMatching OMIM:606347 PSTPIP1 skos:exactMatch ncbigene:9051 semapv:UnspecifiedMatching OMIM:606348 inflammatory bowel disease 5 skos:exactMatch MONDO:0011661 semapv:UnspecifiedMatching +OMIM:606348 inflammatory bowel disease 5 skos:exactMatch hgnc.symbol:IBD5 semapv:UnspecifiedMatching OMIM:606349 gambling, pathologic skos:exactMatch MONDO:0011662 semapv:UnspecifiedMatching OMIM:606349 gambling, pathologic skos:exactMatch UMLS:C0030662 semapv:UnspecifiedMatching OMIM:606350 APTX skos:exactMatch hgnc.symbol:15984 semapv:UnspecifiedMatching @@ -45002,6 +45443,7 @@ OMIM:606450 NET1 skos:exactMatch hgnc.symbol:14592 semapv:UnspecifiedMatching OMIM:606450 NET1 skos:exactMatch hgnc.symbol:NET1 semapv:UnspecifiedMatching OMIM:606450 NET1 skos:exactMatch ncbigene:10276 semapv:UnspecifiedMatching OMIM:606451 deafness, autosomal dominant 30 skos:exactMatch MONDO:0011673 semapv:UnspecifiedMatching +OMIM:606451 deafness, autosomal dominant 30 skos:exactMatch hgnc.symbol:DFNA30 semapv:UnspecifiedMatching OMIM:606452 ZMAT3 skos:exactMatch hgnc.symbol:29983 semapv:UnspecifiedMatching OMIM:606452 ZMAT3 skos:exactMatch hgnc.symbol:ZMAT3 semapv:UnspecifiedMatching OMIM:606452 ZMAT3 skos:exactMatch ncbigene:64393 semapv:UnspecifiedMatching @@ -45026,6 +45468,7 @@ OMIM:606458 CSRNP1 skos:exactMatch ncbigene:64651 semapv:UnspecifiedMatching OMIM:606459 OGFR skos:exactMatch hgnc.symbol:15768 semapv:UnspecifiedMatching OMIM:606459 OGFR skos:exactMatch hgnc.symbol:OGFR semapv:UnspecifiedMatching OMIM:606459 OGFR skos:exactMatch ncbigene:11054 semapv:UnspecifiedMatching +OMIM:606460 longevity 2 skos:exactMatch hgnc.symbol:LGV2 semapv:UnspecifiedMatching OMIM:606461 TGS1 skos:exactMatch UMLS:C1869126 semapv:UnspecifiedMatching OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:17843 semapv:UnspecifiedMatching OMIM:606461 TGS1 skos:exactMatch hgnc.symbol:TGS1 semapv:UnspecifiedMatching @@ -45308,6 +45751,7 @@ OMIM:606552 episodic ataxia, type 4 skos:exactMatch MONDO:0011681 semapv:Unspec OMIM:606553 SLC9A3R2 skos:exactMatch hgnc.symbol:NHERF2 semapv:UnspecifiedMatching OMIM:606553 SLC9A3R2 skos:exactMatch ncbigene:9351 semapv:UnspecifiedMatching OMIM:606554 episodic ataxia, type 3 skos:exactMatch MONDO:0011682 semapv:UnspecifiedMatching +OMIM:606554 episodic ataxia, type 3 skos:exactMatch hgnc.symbol:EA3 semapv:UnspecifiedMatching OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:16288 semapv:UnspecifiedMatching OMIM:606555 TRIM9 skos:exactMatch hgnc.symbol:TRIM9 semapv:UnspecifiedMatching OMIM:606555 TRIM9 skos:exactMatch ncbigene:114088 semapv:UnspecifiedMatching @@ -45498,6 +45942,7 @@ OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without im OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 skos:exactMatch Orphanet:370980 semapv:UnspecifiedMatching OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 skos:exactMatch Orphanet:52428 semapv:UnspecifiedMatching OMIM:606612 muscular dystrophy-dystroglycanopathy (congenital with or without impaired intellectual development), type b, 5 skos:exactMatch UMLS:C1847759 semapv:UnspecifiedMatching +OMIM:606613 high density lipoprotein cholesterol level quantitative trait locus 1 skos:exactMatch hgnc.symbol:HDLCQ1 semapv:UnspecifiedMatching OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:9876 semapv:UnspecifiedMatching OMIM:606614 RASGRF2 skos:exactMatch hgnc.symbol:RASGRF2 semapv:UnspecifiedMatching OMIM:606614 RASGRF2 skos:exactMatch ncbigene:5924 semapv:UnspecifiedMatching @@ -45505,6 +45950,7 @@ OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:17113 semapv:UnspecifiedMatching OMIM:606615 HIF1AN skos:exactMatch hgnc.symbol:HIF1AN semapv:UnspecifiedMatching OMIM:606615 HIF1AN skos:exactMatch ncbigene:55662 semapv:UnspecifiedMatching OMIM:606616 dyslexia, susceptibility to, 6 skos:exactMatch MONDO:0011689 semapv:UnspecifiedMatching +OMIM:606616 dyslexia, susceptibility to, 6 skos:exactMatch hgnc.symbol:DYX6 semapv:UnspecifiedMatching OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:17007 semapv:UnspecifiedMatching OMIM:606618 DUSP14 skos:exactMatch hgnc.symbol:DUSP14 semapv:UnspecifiedMatching OMIM:606618 DUSP14 skos:exactMatch ncbigene:11072 semapv:UnspecifiedMatching @@ -45576,6 +46022,9 @@ OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:13780 semapv:UnspecifiedMatching OMIM:606639 GFM1 skos:exactMatch hgnc.symbol:GFM1 semapv:UnspecifiedMatching OMIM:606639 GFM1 skos:exactMatch ncbigene:85476 semapv:UnspecifiedMatching OMIM:606640 amyotrophic lateral sclerosis 3 skos:exactMatch MONDO:0011691 semapv:UnspecifiedMatching +OMIM:606640 amyotrophic lateral sclerosis 3 skos:exactMatch hgnc.symbol:ALS3 semapv:UnspecifiedMatching +OMIM:606641 body mass index quantitative trait locus 1 skos:exactMatch hgnc.symbol:BMIQ1 semapv:UnspecifiedMatching +OMIM:606643 body mass index quantitative trait locus 2 skos:exactMatch hgnc.symbol:BMIQ2 semapv:UnspecifiedMatching OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:17813 semapv:UnspecifiedMatching OMIM:606644 IGSF8 skos:exactMatch hgnc.symbol:IGSF8 semapv:UnspecifiedMatching OMIM:606644 IGSF8 skos:exactMatch ncbigene:93185 semapv:UnspecifiedMatching @@ -45624,6 +46073,7 @@ OMIM:606659 TIMM8B skos:exactMatch ncbigene:26521 semapv:UnspecifiedMatching OMIM:606660 melanoma, uveal, susceptibility to, 1 skos:exactMatch MONDO:0011695 semapv:UnspecifiedMatching OMIM:606661 melanoma, uveal, susceptibility to, 2 skos:exactMatch MONDO:0011696 semapv:UnspecifiedMatching OMIM:606662 waardenburg syndrome, type 2c skos:exactMatch MONDO:0011697 semapv:UnspecifiedMatching +OMIM:606662 waardenburg syndrome, type 2c skos:exactMatch hgnc.symbol:WS2C semapv:UnspecifiedMatching OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:6666 semapv:UnspecifiedMatching OMIM:606663 LOXL2 skos:exactMatch hgnc.symbol:LOXL2 semapv:UnspecifiedMatching OMIM:606663 LOXL2 skos:exactMatch ncbigene:4017 semapv:UnspecifiedMatching @@ -45639,6 +46089,7 @@ OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:4504 semapv:UnspecifiedMatching OMIM:606667 LGR5 skos:exactMatch hgnc.symbol:LGR5 semapv:UnspecifiedMatching OMIM:606667 LGR5 skos:exactMatch ncbigene:8549 semapv:UnspecifiedMatching OMIM:606668 inflammatory bowel disease 8 skos:exactMatch MONDO:0011699 semapv:UnspecifiedMatching +OMIM:606668 inflammatory bowel disease 8 skos:exactMatch hgnc.symbol:IBD8 semapv:UnspecifiedMatching OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:4029 semapv:UnspecifiedMatching OMIM:606669 FXYD5 skos:exactMatch hgnc.symbol:FXYD5 semapv:UnspecifiedMatching OMIM:606669 FXYD5 skos:exactMatch ncbigene:53827 semapv:UnspecifiedMatching @@ -45655,7 +46106,9 @@ OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:16297 semapv:UnspecifiedMatching OMIM:606673 UPB1 skos:exactMatch hgnc.symbol:UPB1 semapv:UnspecifiedMatching OMIM:606673 UPB1 skos:exactMatch ncbigene:51733 semapv:UnspecifiedMatching OMIM:606674 inflammatory bowel disease 6 skos:exactMatch MONDO:0011700 semapv:UnspecifiedMatching +OMIM:606674 inflammatory bowel disease 6 skos:exactMatch hgnc.symbol:IBD6 semapv:UnspecifiedMatching OMIM:606675 inflammatory bowel disease 4 skos:exactMatch MONDO:0011701 semapv:UnspecifiedMatching +OMIM:606675 inflammatory bowel disease 4 skos:exactMatch hgnc.symbol:IBD4 semapv:UnspecifiedMatching OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:18082 semapv:UnspecifiedMatching OMIM:606676 TRPV2 skos:exactMatch hgnc.symbol:TRPV2 semapv:UnspecifiedMatching OMIM:606676 TRPV2 skos:exactMatch ncbigene:51393 semapv:UnspecifiedMatching @@ -45696,6 +46149,7 @@ OMIM:606687 EIF2B4 skos:exactMatch hgnc.symbol:EIF2B4 semapv:UnspecifiedMatchin OMIM:606687 EIF2B4 skos:exactMatch ncbigene:8890 semapv:UnspecifiedMatching OMIM:606688 spongiform encephalopathy with neuropsychiatric features skos:exactMatch MONDO:0011703 semapv:UnspecifiedMatching OMIM:606689 glaucoma 1, open angle, B skos:exactMatch MONDO:0011704 semapv:UnspecifiedMatching +OMIM:606689 glaucoma 1, open angle, B skos:exactMatch hgnc.symbol:GLC1B semapv:UnspecifiedMatching OMIM:606690 lymphangioleiomyomatosis skos:exactMatch MONDO:0011705 semapv:UnspecifiedMatching OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:31951 semapv:UnspecifiedMatching OMIM:606691 CEACAM19 skos:exactMatch hgnc.symbol:CEACAM19 semapv:UnspecifiedMatching @@ -45749,6 +46203,7 @@ OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:16527 semapv:UnspecifiedMatching OMIM:606707 TMC2 skos:exactMatch hgnc.symbol:TMC2 semapv:UnspecifiedMatching OMIM:606707 TMC2 skos:exactMatch ncbigene:117532 semapv:UnspecifiedMatching OMIM:606708 split-hand/foot malformation 5 skos:exactMatch MONDO:0011709 semapv:UnspecifiedMatching +OMIM:606708 split-hand/foot malformation 5 skos:exactMatch hgnc.symbol:SHFM5 semapv:UnspecifiedMatching OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:9477 semapv:UnspecifiedMatching OMIM:606709 PRSS12 skos:exactMatch hgnc.symbol:PRSS12 semapv:UnspecifiedMatching OMIM:606709 PRSS12 skos:exactMatch ncbigene:8492 semapv:UnspecifiedMatching @@ -45756,7 +46211,9 @@ OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:6586 semapv:UnspecifiedMatching OMIM:606710 LHFPL6 skos:exactMatch hgnc.symbol:LHFPL6 semapv:UnspecifiedMatching OMIM:606710 LHFPL6 skos:exactMatch ncbigene:10186 semapv:UnspecifiedMatching OMIM:606711 specific language impairment 1 skos:exactMatch MONDO:0011710 semapv:UnspecifiedMatching +OMIM:606711 specific language impairment 1 skos:exactMatch hgnc.symbol:SLI1 semapv:UnspecifiedMatching OMIM:606712 specific language impairment 2 skos:exactMatch MONDO:0011711 semapv:UnspecifiedMatching +OMIM:606712 specific language impairment 2 skos:exactMatch hgnc.symbol:SLI2 semapv:UnspecifiedMatching OMIM:606713 van der woude syndrome 2 skos:exactMatch MONDO:0011712 semapv:UnspecifiedMatching OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:17278 semapv:UnspecifiedMatching OMIM:606714 PNRC1 skos:exactMatch hgnc.symbol:PNRC1 semapv:UnspecifiedMatching @@ -45917,6 +46374,8 @@ OMIM:606768 myopathy, distal, with anterior tibial onset skos:exactMatch MONDO:0 OMIM:606769 HELQ skos:exactMatch hgnc.symbol:18536 semapv:UnspecifiedMatching OMIM:606769 HELQ skos:exactMatch hgnc.symbol:HELQ semapv:UnspecifiedMatching OMIM:606769 HELQ skos:exactMatch ncbigene:113510 semapv:UnspecifiedMatching +OMIM:606770 adiponectin, serum level of, quantitative trait locus 2 skos:exactMatch hgnc.symbol:ADIPQTL2 semapv:UnspecifiedMatching +OMIM:606771 adiponectin, serum level of, quantitative trait locus 3 skos:exactMatch hgnc.symbol:ADIPQTL3 semapv:UnspecifiedMatching OMIM:606772 impaired intellectual development, obesity, mandibular prognathism, and eye and skin anomalies skos:exactMatch MONDO:0011722 semapv:UnspecifiedMatching OMIM:606773 hemifacial myohyperplasia skos:exactMatch MONDO:0011723 semapv:UnspecifiedMatching OMIM:606774 MIOX skos:exactMatch hgnc.symbol:14522 semapv:UnspecifiedMatching @@ -45958,7 +46417,10 @@ OMIM:606786 CD300C skos:exactMatch hgnc.symbol:19320 semapv:UnspecifiedMatching OMIM:606786 CD300C skos:exactMatch hgnc.symbol:CD300C semapv:UnspecifiedMatching OMIM:606786 CD300C skos:exactMatch ncbigene:10871 semapv:UnspecifiedMatching OMIM:606787 peripheral arterial occlusive disease 1 skos:exactMatch MONDO:0011726 semapv:UnspecifiedMatching +OMIM:606787 peripheral arterial occlusive disease 1 skos:exactMatch hgnc.symbol:PAOD1 semapv:UnspecifiedMatching OMIM:606788 anorexia nervosa, susceptibility to skos:exactMatch MONDO:0011727 semapv:UnspecifiedMatching +OMIM:606788 anorexia nervosa, susceptibility to skos:exactMatch hgnc.symbol:ANON1 semapv:UnspecifiedMatching +OMIM:606789 fetal hemoglobin quantitative trait locus 4 skos:exactMatch hgnc.symbol:HBFQTL4 semapv:UnspecifiedMatching OMIM:606790 CD300A skos:exactMatch hgnc.symbol:19319 semapv:UnspecifiedMatching OMIM:606790 CD300A skos:exactMatch hgnc.symbol:CD300A semapv:UnspecifiedMatching OMIM:606790 CD300A skos:exactMatch ncbigene:11314 semapv:UnspecifiedMatching @@ -46144,6 +46606,7 @@ OMIM:606850 MIPOL1 skos:exactMatch hgnc.symbol:MIPOL1 semapv:UnspecifiedMatchin OMIM:606850 MIPOL1 skos:exactMatch ncbigene:145282 semapv:UnspecifiedMatching OMIM:606851 cree impaired intellectual development syndrome skos:exactMatch MONDO:0011736 semapv:UnspecifiedMatching OMIM:606852 parkinson disease 10 skos:exactMatch MONDO:0011737 semapv:UnspecifiedMatching +OMIM:606852 parkinson disease 10 skos:exactMatch hgnc.symbol:PARK10 semapv:UnspecifiedMatching OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:862 semapv:UnspecifiedMatching OMIM:606853 ATP6V1G2 skos:exactMatch hgnc.symbol:ATP6V1G2 semapv:UnspecifiedMatching OMIM:606853 ATP6V1G2 skos:exactMatch ncbigene:534 semapv:UnspecifiedMatching @@ -46213,7 +46676,9 @@ OMIM:606873 HEXB skos:exactMatch hgnc.symbol:4879 semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch hgnc.symbol:HEXB semapv:UnspecifiedMatching OMIM:606873 HEXB skos:exactMatch ncbigene:3074 semapv:UnspecifiedMatching OMIM:606874 hirschsprung disease, susceptibility to, 6 skos:exactMatch MONDO:0011741 semapv:UnspecifiedMatching +OMIM:606874 hirschsprung disease, susceptibility to, 6 skos:exactMatch hgnc.symbol:HSCR6 semapv:UnspecifiedMatching OMIM:606875 hirschsprung disease, susceptibility to, 7 skos:exactMatch MONDO:0011742 semapv:UnspecifiedMatching +OMIM:606875 hirschsprung disease, susceptibility to, 7 skos:exactMatch hgnc.symbol:HSCR7 semapv:UnspecifiedMatching OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:9002 semapv:UnspecifiedMatching OMIM:606876 PITPNB skos:exactMatch hgnc.symbol:PITPNB semapv:UnspecifiedMatching OMIM:606876 PITPNB skos:exactMatch ncbigene:23760 semapv:UnspecifiedMatching @@ -46275,6 +46740,7 @@ OMIM:606893 vascular malformation, primary intraosseous skos:exactMatch MONDO:00 OMIM:606894 duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery skos:exactMatch MONDO:0011745 semapv:UnspecifiedMatching OMIM:606895 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch skos:exactMatch MONDO:0011746 semapv:UnspecifiedMatching OMIM:606896 dyslexia, susceptibility to, 5 skos:exactMatch MONDO:0011747 semapv:UnspecifiedMatching +OMIM:606896 dyslexia, susceptibility to, 5 skos:exactMatch hgnc.symbol:DYX5 semapv:UnspecifiedMatching OMIM:606897 LYST skos:exactMatch hgnc.symbol:1968 semapv:UnspecifiedMatching OMIM:606897 LYST skos:exactMatch hgnc.symbol:LYST semapv:UnspecifiedMatching OMIM:606897 LYST skos:exactMatch ncbigene:1130 semapv:UnspecifiedMatching @@ -46361,6 +46827,7 @@ OMIM:606926 LPAR5 skos:exactMatch ncbigene:57121 semapv:UnspecifiedMatching OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:14964 semapv:UnspecifiedMatching OMIM:606927 TAAR8 skos:exactMatch hgnc.symbol:TAAR8 semapv:UnspecifiedMatching OMIM:606927 TAAR8 skos:exactMatch ncbigene:83551 semapv:UnspecifiedMatching +OMIM:606928 bone mineral density quantitative trait locus 3 skos:exactMatch hgnc.symbol:BMND3 semapv:UnspecifiedMatching OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:19072 semapv:UnspecifiedMatching OMIM:606929 THOC3 skos:exactMatch hgnc.symbol:THOC3 semapv:UnspecifiedMatching OMIM:606929 THOC3 skos:exactMatch ncbigene:84321 semapv:UnspecifiedMatching @@ -46472,6 +46939,7 @@ OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:12738 semapv:UnspecifiedMatching OMIM:606962 WBP2 skos:exactMatch hgnc.symbol:WBP2 semapv:UnspecifiedMatching OMIM:606962 WBP2 skos:exactMatch ncbigene:23558 semapv:UnspecifiedMatching OMIM:606963 pulmonary disease, chronic obstructive skos:exactMatch MONDO:0005002 semapv:UnspecifiedMatching +OMIM:606963 pulmonary disease, chronic obstructive skos:exactMatch hgnc.symbol:COPD semapv:UnspecifiedMatching OMIM:606964 STK38 skos:exactMatch hgnc.symbol:17847 semapv:UnspecifiedMatching OMIM:606964 STK38 skos:exactMatch hgnc.symbol:STK38 semapv:UnspecifiedMatching OMIM:606964 STK38 skos:exactMatch ncbigene:11329 semapv:UnspecifiedMatching @@ -46491,6 +46959,7 @@ OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:15717 semapv:UnspecifiedMatching OMIM:606969 GEMIN4 skos:exactMatch hgnc.symbol:GEMIN4 semapv:UnspecifiedMatching OMIM:606969 GEMIN4 skos:exactMatch ncbigene:50628 semapv:UnspecifiedMatching OMIM:606972 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch MONDO:0011753 semapv:UnspecifiedMatching +OMIM:606972 epilepsy, idiopathic generalized, susceptibility to, 2 skos:exactMatch hgnc.symbol:EIG2 semapv:UnspecifiedMatching OMIM:606973 COG1 skos:exactMatch hgnc.symbol:6545 semapv:UnspecifiedMatching OMIM:606973 COG1 skos:exactMatch hgnc.symbol:COG1 semapv:UnspecifiedMatching OMIM:606973 COG1 skos:exactMatch ncbigene:9382 semapv:UnspecifiedMatching @@ -46561,6 +47030,7 @@ OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:19297 semapv:UnspecifiedMatching OMIM:606994 TNK2 skos:exactMatch hgnc.symbol:TNK2 semapv:UnspecifiedMatching OMIM:606994 TNK2 skos:exactMatch ncbigene:10188 semapv:UnspecifiedMatching OMIM:606995 senior-loken syndrome 3 skos:exactMatch MONDO:0011755 semapv:UnspecifiedMatching +OMIM:606995 senior-loken syndrome 3 skos:exactMatch hgnc.symbol:SLSN3 semapv:UnspecifiedMatching OMIM:606996 senior-loken syndrome 4 skos:exactMatch MONDO:0011756 semapv:UnspecifiedMatching OMIM:606997 C1D skos:exactMatch hgnc.symbol:29911 semapv:UnspecifiedMatching OMIM:606997 C1D skos:exactMatch hgnc.symbol:C1D semapv:UnspecifiedMatching @@ -46593,6 +47063,7 @@ OMIM:607003 TSLP skos:exactMatch hgnc.symbol:30743 semapv:UnspecifiedMatching OMIM:607003 TSLP skos:exactMatch hgnc.symbol:TSLP semapv:UnspecifiedMatching OMIM:607003 TSLP skos:exactMatch ncbigene:85480 semapv:UnspecifiedMatching OMIM:607004 brachydactyly, type a1, B skos:exactMatch MONDO:0011757 semapv:UnspecifiedMatching +OMIM:607004 brachydactyly, type a1, B skos:exactMatch hgnc.symbol:BDA1B semapv:UnspecifiedMatching OMIM:607005 GEMIN5 skos:exactMatch UMLS:C1426633 semapv:UnspecifiedMatching OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:20043 semapv:UnspecifiedMatching OMIM:607005 GEMIN5 skos:exactMatch hgnc.symbol:GEMIN5 semapv:UnspecifiedMatching @@ -46737,6 +47208,7 @@ OMIM:607051 STARD6 skos:exactMatch ncbigene:147323 semapv:UnspecifiedMatching OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:17034 semapv:UnspecifiedMatching OMIM:607052 TUSC2 skos:exactMatch hgnc.symbol:TUSC2 semapv:UnspecifiedMatching OMIM:607052 TUSC2 skos:exactMatch ncbigene:11334 semapv:UnspecifiedMatching +OMIM:607053 high density lipoprotein cholesterol level quantitative trait locus 2 skos:exactMatch hgnc.symbol:HDLCQ2 semapv:UnspecifiedMatching OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:8934 semapv:UnspecifiedMatching OMIM:607054 PHLDA3 skos:exactMatch hgnc.symbol:PHLDA3 semapv:UnspecifiedMatching OMIM:607054 PHLDA3 skos:exactMatch ncbigene:23612 semapv:UnspecifiedMatching @@ -46828,9 +47300,13 @@ OMIM:607083 NSD3 skos:exactMatch hgnc.symbol:NSD3 semapv:UnspecifiedMatching OMIM:607083 NSD3 skos:exactMatch ncbigene:54904 semapv:UnspecifiedMatching OMIM:607084 deafness, autosomal recessive 31 skos:exactMatch MONDO:0011767 semapv:UnspecifiedMatching OMIM:607085 myasthenia gravis with thymus hyperplasia skos:exactMatch MONDO:0011768 semapv:UnspecifiedMatching +OMIM:607085 myasthenia gravis with thymus hyperplasia skos:exactMatch hgnc.symbol:MYAS1 semapv:UnspecifiedMatching OMIM:607086 aortic aneurysm, familial thoracic 1 skos:exactMatch MONDO:0024559 semapv:UnspecifiedMatching +OMIM:607086 aortic aneurysm, familial thoracic 1 skos:exactMatch hgnc.symbol:AAT1 semapv:UnspecifiedMatching OMIM:607087 aortic aneurysm, familial thoracic 2 skos:exactMatch MONDO:0011770 semapv:UnspecifiedMatching +OMIM:607087 aortic aneurysm, familial thoracic 2 skos:exactMatch hgnc.symbol:AAT2 semapv:UnspecifiedMatching OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch MONDO:0011771 semapv:UnspecifiedMatching +OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 skos:exactMatch hgnc.symbol:SMAR semapv:UnspecifiedMatching OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:1587 semapv:UnspecifiedMatching OMIM:607089 CCNDBP1 skos:exactMatch hgnc.symbol:CCNDBP1 semapv:UnspecifiedMatching OMIM:607089 CCNDBP1 skos:exactMatch ncbigene:23582 semapv:UnspecifiedMatching @@ -46882,6 +47358,7 @@ OMIM:607106 HM13 skos:exactMatch hgnc.symbol:16435 semapv:UnspecifiedMatching OMIM:607106 HM13 skos:exactMatch hgnc.symbol:HM13 semapv:UnspecifiedMatching OMIM:607106 HM13 skos:exactMatch ncbigene:81502 semapv:UnspecifiedMatching OMIM:607107 nasopharyngeal carcinoma skos:exactMatch MONDO:0011775 semapv:UnspecifiedMatching +OMIM:607107 nasopharyngeal carcinoma skos:exactMatch hgnc.symbol:NPCA1 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C0003076 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C0009363 semapv:UnspecifiedMatching OMIM:607108 PAX6 skos:exactMatch UMLS:C0155299 semapv:UnspecifiedMatching @@ -46922,6 +47399,7 @@ OMIM:607114 ADAM33 skos:exactMatch hgnc.symbol:ADAM33 semapv:UnspecifiedMatchin OMIM:607114 ADAM33 skos:exactMatch ncbigene:80332 semapv:UnspecifiedMatching OMIM:607115 cinca syndrome skos:exactMatch MONDO:0011776 semapv:UnspecifiedMatching OMIM:607116 alzheimer disease 8 skos:exactMatch MONDO:0011777 semapv:UnspecifiedMatching +OMIM:607116 alzheimer disease 8 skos:exactMatch hgnc.symbol:AD8 semapv:UnspecifiedMatching OMIM:607117 MCPH1 skos:exactMatch UMLS:C1417075 semapv:UnspecifiedMatching OMIM:607117 MCPH1 skos:exactMatch UMLS:C1855081 semapv:UnspecifiedMatching OMIM:607117 MCPH1 skos:exactMatch hgnc.symbol:6954 semapv:UnspecifiedMatching @@ -46970,6 +47448,8 @@ OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch Orphanet:166024 semap OMIM:607131 al-gazali-bakalinova syndrome skos:exactMatch UMLS:C1846722 semapv:UnspecifiedMatching OMIM:607132 laryngeal atresia, encephalocele, and limb deformities skos:exactMatch MONDO:0011779 semapv:UnspecifiedMatching OMIM:607134 specific language impairment 3 skos:exactMatch MONDO:0011780 semapv:UnspecifiedMatching +OMIM:607134 specific language impairment 3 skos:exactMatch hgnc.symbol:SLI3 semapv:UnspecifiedMatching +OMIM:607135 creatinine clearance quantitative trait locus skos:exactMatch hgnc.symbol:CRCL semapv:UnspecifiedMatching OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch MONDO:0011781 semapv:UnspecifiedMatching OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch Orphanet:98759 semapv:UnspecifiedMatching OMIM:607136 spinocerebellar ataxia 17 skos:exactMatch UMLS:C1846707 semapv:UnspecifiedMatching @@ -47015,6 +47495,7 @@ OMIM:607151 moyamoya disease 2 skos:exactMatch MONDO:0011784 semapv:Unspecified OMIM:607151 moyamoya disease 2 skos:exactMatch Orphanet:2573 semapv:UnspecifiedMatching OMIM:607151 moyamoya disease 2 skos:exactMatch UMLS:C1846689 semapv:UnspecifiedMatching OMIM:607152 spastic paraplegia 19, autosomal dominant skos:exactMatch MONDO:0011785 semapv:UnspecifiedMatching +OMIM:607152 spastic paraplegia 19, autosomal dominant skos:exactMatch hgnc.symbol:SPG19 semapv:UnspecifiedMatching OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:23927 semapv:UnspecifiedMatching OMIM:607153 ITGB1BP1 skos:exactMatch hgnc.symbol:ITGB1BP1 semapv:UnspecifiedMatching OMIM:607153 ITGB1BP1 skos:exactMatch ncbigene:9270 semapv:UnspecifiedMatching @@ -47158,6 +47639,7 @@ OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:5047 semapv:UnspecifiedMatching OMIM:607201 HNRNPR skos:exactMatch hgnc.symbol:HNRNPR semapv:UnspecifiedMatching OMIM:607201 HNRNPR skos:exactMatch ncbigene:10236 semapv:UnspecifiedMatching OMIM:607202 celiac disease, susceptibility to, 5 skos:exactMatch MONDO:0011793 semapv:UnspecifiedMatching +OMIM:607202 celiac disease, susceptibility to, 5 skos:exactMatch hgnc.symbol:CELIAC5 semapv:UnspecifiedMatching OMIM:607203 SAV1 skos:exactMatch UMLS:C1425082 semapv:UnspecifiedMatching OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:17795 semapv:UnspecifiedMatching OMIM:607203 SAV1 skos:exactMatch hgnc.symbol:SAV1 semapv:UnspecifiedMatching @@ -47223,6 +47705,7 @@ OMIM:607220 CNTN6 skos:exactMatch hgnc.symbol:2176 semapv:UnspecifiedMatching OMIM:607220 CNTN6 skos:exactMatch hgnc.symbol:CNTN6 semapv:UnspecifiedMatching OMIM:607220 CNTN6 skos:exactMatch ncbigene:27255 semapv:UnspecifiedMatching OMIM:607221 epilepsy, partial, with pericentral spikes skos:exactMatch MONDO:0011796 semapv:UnspecifiedMatching +OMIM:607221 epilepsy, partial, with pericentral spikes skos:exactMatch hgnc.symbol:EPPS semapv:UnspecifiedMatching OMIM:607222 FBXO18 skos:exactMatch hgnc.symbol:13620 semapv:UnspecifiedMatching OMIM:607222 FBXO18 skos:exactMatch hgnc.symbol:FBH1 semapv:UnspecifiedMatching OMIM:607222 FBXO18 skos:exactMatch ncbigene:84893 semapv:UnspecifiedMatching @@ -47276,6 +47759,7 @@ OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:23024 semapv:UnspecifiedMatching OMIM:607238 COMMD1 skos:exactMatch hgnc.symbol:COMMD1 semapv:UnspecifiedMatching OMIM:607238 COMMD1 skos:exactMatch ncbigene:150684 semapv:UnspecifiedMatching OMIM:607239 deafness, autosomal recessive 33 skos:exactMatch MONDO:0011799 semapv:UnspecifiedMatching +OMIM:607239 deafness, autosomal recessive 33 skos:exactMatch hgnc.symbol:DFNB33 semapv:UnspecifiedMatching OMIM:607240 KMT5A skos:exactMatch UMLS:C1822692 semapv:UnspecifiedMatching OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:29489 semapv:UnspecifiedMatching OMIM:607240 KMT5A skos:exactMatch hgnc.symbol:KMT5A semapv:UnspecifiedMatching @@ -47302,6 +47786,7 @@ OMIM:607247 CHODL skos:exactMatch hgnc.symbol:17807 semapv:UnspecifiedMatching OMIM:607247 CHODL skos:exactMatch hgnc.symbol:CHODL semapv:UnspecifiedMatching OMIM:607247 CHODL skos:exactMatch ncbigene:140578 semapv:UnspecifiedMatching OMIM:607248 glioma susceptibility 4 skos:exactMatch MONDO:0011800 semapv:UnspecifiedMatching +OMIM:607248 glioma susceptibility 4 skos:exactMatch hgnc.symbol:GLM4 semapv:UnspecifiedMatching OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:18810 semapv:UnspecifiedMatching OMIM:607249 CATSPER2 skos:exactMatch hgnc.symbol:CATSPER2 semapv:UnspecifiedMatching OMIM:607249 CATSPER2 skos:exactMatch ncbigene:117155 semapv:UnspecifiedMatching @@ -47333,6 +47818,7 @@ OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:16421 semapv:UnspecifiedMatching OMIM:607257 SOX6 skos:exactMatch hgnc.symbol:SOX6 semapv:UnspecifiedMatching OMIM:607257 SOX6 skos:exactMatch ncbigene:55553 semapv:UnspecifiedMatching OMIM:607258 hypercalciuria, absorptive, 1 skos:exactMatch MONDO:0011802 semapv:UnspecifiedMatching +OMIM:607258 hypercalciuria, absorptive, 1 skos:exactMatch hgnc.symbol:HCA1 semapv:UnspecifiedMatching OMIM:607259 spastic paraplegia 7, autosomal recessive skos:exactMatch MONDO:0011803 semapv:UnspecifiedMatching OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:30054 semapv:UnspecifiedMatching OMIM:607260 placental protein 13-like protein skos:exactMatch hgnc.symbol:LGALS14 semapv:UnspecifiedMatching @@ -47381,6 +47867,7 @@ OMIM:607275 HOPX skos:exactMatch ncbigene:84525 semapv:UnspecifiedMatching OMIM:607277 asthma-related traits, susceptibility to, 1 skos:exactMatch MONDO:0011805 semapv:UnspecifiedMatching OMIM:607278 osteofibrous dysplasia, susceptibility to skos:exactMatch MONDO:0011806 semapv:UnspecifiedMatching OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch MONDO:0011807 semapv:UnspecifiedMatching +OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 skos:exactMatch hgnc.symbol:SLEH1 semapv:UnspecifiedMatching OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:2174 semapv:UnspecifiedMatching OMIM:607280 CNTN4 skos:exactMatch hgnc.symbol:CNTN4 semapv:UnspecifiedMatching OMIM:607280 CNTN4 skos:exactMatch ncbigene:152330 semapv:UnspecifiedMatching @@ -47454,6 +47941,7 @@ OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:16989 semapv:UnspecifiedMatchin OMIM:607303 MORF4L1 skos:exactMatch hgnc.symbol:MORF4L1 semapv:UnspecifiedMatching OMIM:607303 MORF4L1 skos:exactMatch ncbigene:10933 semapv:UnspecifiedMatching OMIM:607304 cataract 27 skos:exactMatch MONDO:0011808 semapv:UnspecifiedMatching +OMIM:607304 cataract 27 skos:exactMatch hgnc.symbol:CTRCT27 semapv:UnspecifiedMatching OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:29633 semapv:UnspecifiedMatching OMIM:607305 mds2 gene skos:exactMatch hgnc.symbol:MDS2 semapv:UnspecifiedMatching OMIM:607305 mds2 gene skos:exactMatch ncbigene:259283 semapv:UnspecifiedMatching @@ -47505,6 +47993,7 @@ OMIM:607323 duane-radial ray syndrome skos:exactMatch Orphanet:959 semapv:Unspe OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C0751084 semapv:UnspecifiedMatching OMIM:607323 duane-radial ray syndrome skos:exactMatch UMLS:C1623209 semapv:UnspecifiedMatching OMIM:607324 polydactyly, postaxial, type a3 skos:exactMatch MONDO:0011813 semapv:UnspecifiedMatching +OMIM:607324 polydactyly, postaxial, type a3 skos:exactMatch hgnc.symbol:PAPA3 semapv:UnspecifiedMatching OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:14132 semapv:UnspecifiedMatching OMIM:607325 DOCK9 skos:exactMatch hgnc.symbol:DOCK9 semapv:UnspecifiedMatching OMIM:607325 DOCK9 skos:exactMatch ncbigene:23348 semapv:UnspecifiedMatching @@ -47517,6 +48006,7 @@ OMIM:607328 HEXIM1 skos:exactMatch hgnc.symbol:HEXIM1 semapv:UnspecifiedMatchin OMIM:607328 HEXIM1 skos:exactMatch ncbigene:10614 semapv:UnspecifiedMatching OMIM:607329 hypertension, essential, susceptibility to, 3 skos:exactMatch MONDO:0011815 semapv:UnspecifiedMatching OMIM:607329 hypertension, essential, susceptibility to, 3 skos:exactMatch UMLS:C1846430 semapv:UnspecifiedMatching +OMIM:607329 hypertension, essential, susceptibility to, 3 skos:exactMatch hgnc.symbol:HYT3 semapv:UnspecifiedMatching OMIM:607330 lathosterolosis skos:exactMatch MONDO:0011816 semapv:UnspecifiedMatching OMIM:607330 lathosterolosis skos:exactMatch Orphanet:46059 semapv:UnspecifiedMatching OMIM:607330 lathosterolosis skos:exactMatch UMLS:C1846421 semapv:UnspecifiedMatching @@ -47545,6 +48035,7 @@ OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:6555 semapv:UnspecifiedMatchin OMIM:607338 LEPROTL1 skos:exactMatch hgnc.symbol:LEPROTL1 semapv:UnspecifiedMatching OMIM:607338 LEPROTL1 skos:exactMatch ncbigene:23484 semapv:UnspecifiedMatching OMIM:607339 coronary heart disease, susceptibility to, 1 skos:exactMatch MONDO:0011817 semapv:UnspecifiedMatching +OMIM:607339 coronary heart disease, susceptibility to, 1 skos:exactMatch hgnc.symbol:CHDS1 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C1846414 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C1861063 semapv:UnspecifiedMatching OMIM:607340 GABBR2 skos:exactMatch UMLS:C4016025 semapv:UnspecifiedMatching @@ -47597,6 +48088,7 @@ OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:18757 semapv:UnspecifiedMatchin OMIM:607353 RHOBTB3 skos:exactMatch hgnc.symbol:RHOBTB3 semapv:UnspecifiedMatching OMIM:607353 RHOBTB3 skos:exactMatch ncbigene:22836 semapv:UnspecifiedMatching OMIM:607354 scoliosis, isolated, susceptibility to, 2 skos:exactMatch MONDO:0011820 semapv:UnspecifiedMatching +OMIM:607354 scoliosis, isolated, susceptibility to, 2 skos:exactMatch hgnc.symbol:IS2 semapv:UnspecifiedMatching OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:18421 semapv:UnspecifiedMatching OMIM:607355 AGO3 skos:exactMatch hgnc.symbol:AGO3 semapv:UnspecifiedMatching OMIM:607355 AGO3 skos:exactMatch ncbigene:192669 semapv:UnspecifiedMatching @@ -47646,6 +48138,7 @@ OMIM:607372 MED15 skos:exactMatch hgnc.symbol:14248 semapv:UnspecifiedMatching OMIM:607372 MED15 skos:exactMatch hgnc.symbol:MED15 semapv:UnspecifiedMatching OMIM:607372 MED15 skos:exactMatch ncbigene:51586 semapv:UnspecifiedMatching OMIM:607373 autism, susceptibility to, 8 skos:exactMatch MONDO:0011824 semapv:UnspecifiedMatching +OMIM:607373 autism, susceptibility to, 8 skos:exactMatch hgnc.symbol:AUTS8 semapv:UnspecifiedMatching OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:9440 semapv:UnspecifiedMatching OMIM:607374 PRKRIR skos:exactMatch hgnc.symbol:THAP12 semapv:UnspecifiedMatching OMIM:607374 PRKRIR skos:exactMatch ncbigene:5612 semapv:UnspecifiedMatching @@ -47764,6 +48257,7 @@ OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:19026 semapv:UnspecifiedMatching OMIM:607410 DMBX1 skos:exactMatch hgnc.symbol:DMBX1 semapv:UnspecifiedMatching OMIM:607410 DMBX1 skos:exactMatch ncbigene:127343 semapv:UnspecifiedMatching OMIM:607411 patent ductus arteriosus 1 skos:exactMatch MONDO:0024560 semapv:UnspecifiedMatching +OMIM:607411 patent ductus arteriosus 1 skos:exactMatch hgnc.symbol:PDA1 semapv:UnspecifiedMatching OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:15749 semapv:UnspecifiedMatching OMIM:607412 BPIFA1 skos:exactMatch hgnc.symbol:BPIFA1 semapv:UnspecifiedMatching OMIM:607412 BPIFA1 skos:exactMatch ncbigene:51297 semapv:UnspecifiedMatching @@ -47878,6 +48372,7 @@ OMIM:607444 SBDS skos:exactMatch ncbigene:51119 semapv:UnspecifiedMatching OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:16687 semapv:UnspecifiedMatching OMIM:607445 EIF4ENIF1 skos:exactMatch hgnc.symbol:EIF4ENIF1 semapv:UnspecifiedMatching OMIM:607445 EIF4ENIF1 skos:exactMatch ncbigene:56478 semapv:UnspecifiedMatching +OMIM:607446 body mass index quantitative trait locus 3 skos:exactMatch hgnc.symbol:BMIQ3 semapv:UnspecifiedMatching OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:17425 semapv:UnspecifiedMatching OMIM:607448 NPFFR1 skos:exactMatch hgnc.symbol:NPFFR1 semapv:UnspecifiedMatching OMIM:607448 NPFFR1 skos:exactMatch ncbigene:64106 semapv:UnspecifiedMatching @@ -47900,6 +48395,7 @@ OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:1983 semapv:UnspecifiedMatching OMIM:607456 UTP4 skos:exactMatch hgnc.symbol:UTP4 semapv:UnspecifiedMatching OMIM:607456 UTP4 skos:exactMatch ncbigene:84916 semapv:UnspecifiedMatching OMIM:607458 spinocerebellar ataxia 18 skos:exactMatch MONDO:0011834 semapv:UnspecifiedMatching +OMIM:607458 spinocerebellar ataxia 18 skos:exactMatch hgnc.symbol:SCA18 semapv:UnspecifiedMatching OMIM:607459 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:exactMatch MONDO:0011835 semapv:UnspecifiedMatching OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:17661 semapv:UnspecifiedMatching OMIM:607460 PLA1A skos:exactMatch hgnc.symbol:PLA1A semapv:UnspecifiedMatching @@ -47968,6 +48464,7 @@ OMIM:607484 PARD6A skos:exactMatch ncbigene:50855 semapv:UnspecifiedMatching OMIM:607485 frontotemporal dementia 2 skos:exactMatch MONDO:0011842 semapv:UnspecifiedMatching OMIM:607487 cardiomyopathy, familial hypertrophic, 25 skos:exactMatch MONDO:0011843 semapv:UnspecifiedMatching OMIM:607488 dystonia 15, myoclonic skos:exactMatch MONDO:0011844 semapv:UnspecifiedMatching +OMIM:607488 dystonia 15, myoclonic skos:exactMatch hgnc.symbol:DYT15 semapv:UnspecifiedMatching OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:15982 semapv:UnspecifiedMatching OMIM:607489 CUL9 skos:exactMatch hgnc.symbol:CUL9 semapv:UnspecifiedMatching OMIM:607489 CUL9 skos:exactMatch ncbigene:23113 semapv:UnspecifiedMatching @@ -47998,8 +48495,11 @@ OMIM:607497 B3GAT2 skos:exactMatch hgnc.symbol:B3GAT2 semapv:UnspecifiedMatchin OMIM:607497 B3GAT2 skos:exactMatch ncbigene:135152 semapv:UnspecifiedMatching OMIM:607498 migraine with or without aura, susceptibility to, 3 skos:exactMatch MONDO:0011845 semapv:UnspecifiedMatching OMIM:607498 migraine with or without aura, susceptibility to, 3 skos:exactMatch UMLS:C1843782 semapv:UnspecifiedMatching +OMIM:607498 migraine with or without aura, susceptibility to, 3 skos:exactMatch hgnc.symbol:MGR3 semapv:UnspecifiedMatching OMIM:607499 bulimia nervosa, susceptibility to skos:exactMatch MONDO:0011846 semapv:UnspecifiedMatching +OMIM:607499 bulimia nervosa, susceptibility to skos:exactMatch hgnc.symbol:BULN semapv:UnspecifiedMatching OMIM:607501 migraine without aura, susceptibility to, 4 skos:exactMatch MONDO:0011847 semapv:UnspecifiedMatching +OMIM:607501 migraine without aura, susceptibility to, 4 skos:exactMatch hgnc.symbol:MGR4 semapv:UnspecifiedMatching OMIM:607502 DISP1 skos:exactMatch UMLS:C1426351 semapv:UnspecifiedMatching OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:19711 semapv:UnspecifiedMatching OMIM:607502 DISP1 skos:exactMatch hgnc.symbol:DISP1 semapv:UnspecifiedMatching @@ -48017,6 +48517,7 @@ OMIM:607506 ADAMTS14 skos:exactMatch hgnc.symbol:ADAMTS14 semapv:UnspecifiedMat OMIM:607506 ADAMTS14 skos:exactMatch ncbigene:140766 semapv:UnspecifiedMatching OMIM:607507 psoriatic arthritis, susceptibility to skos:exactMatch MONDO:0100232 semapv:UnspecifiedMatching OMIM:607508 migraine with or without aura, susceptibility to, 5 skos:exactMatch MONDO:0011850 semapv:UnspecifiedMatching +OMIM:607508 migraine with or without aura, susceptibility to, 5 skos:exactMatch hgnc.symbol:MGR5 semapv:UnspecifiedMatching OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:16305 semapv:UnspecifiedMatching OMIM:607509 ADAMTS15 skos:exactMatch hgnc.symbol:ADAMTS15 semapv:UnspecifiedMatching OMIM:607509 ADAMTS15 skos:exactMatch ncbigene:170689 semapv:UnspecifiedMatching @@ -48039,6 +48540,7 @@ OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843765 semapv:UnspecifiedMatching OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch UMLS:C1843766 semapv:UnspecifiedMatching +OMIM:607516 migraine with or without aura, susceptibility to, 6 skos:exactMatch hgnc.symbol:MGR6 semapv:UnspecifiedMatching OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:15503 semapv:UnspecifiedMatching OMIM:607517 LILRA4 skos:exactMatch hgnc.symbol:LILRA4 semapv:UnspecifiedMatching OMIM:607517 LILRA4 skos:exactMatch ncbigene:23547 semapv:UnspecifiedMatching @@ -48228,6 +48730,7 @@ OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:20208 semapv:UnspecifiedMatching OMIM:607583 PEX11G skos:exactMatch hgnc.symbol:PEX11G semapv:UnspecifiedMatching OMIM:607583 PEX11G skos:exactMatch ncbigene:92960 semapv:UnspecifiedMatching OMIM:607584 spastic paraplegia 24, autosomal recessive skos:exactMatch MONDO:0011862 semapv:UnspecifiedMatching +OMIM:607584 spastic paraplegia 24, autosomal recessive skos:exactMatch hgnc.symbol:SPG24 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C0004135 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C0346153 semapv:UnspecifiedMatching OMIM:607585 ATM skos:exactMatch UMLS:C0740457 semapv:UnspecifiedMatching @@ -48266,6 +48769,7 @@ OMIM:607591 SGK3 skos:exactMatch hgnc.symbol:10812 semapv:UnspecifiedMatching OMIM:607591 SGK3 skos:exactMatch hgnc.symbol:SGK3 semapv:UnspecifiedMatching OMIM:607591 SGK3 skos:exactMatch ncbigene:23678 semapv:UnspecifiedMatching OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:exactMatch MONDO:0011863 semapv:UnspecifiedMatching +OMIM:607592 prostate cancer aggressiveness quantitative trait locus on chromosome 19 skos:exactMatch hgnc.symbol:HPCQTL19 semapv:UnspecifiedMatching OMIM:607593 MDC1 skos:exactMatch hgnc.symbol:21163 semapv:UnspecifiedMatching OMIM:607593 MDC1 skos:exactMatch hgnc.symbol:MDC1 semapv:UnspecifiedMatching OMIM:607593 MDC1 skos:exactMatch ncbigene:9656 semapv:UnspecifiedMatching @@ -48400,6 +48904,7 @@ OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:3960 semapv:UnspecifiedMatching OMIM:607643 FSCN2 skos:exactMatch hgnc.symbol:FSCN2 semapv:UnspecifiedMatching OMIM:607643 FSCN2 skos:exactMatch ncbigene:25794 semapv:UnspecifiedMatching OMIM:607644 candidiasis, familial, 3 skos:exactMatch MONDO:0011880 semapv:UnspecifiedMatching +OMIM:607644 candidiasis, familial, 3 skos:exactMatch hgnc.symbol:CANDN1 semapv:UnspecifiedMatching OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:18790 semapv:UnspecifiedMatching OMIM:607645 NSG1 skos:exactMatch hgnc.symbol:NSG1 semapv:UnspecifiedMatching OMIM:607645 NSG1 skos:exactMatch ncbigene:27065 semapv:UnspecifiedMatching @@ -48473,6 +48978,7 @@ OMIM:607670 STK33 skos:exactMatch hgnc.symbol:14568 semapv:UnspecifiedMatching OMIM:607670 STK33 skos:exactMatch hgnc.symbol:STK33 semapv:UnspecifiedMatching OMIM:607670 STK33 skos:exactMatch ncbigene:65975 semapv:UnspecifiedMatching OMIM:607671 dystonia 13, torsion, autosomal dominant skos:exactMatch MONDO:0011886 semapv:UnspecifiedMatching +OMIM:607671 dystonia 13, torsion, autosomal dominant skos:exactMatch hgnc.symbol:DYT13 semapv:UnspecifiedMatching OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:17412 semapv:UnspecifiedMatching OMIM:607672 CLCF1 skos:exactMatch hgnc.symbol:CLCF1 semapv:UnspecifiedMatching OMIM:607672 CLCF1 skos:exactMatch ncbigene:23529 semapv:UnspecifiedMatching @@ -48497,12 +49003,12 @@ OMIM:607680 ZNF363 skos:exactMatch hgnc.symbol:RCHY1 semapv:UnspecifiedMatching OMIM:607680 ZNF363 skos:exactMatch ncbigene:25898 semapv:UnspecifiedMatching OMIM:607681 febrile seizures, familial, 8 skos:exactMatch MONDO:0011891 semapv:UnspecifiedMatching OMIM:607682 epilepsy, idiopathic generalized, susceptibility to, 9 skos:exactMatch MONDO:0011892 semapv:UnspecifiedMatching -OMIM:607683 skos:exactMatch MONDO:0011893 semapv:UnspecifiedMatching OMIM:607684 charcot-marie-tooth disease, axonal, type 2e skos:exactMatch MONDO:0011894 semapv:UnspecifiedMatching OMIM:607685 hypereosinophilic syndrome, idiopathic skos:exactMatch MONDO:0011895 semapv:UnspecifiedMatching OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:19124 semapv:UnspecifiedMatching OMIM:607686 FIP1L1 skos:exactMatch hgnc.symbol:FIP1L1 semapv:UnspecifiedMatching OMIM:607686 FIP1L1 skos:exactMatch ncbigene:81608 semapv:UnspecifiedMatching +OMIM:607687 high density lipoprotein cholesterol level quantitative trait locus 3 skos:exactMatch hgnc.symbol:HDLC3 semapv:UnspecifiedMatching OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to skos:exactMatch MONDO:0011896 semapv:UnspecifiedMatching OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:10535 semapv:UnspecifiedMatching OMIM:607690 SAR1B skos:exactMatch hgnc.symbol:SAR1B semapv:UnspecifiedMatching @@ -48623,6 +49129,7 @@ OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:30688 semapv:UnspecifiedMatching OMIM:607727 CAND1 skos:exactMatch hgnc.symbol:CAND1 semapv:UnspecifiedMatching OMIM:607727 CAND1 skos:exactMatch ncbigene:55832 semapv:UnspecifiedMatching OMIM:607728 porokeratosis 4, disseminated superficial actinic type skos:exactMatch MONDO:0011900 semapv:UnspecifiedMatching +OMIM:607728 porokeratosis 4, disseminated superficial actinic type skos:exactMatch hgnc.symbol:POROK4 semapv:UnspecifiedMatching OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:24944 semapv:UnspecifiedMatching OMIM:607729 DDIT4 skos:exactMatch hgnc.symbol:DDIT4 semapv:UnspecifiedMatching OMIM:607729 DDIT4 skos:exactMatch ncbigene:54541 semapv:UnspecifiedMatching @@ -48630,6 +49137,7 @@ OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:30555 semapv:UnspecifiedMatching OMIM:607730 DDIT4L skos:exactMatch hgnc.symbol:DDIT4L semapv:UnspecifiedMatching OMIM:607730 DDIT4L skos:exactMatch ncbigene:115265 semapv:UnspecifiedMatching OMIM:607731 charcot-marie-tooth disease, axonal, type 2h skos:exactMatch MONDO:0011901 semapv:UnspecifiedMatching +OMIM:607731 charcot-marie-tooth disease, axonal, type 2h skos:exactMatch hgnc.symbol:CMT2H semapv:UnspecifiedMatching OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:17074 semapv:UnspecifiedMatching OMIM:607732 SARM1 skos:exactMatch hgnc.symbol:SARM1 semapv:UnspecifiedMatching OMIM:607732 SARM1 skos:exactMatch ncbigene:23098 semapv:UnspecifiedMatching @@ -48992,6 +49500,7 @@ OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:17046 semapv:UnspecifiedMatching OMIM:607852 NKD2 skos:exactMatch hgnc.symbol:NKD2 semapv:UnspecifiedMatching OMIM:607852 NKD2 skos:exactMatch ncbigene:85409 semapv:UnspecifiedMatching OMIM:607853 panic disorder 2 skos:exactMatch MONDO:0011924 semapv:UnspecifiedMatching +OMIM:607853 panic disorder 2 skos:exactMatch hgnc.symbol:PAND2 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C0339510 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C1826421 semapv:UnspecifiedMatching OMIM:607854 BEST1 skos:exactMatch UMLS:C2750789 semapv:UnspecifiedMatching @@ -49008,6 +49517,7 @@ OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:25931 semapv:UnspecifiedMatching OMIM:607856 CGNL1 skos:exactMatch hgnc.symbol:CGNL1 semapv:UnspecifiedMatching OMIM:607856 CGNL1 skos:exactMatch ncbigene:84952 semapv:UnspecifiedMatching OMIM:607857 psoriasis 9, susceptibility to skos:exactMatch MONDO:0011926 semapv:UnspecifiedMatching +OMIM:607857 psoriasis 9, susceptibility to skos:exactMatch hgnc.symbol:PSORS9 semapv:UnspecifiedMatching OMIM:607858 PARL skos:exactMatch hgnc.symbol:18253 semapv:UnspecifiedMatching OMIM:607858 PARL skos:exactMatch hgnc.symbol:PARL semapv:UnspecifiedMatching OMIM:607858 PARL skos:exactMatch ncbigene:55486 semapv:UnspecifiedMatching @@ -49111,6 +49621,7 @@ OMIM:607892 DSG4 skos:exactMatch hgnc.symbol:21307 semapv:UnspecifiedMatching OMIM:607892 DSG4 skos:exactMatch hgnc.symbol:DSG4 semapv:UnspecifiedMatching OMIM:607892 DSG4 skos:exactMatch ncbigene:147409 semapv:UnspecifiedMatching OMIM:607893 ovarian cancer, susceptibility to, 1 skos:exactMatch MONDO:0011931 semapv:UnspecifiedMatching +OMIM:607893 ovarian cancer, susceptibility to, 1 skos:exactMatch hgnc.symbol:OVCAS1 semapv:UnspecifiedMatching OMIM:607894 PKD1L2 skos:exactMatch hgnc.symbol:21715 semapv:UnspecifiedMatching OMIM:607894 PKD1L2 skos:exactMatch hgnc.symbol:PKD1L2 semapv:UnspecifiedMatching OMIM:607894 PKD1L2 skos:exactMatch ncbigene:114780 semapv:UnspecifiedMatching @@ -49261,6 +49772,7 @@ OMIM:607947 KCNRG skos:exactMatch hgnc.symbol:KCNRG semapv:UnspecifiedMatching OMIM:607947 KCNRG skos:exactMatch ncbigene:283518 semapv:UnspecifiedMatching OMIM:607948 mycobacterium tuberculosis, susceptibility to skos:exactMatch MONDO:0000070 semapv:UnspecifiedMatching OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch MONDO:0011941 semapv:UnspecifiedMatching +OMIM:607949 mycobacterium tuberculosis, susceptibility to, 1 skos:exactMatch hgnc.symbol:MTBS1 semapv:UnspecifiedMatching OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:17910 semapv:UnspecifiedMatching OMIM:607950 testis-specific protease 50 skos:exactMatch hgnc.symbol:PRSS50 semapv:UnspecifiedMatching OMIM:607950 testis-specific protease 50 skos:exactMatch ncbigene:29122 semapv:UnspecifiedMatching @@ -49313,8 +49825,11 @@ OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:18532 semapv:UnspecifiedMatching OMIM:607964 MBD3L2 skos:exactMatch hgnc.symbol:MBD3L2 semapv:UnspecifiedMatching OMIM:607964 MBD3L2 skos:exactMatch ncbigene:125997 semapv:UnspecifiedMatching OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch MONDO:0011942 semapv:UnspecifiedMatching +OMIM:607965 systemic lupus erythematosus with nephritis, susceptibility to, 1 skos:exactMatch hgnc.symbol:SLEN1 semapv:UnspecifiedMatching OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch MONDO:0011943 semapv:UnspecifiedMatching +OMIM:607966 systemic lupus erythematosus with nephritis, susceptibility to, 2 skos:exactMatch hgnc.symbol:SLEN2 semapv:UnspecifiedMatching OMIM:607967 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch MONDO:0011944 semapv:UnspecifiedMatching +OMIM:607967 systemic lupus erythematosus with nephritis, susceptibility to, 3 skos:exactMatch hgnc.symbol:SLEN3 semapv:UnspecifiedMatching OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:30000 semapv:UnspecifiedMatching OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch hgnc.symbol:BBS9 semapv:UnspecifiedMatching OMIM:607968 parathyroid hormone-responsive b1 gene skos:exactMatch ncbigene:27241 semapv:UnspecifiedMatching @@ -49505,18 +50020,23 @@ OMIM:608025 NBAS skos:exactMatch hgnc.symbol:15625 semapv:UnspecifiedMatching OMIM:608025 NBAS skos:exactMatch hgnc.symbol:NBAS semapv:UnspecifiedMatching OMIM:608025 NBAS skos:exactMatch ncbigene:51594 semapv:UnspecifiedMatching OMIM:608026 hypertensive nephropathy skos:exactMatch MONDO:0024633 semapv:UnspecifiedMatching +OMIM:608026 hypertensive nephropathy skos:exactMatch hgnc.symbol:HNP1 semapv:UnspecifiedMatching OMIM:608027 pontocerebellar hypoplasia, type 3 skos:exactMatch MONDO:0011948 semapv:UnspecifiedMatching OMIM:608028 thai symphalangism syndrome skos:exactMatch MONDO:0011949 semapv:UnspecifiedMatching OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 skos:exactMatch MONDO:0011950 semapv:UnspecifiedMatching +OMIM:608029 spinocerebellar ataxia, autosomal recessive 6 skos:exactMatch hgnc.symbol:CLA3 semapv:UnspecifiedMatching OMIM:608030 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia skos:exactMatch MONDO:0011951 semapv:UnspecifiedMatching OMIM:608031 amyotrophic lateral sclerosis 7 skos:exactMatch MONDO:0011952 semapv:UnspecifiedMatching +OMIM:608031 amyotrophic lateral sclerosis 7 skos:exactMatch hgnc.symbol:ALS7 semapv:UnspecifiedMatching OMIM:608033 encephalopathy, acute, infection-induced, susceptibility to, 3 skos:exactMatch MONDO:0011953 semapv:UnspecifiedMatching OMIM:608034 ASPA skos:exactMatch hgnc.symbol:756 semapv:UnspecifiedMatching OMIM:608034 ASPA skos:exactMatch hgnc.symbol:ASPA semapv:UnspecifiedMatching OMIM:608034 ASPA skos:exactMatch ncbigene:443 semapv:UnspecifiedMatching OMIM:608035 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch MONDO:0011954 semapv:UnspecifiedMatching +OMIM:608035 melanoma, cutaneous malignant, susceptibility to, 4 skos:exactMatch hgnc.symbol:CMM4 semapv:UnspecifiedMatching OMIM:608036 type 2 diabetes mellitus 4 skos:exactMatch MONDO:0011955 semapv:UnspecifiedMatching OMIM:608036 type 2 diabetes mellitus 4 skos:exactMatch UMLS:C1842642 semapv:UnspecifiedMatching +OMIM:608036 type 2 diabetes mellitus 4 skos:exactMatch hgnc.symbol:NIDDM4 semapv:UnspecifiedMatching OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:29270 semapv:UnspecifiedMatching OMIM:608037 CHPF2 skos:exactMatch hgnc.symbol:CHPF2 semapv:UnspecifiedMatching OMIM:608037 CHPF2 skos:exactMatch ncbigene:54480 semapv:UnspecifiedMatching @@ -49541,6 +50061,7 @@ OMIM:608043 GALNT10 skos:exactMatch ncbigene:55568 semapv:UnspecifiedMatching OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:19119 semapv:UnspecifiedMatching OMIM:608044 SLC5A8 skos:exactMatch hgnc.symbol:SLC5A8 semapv:UnspecifiedMatching OMIM:608044 SLC5A8 skos:exactMatch ncbigene:160728 semapv:UnspecifiedMatching +OMIM:608045 repressor of telomerase expression 1 skos:exactMatch hgnc.symbol:RTE1 semapv:UnspecifiedMatching OMIM:608046 SYVN1 skos:exactMatch UMLS:C1539907 semapv:UnspecifiedMatching OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:20738 semapv:UnspecifiedMatching OMIM:608046 SYVN1 skos:exactMatch hgnc.symbol:SYVN1 semapv:UnspecifiedMatching @@ -49552,6 +50073,7 @@ OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:19336 semapv:UnspecifiedMatching OMIM:608048 SHPRH skos:exactMatch hgnc.symbol:SHPRH semapv:UnspecifiedMatching OMIM:608048 SHPRH skos:exactMatch ncbigene:257218 semapv:UnspecifiedMatching OMIM:608049 autism, susceptibility to, 3 skos:exactMatch MONDO:0011956 semapv:UnspecifiedMatching +OMIM:608049 autism, susceptibility to, 3 skos:exactMatch hgnc.symbol:AUTS3 semapv:UnspecifiedMatching OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:11995 semapv:UnspecifiedMatching OMIM:608050 TOR1B skos:exactMatch hgnc.symbol:TOR1B semapv:UnspecifiedMatching OMIM:608050 TOR1B skos:exactMatch ncbigene:27348 semapv:UnspecifiedMatching @@ -49639,6 +50161,7 @@ OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:8538 semapv:UnspecifiedMatching OMIM:608077 P2RXL1 skos:exactMatch hgnc.symbol:P2RX6 semapv:UnspecifiedMatching OMIM:608077 P2RXL1 skos:exactMatch ncbigene:9127 semapv:UnspecifiedMatching OMIM:608078 schizophrenia 11 skos:exactMatch MONDO:0011960 semapv:UnspecifiedMatching +OMIM:608078 schizophrenia 11 skos:exactMatch hgnc.symbol:SCZD11 semapv:UnspecifiedMatching OMIM:608079 ELAC1 skos:exactMatch UMLS:C1422479 semapv:UnspecifiedMatching OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:14197 semapv:UnspecifiedMatching OMIM:608079 ELAC1 skos:exactMatch hgnc.symbol:ELAC1 semapv:UnspecifiedMatching @@ -49682,6 +50205,7 @@ OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:21872 semapv:UnspecifiedMatching OMIM:608087 GIMAP4 skos:exactMatch hgnc.symbol:GIMAP4 semapv:UnspecifiedMatching OMIM:608087 GIMAP4 skos:exactMatch ncbigene:55303 semapv:UnspecifiedMatching OMIM:608088 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux skos:exactMatch MONDO:0011961 semapv:UnspecifiedMatching +OMIM:608088 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux skos:exactMatch hgnc.symbol:HSN1B semapv:UnspecifiedMatching OMIM:608089 endometrial cancer skos:exactMatch MONDO:0011962 semapv:UnspecifiedMatching OMIM:608089 endometrial cancer skos:exactMatch UMLS:C0476089 semapv:UnspecifiedMatching OMIM:608090 MLXIP skos:exactMatch hgnc.symbol:17055 semapv:UnspecifiedMatching @@ -49700,8 +50224,10 @@ OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:23136 semapv:UnspecifiedMatching OMIM:608095 SCNM1 skos:exactMatch hgnc.symbol:SCNM1 semapv:UnspecifiedMatching OMIM:608095 SCNM1 skos:exactMatch ncbigene:79005 semapv:UnspecifiedMatching OMIM:608096 epilepsy, familial temporal lobe, 2 skos:exactMatch MONDO:0011965 semapv:UnspecifiedMatching +OMIM:608096 epilepsy, familial temporal lobe, 2 skos:exactMatch hgnc.symbol:ETL2 semapv:UnspecifiedMatching OMIM:608097 periventricular heterotopia with microcephaly, autosomal recessive skos:exactMatch MONDO:0011966 semapv:UnspecifiedMatching OMIM:608098 periventricular nodular heterotopia 3 skos:exactMatch MONDO:0011967 semapv:UnspecifiedMatching +OMIM:608098 periventricular nodular heterotopia 3 skos:exactMatch hgnc.symbol:PVNH3 semapv:UnspecifiedMatching OMIM:608099 muscular dystrophy, limb-girdle, autosomal recessive 3 skos:exactMatch MONDO:0011968 semapv:UnspecifiedMatching OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:16287 semapv:UnspecifiedMatching OMIM:608100 NFU1 skos:exactMatch hgnc.symbol:NFU1 semapv:UnspecifiedMatching @@ -49939,9 +50465,12 @@ OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:20603 semapv:UnspecifiedMatching OMIM:608172 DHDDS skos:exactMatch hgnc.symbol:DHDDS semapv:UnspecifiedMatching OMIM:608172 DHDDS skos:exactMatch ncbigene:79947 semapv:UnspecifiedMatching OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch MONDO:0011980 semapv:UnspecifiedMatching +OMIM:608173 autoimmune thyroid disease, susceptibility to, 1 skos:exactMatch hgnc.symbol:AITD1 semapv:UnspecifiedMatching OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch MONDO:0011981 semapv:UnspecifiedMatching +OMIM:608174 autoimmune thyroid disease, susceptibility to, 2 skos:exactMatch hgnc.symbol:AITD2 semapv:UnspecifiedMatching OMIM:608175 autoimmune thyroid disease, susceptibility to, 3 skos:exactMatch MONDO:0011982 semapv:UnspecifiedMatching OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch MONDO:0011983 semapv:UnspecifiedMatching +OMIM:608176 autoimmune thyroid disease, susceptibility to, 4 skos:exactMatch hgnc.symbol:AITD4 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C0008479 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C0015306 semapv:UnspecifiedMatching OMIM:608177 EXT1 skos:exactMatch UMLS:C0694878 semapv:UnspecifiedMatching @@ -50037,6 +50566,7 @@ OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:29427 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch hgnc.symbol:SH3TC2 semapv:UnspecifiedMatching OMIM:608206 SH3TC2 skos:exactMatch ncbigene:79628 semapv:UnspecifiedMatching OMIM:608207 kala-azar, susceptibility to, 1 skos:exactMatch MONDO:0021012 semapv:UnspecifiedMatching +OMIM:608207 kala-azar, susceptibility to, 1 skos:exactMatch hgnc.symbol:KAZA1 semapv:UnspecifiedMatching OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:29269 semapv:UnspecifiedMatching OMIM:608208 MARCHF4 skos:exactMatch hgnc.symbol:MARCHF4 semapv:UnspecifiedMatching OMIM:608208 MARCHF4 skos:exactMatch ncbigene:57574 semapv:UnspecifiedMatching @@ -50080,7 +50610,9 @@ OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:20412 semapv:UnspecifiedMatching OMIM:608218 KRT20 skos:exactMatch hgnc.symbol:KRT20 semapv:UnspecifiedMatching OMIM:608218 KRT20 skos:exactMatch ncbigene:54474 semapv:UnspecifiedMatching OMIM:608219 deafness, autosomal recessive 38 skos:exactMatch MONDO:0011991 semapv:UnspecifiedMatching +OMIM:608219 deafness, autosomal recessive 38 skos:exactMatch hgnc.symbol:DFNB38 semapv:UnspecifiedMatching OMIM:608220 spastic paraplegia 25, autosomal recessive skos:exactMatch MONDO:0011992 semapv:UnspecifiedMatching +OMIM:608220 spastic paraplegia 25, autosomal recessive skos:exactMatch hgnc.symbol:SPG25 semapv:UnspecifiedMatching OMIM:608221 MASTL skos:exactMatch hgnc.symbol:19042 semapv:UnspecifiedMatching OMIM:608221 MASTL skos:exactMatch hgnc.symbol:MASTL semapv:UnspecifiedMatching OMIM:608221 MASTL skos:exactMatch ncbigene:84930 semapv:UnspecifiedMatching @@ -50142,6 +50674,7 @@ OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:7677 semapv:UnspecifiedMatching OMIM:608243 NSMCE3 skos:exactMatch hgnc.symbol:NSMCE3 semapv:UnspecifiedMatching OMIM:608243 NSMCE3 skos:exactMatch ncbigene:56160 semapv:UnspecifiedMatching OMIM:608244 otosclerosis 3 skos:exactMatch MONDO:0011999 semapv:UnspecifiedMatching +OMIM:608244 otosclerosis 3 skos:exactMatch hgnc.symbol:OTSC3 semapv:UnspecifiedMatching OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:28927 semapv:UnspecifiedMatching OMIM:608245 KRT71 skos:exactMatch hgnc.symbol:KRT71 semapv:UnspecifiedMatching OMIM:608245 KRT71 skos:exactMatch ncbigene:112802 semapv:UnspecifiedMatching @@ -50161,6 +50694,7 @@ OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:29545 semapv:UnspecifiedMatching OMIM:608250 SUDS3 skos:exactMatch hgnc.symbol:SUDS3 semapv:UnspecifiedMatching OMIM:608250 SUDS3 skos:exactMatch ncbigene:64426 semapv:UnspecifiedMatching OMIM:608251 phobia, specific skos:exactMatch MONDO:0012000 semapv:UnspecifiedMatching +OMIM:608251 phobia, specific skos:exactMatch hgnc.symbol:PHOBS semapv:UnspecifiedMatching OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:24017 semapv:UnspecifiedMatching OMIM:608252 AFAP1 skos:exactMatch hgnc.symbol:AFAP1 semapv:UnspecifiedMatching OMIM:608252 AFAP1 skos:exactMatch ncbigene:60312 semapv:UnspecifiedMatching @@ -50201,6 +50735,7 @@ OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:16389 semapv:UnspecifiedMatchin OMIM:608263 HSPBAP1 skos:exactMatch hgnc.symbol:HSPBAP1 semapv:UnspecifiedMatching OMIM:608263 HSPBAP1 skos:exactMatch ncbigene:79663 semapv:UnspecifiedMatching OMIM:608264 deafness, autosomal recessive 40 skos:exactMatch MONDO:0012002 semapv:UnspecifiedMatching +OMIM:608264 deafness, autosomal recessive 40 skos:exactMatch hgnc.symbol:DFNB40 semapv:UnspecifiedMatching OMIM:608265 deafness, autosomal recessive 39 skos:exactMatch MONDO:0012003 semapv:UnspecifiedMatching OMIM:608266 parathyroid carcinoma skos:exactMatch MONDO:0012004 semapv:UnspecifiedMatching OMIM:608267 RRAGC skos:exactMatch hgnc.symbol:19902 semapv:UnspecifiedMatching @@ -50358,10 +50893,12 @@ OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:20907 semapv:UnspecifiedMatching OMIM:608315 EAF1 skos:exactMatch hgnc.symbol:EAF1 semapv:UnspecifiedMatching OMIM:608315 EAF1 skos:exactMatch ncbigene:85403 semapv:UnspecifiedMatching OMIM:608316 coronary heart disease, susceptibility to, 2 skos:exactMatch MONDO:0012009 semapv:UnspecifiedMatching +OMIM:608316 coronary heart disease, susceptibility to, 2 skos:exactMatch hgnc.symbol:CHDS2 semapv:UnspecifiedMatching OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:25839 semapv:UnspecifiedMatching OMIM:608317 GRHL3 skos:exactMatch hgnc.symbol:GRHL3 semapv:UnspecifiedMatching OMIM:608317 GRHL3 skos:exactMatch ncbigene:57822 semapv:UnspecifiedMatching OMIM:608318 coronary heart disease, susceptibility to, 4 skos:exactMatch MONDO:0012010 semapv:UnspecifiedMatching +OMIM:608318 coronary heart disease, susceptibility to, 4 skos:exactMatch hgnc.symbol:CHDS4 semapv:UnspecifiedMatching OMIM:608320 coronary artery disease, autosomal dominant, 1 skos:exactMatch MONDO:0012011 semapv:UnspecifiedMatching OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:21354 semapv:UnspecifiedMatching OMIM:608321 TICAM2 skos:exactMatch hgnc.symbol:TICAM2 semapv:UnspecifiedMatching @@ -50436,6 +50973,7 @@ OMIM:608344 HSPB9 skos:exactMatch hgnc.symbol:30589 semapv:UnspecifiedMatching OMIM:608344 HSPB9 skos:exactMatch hgnc.symbol:HSPB9 semapv:UnspecifiedMatching OMIM:608344 HSPB9 skos:exactMatch ncbigene:94086 semapv:UnspecifiedMatching OMIM:608345 nystagmus 3, congenital, autosomal dominant skos:exactMatch MONDO:0012015 semapv:UnspecifiedMatching +OMIM:608345 nystagmus 3, congenital, autosomal dominant skos:exactMatch hgnc.symbol:NYS3 semapv:UnspecifiedMatching OMIM:608347 DCXR skos:exactMatch hgnc.symbol:18985 semapv:UnspecifiedMatching OMIM:608347 DCXR skos:exactMatch hgnc.symbol:DCXR semapv:UnspecifiedMatching OMIM:608347 DCXR skos:exactMatch ncbigene:51181 semapv:UnspecifiedMatching @@ -50487,6 +51025,7 @@ OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:29213 semapv:UnspecifiedMatching OMIM:608366 CEMIP skos:exactMatch hgnc.symbol:CEMIP semapv:UnspecifiedMatching OMIM:608366 CEMIP skos:exactMatch ncbigene:57214 semapv:UnspecifiedMatching OMIM:608367 myopia 17, autosomal dominant skos:exactMatch MONDO:0012021 semapv:UnspecifiedMatching +OMIM:608367 myopia 17, autosomal dominant skos:exactMatch hgnc.symbol:MYP17 semapv:UnspecifiedMatching OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:21700 semapv:UnspecifiedMatching OMIM:608368 RAD9B skos:exactMatch hgnc.symbol:RAD9B semapv:UnspecifiedMatching OMIM:608368 RAD9B skos:exactMatch ncbigene:144715 semapv:UnspecifiedMatching @@ -50499,7 +51038,9 @@ OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:21088 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch hgnc.symbol:SCD5 semapv:UnspecifiedMatching OMIM:608370 SCD5 skos:exactMatch ncbigene:79966 semapv:UnspecifiedMatching OMIM:608371 orofacial cleft 4 skos:exactMatch MONDO:0012022 semapv:UnspecifiedMatching +OMIM:608371 orofacial cleft 4 skos:exactMatch hgnc.symbol:OFC4 semapv:UnspecifiedMatching OMIM:608372 deafness, autosomal dominant 49 skos:exactMatch MONDO:0012023 semapv:UnspecifiedMatching +OMIM:608372 deafness, autosomal dominant 49 skos:exactMatch hgnc.symbol:DFNA49 semapv:UnspecifiedMatching OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:11502 semapv:UnspecifiedMatching OMIM:608373 SYNGR4 skos:exactMatch hgnc.symbol:SYNGR4 semapv:UnspecifiedMatching OMIM:608373 SYNGR4 skos:exactMatch ncbigene:23546 semapv:UnspecifiedMatching @@ -50556,9 +51097,12 @@ OMIM:608389 branchiootic syndrome 3 skos:exactMatch Orphanet:52429 semapv:Unspe OMIM:608389 branchiootic syndrome 3 skos:exactMatch UMLS:C1842124 semapv:UnspecifiedMatching OMIM:608390 myotonia, potassium-aggravated skos:exactMatch MONDO:0018959 semapv:UnspecifiedMatching OMIM:608391 autoimmune disease, susceptibility to, 2 skos:exactMatch MONDO:0012027 semapv:UnspecifiedMatching +OMIM:608391 autoimmune disease, susceptibility to, 2 skos:exactMatch hgnc.symbol:AIS2 semapv:UnspecifiedMatching OMIM:608392 autoimmune disease, susceptibility to, 3 skos:exactMatch MONDO:0012028 semapv:UnspecifiedMatching +OMIM:608392 autoimmune disease, susceptibility to, 3 skos:exactMatch hgnc.symbol:AIS3 semapv:UnspecifiedMatching OMIM:608393 microcephaly 6, primary, autosomal recessive skos:exactMatch MONDO:0012029 semapv:UnspecifiedMatching OMIM:608394 deafness, autosomal dominant 43 skos:exactMatch MONDO:0012030 semapv:UnspecifiedMatching +OMIM:608394 deafness, autosomal dominant 43 skos:exactMatch hgnc.symbol:DFNA43 semapv:UnspecifiedMatching OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:20653 semapv:UnspecifiedMatching OMIM:608396 SLC9A9 skos:exactMatch hgnc.symbol:SLC9A9 semapv:UnspecifiedMatching OMIM:608396 SLC9A9 skos:exactMatch ncbigene:285195 semapv:UnspecifiedMatching @@ -50597,6 +51141,7 @@ OMIM:608408 DPPA3 skos:exactMatch ncbigene:359787 semapv:UnspecifiedMatching OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:29898 semapv:UnspecifiedMatching OMIM:608409 C15ORF48 skos:exactMatch hgnc.symbol:C15orf48 semapv:UnspecifiedMatching OMIM:608409 C15ORF48 skos:exactMatch ncbigene:84419 semapv:UnspecifiedMatching +OMIM:608410 body mass index quantitative trait locus 7 skos:exactMatch hgnc.symbol:BMIQ7 semapv:UnspecifiedMatching OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:19733 semapv:UnspecifiedMatching OMIM:608411 XPO6 skos:exactMatch hgnc.symbol:XPO6 semapv:UnspecifiedMatching OMIM:608411 XPO6 skos:exactMatch ncbigene:23214 semapv:UnspecifiedMatching @@ -50673,6 +51218,7 @@ OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:17845 semapv:UnspecifiedMatchin OMIM:608436 SULT1B1 skos:exactMatch hgnc.symbol:SULT1B1 semapv:UnspecifiedMatching OMIM:608436 SULT1B1 skos:exactMatch ncbigene:27284 semapv:UnspecifiedMatching OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch MONDO:0012036 semapv:UnspecifiedMatching +OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 skos:exactMatch hgnc.symbol:SLEB4 semapv:UnspecifiedMatching OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:11841 semapv:UnspecifiedMatching OMIM:608438 TLK1 skos:exactMatch hgnc.symbol:TLK1 semapv:UnspecifiedMatching OMIM:608438 TLK1 skos:exactMatch ncbigene:9874 semapv:UnspecifiedMatching @@ -50701,8 +51247,11 @@ OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:18541 semapv:UnspecifiedMatching OMIM:608444 KMT2E skos:exactMatch hgnc.symbol:KMT2E semapv:UnspecifiedMatching OMIM:608444 KMT2E skos:exactMatch ncbigene:55904 semapv:UnspecifiedMatching OMIM:608445 speech-sound disorder skos:exactMatch MONDO:0012038 semapv:UnspecifiedMatching +OMIM:608445 speech-sound disorder skos:exactMatch hgnc.symbol:SSD semapv:UnspecifiedMatching OMIM:608446 myocardial infarction, susceptibility to skos:exactMatch MONDO:0012039 semapv:UnspecifiedMatching +OMIM:608447 carotid intimal medial thickness 2 skos:exactMatch hgnc.symbol:CIMT semapv:UnspecifiedMatching OMIM:608448 inflammatory bowel disease 9 skos:exactMatch MONDO:0012040 semapv:UnspecifiedMatching +OMIM:608448 inflammatory bowel disease 9 skos:exactMatch hgnc.symbol:IBD9 semapv:UnspecifiedMatching OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:17662 semapv:UnspecifiedMatching OMIM:608449 PTBP2 skos:exactMatch hgnc.symbol:PTBP2 semapv:UnspecifiedMatching OMIM:608449 PTBP2 skos:exactMatch ncbigene:58155 semapv:UnspecifiedMatching @@ -50738,6 +51287,7 @@ OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:22986 semapv:UnspecifiedMatchin OMIM:608461 COL27A1 skos:exactMatch hgnc.symbol:COL27A1 semapv:UnspecifiedMatching OMIM:608461 COL27A1 skos:exactMatch ncbigene:85301 semapv:UnspecifiedMatching OMIM:608462 hirschsprung disease, susceptibility to, 8 skos:exactMatch MONDO:0012042 semapv:UnspecifiedMatching +OMIM:608462 hirschsprung disease, susceptibility to, 8 skos:exactMatch hgnc.symbol:HSCR8 semapv:UnspecifiedMatching OMIM:608463 AATF skos:exactMatch hgnc.symbol:19235 semapv:UnspecifiedMatching OMIM:608463 AATF skos:exactMatch hgnc.symbol:AATF semapv:UnspecifiedMatching OMIM:608463 AATF skos:exactMatch ncbigene:26574 semapv:UnspecifiedMatching @@ -50771,6 +51321,7 @@ OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:19988 semapv:UnspecifiedMatching OMIM:608473 ANAPC1 skos:exactMatch hgnc.symbol:ANAPC1 semapv:UnspecifiedMatching OMIM:608473 ANAPC1 skos:exactMatch ncbigene:64682 semapv:UnspecifiedMatching OMIM:608474 myopia 5, autosomal dominant skos:exactMatch MONDO:0012045 semapv:UnspecifiedMatching +OMIM:608474 myopia 5, autosomal dominant skos:exactMatch hgnc.symbol:MYP5 semapv:UnspecifiedMatching OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:4907 semapv:UnspecifiedMatching OMIM:608475 HIBADH skos:exactMatch hgnc.symbol:HIBADH semapv:UnspecifiedMatching OMIM:608475 HIBADH skos:exactMatch ncbigene:11112 semapv:UnspecifiedMatching @@ -50908,6 +51459,7 @@ OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:13618 semapv:UnspecifiedMatching OMIM:608519 FBXO16 skos:exactMatch hgnc.symbol:FBXO16 semapv:UnspecifiedMatching OMIM:608519 FBXO16 skos:exactMatch ncbigene:157574 semapv:UnspecifiedMatching OMIM:608520 major depressive disorder 1 skos:exactMatch MONDO:0012050 semapv:UnspecifiedMatching +OMIM:608520 major depressive disorder 1 skos:exactMatch hgnc.symbol:MDD1 semapv:UnspecifiedMatching OMIM:608521 LAMTOR5 skos:exactMatch UMLS:C1425201 semapv:UnspecifiedMatching OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:17955 semapv:UnspecifiedMatching OMIM:608521 LAMTOR5 skos:exactMatch hgnc.symbol:LAMTOR5 semapv:UnspecifiedMatching @@ -50926,6 +51478,7 @@ OMIM:608525 ING5 skos:exactMatch hgnc.symbol:19421 semapv:UnspecifiedMatching OMIM:608525 ING5 skos:exactMatch hgnc.symbol:ING5 semapv:UnspecifiedMatching OMIM:608525 ING5 skos:exactMatch ncbigene:84289 semapv:UnspecifiedMatching OMIM:608526 periodontitis, aggressive, 2 skos:exactMatch MONDO:0012051 semapv:UnspecifiedMatching +OMIM:608526 periodontitis, aggressive, 2 skos:exactMatch hgnc.symbol:PDON2 semapv:UnspecifiedMatching OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:21328 semapv:UnspecifiedMatching OMIM:608527 NEU4 skos:exactMatch hgnc.symbol:NEU4 semapv:UnspecifiedMatching OMIM:608527 NEU4 skos:exactMatch ncbigene:129807 semapv:UnspecifiedMatching @@ -50981,11 +51534,14 @@ OMIM:608541 ARHGAP32 skos:exactMatch hgnc.symbol:17399 semapv:UnspecifiedMatchi OMIM:608541 ARHGAP32 skos:exactMatch hgnc.symbol:ARHGAP32 semapv:UnspecifiedMatching OMIM:608541 ARHGAP32 skos:exactMatch ncbigene:9743 semapv:UnspecifiedMatching OMIM:608542 aneurysm, intracranial berry, 2 skos:exactMatch MONDO:0012053 semapv:UnspecifiedMatching +OMIM:608542 aneurysm, intracranial berry, 2 skos:exactMatch hgnc.symbol:ANIB2 semapv:UnspecifiedMatching OMIM:608543 schizophrenia 12 skos:exactMatch MONDO:0012054 semapv:UnspecifiedMatching +OMIM:608543 schizophrenia 12 skos:exactMatch hgnc.symbol:SCZD12 semapv:UnspecifiedMatching OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:18128 semapv:UnspecifiedMatching OMIM:608544 HDAC10 skos:exactMatch hgnc.symbol:HDAC10 semapv:UnspecifiedMatching OMIM:608544 HDAC10 skos:exactMatch ncbigene:83933 semapv:UnspecifiedMatching OMIM:608545 larsen-like syndrome skos:exactMatch MONDO:0012055 semapv:UnspecifiedMatching +OMIM:608545 larsen-like syndrome skos:exactMatch hgnc.symbol:LRSL semapv:UnspecifiedMatching OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:18683 semapv:UnspecifiedMatching OMIM:608546 EIF4A3 skos:exactMatch hgnc.symbol:EIF4A3 semapv:UnspecifiedMatching OMIM:608546 EIF4A3 skos:exactMatch ncbigene:9775 semapv:UnspecifiedMatching @@ -51018,6 +51574,9 @@ OMIM:608555 MTX2 skos:exactMatch hgnc.symbol:MTX2 semapv:UnspecifiedMatching OMIM:608555 MTX2 skos:exactMatch ncbigene:10651 semapv:UnspecifiedMatching OMIM:608556 legionnaire disease, susceptibility to skos:exactMatch MONDO:0012057 semapv:UnspecifiedMatching OMIM:608557 myocardial infarction, susceptibility to, 2 skos:exactMatch MONDO:0012058 semapv:UnspecifiedMatching +OMIM:608557 myocardial infarction, susceptibility to, 2 skos:exactMatch hgnc.symbol:MCI2 semapv:UnspecifiedMatching +OMIM:608558 body mass index quantitative trait locus 5 skos:exactMatch hgnc.symbol:BMIQ5 semapv:UnspecifiedMatching +OMIM:608559 body mass index quantitative trait locus 6 skos:exactMatch hgnc.symbol:BMIQ6 semapv:UnspecifiedMatching OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:18628 semapv:UnspecifiedMatching OMIM:608560 STAB1 skos:exactMatch hgnc.symbol:STAB1 semapv:UnspecifiedMatching OMIM:608560 STAB1 skos:exactMatch ncbigene:23166 semapv:UnspecifiedMatching @@ -51025,6 +51584,7 @@ OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:18629 semapv:UnspecifiedMatching OMIM:608561 STAB2 skos:exactMatch hgnc.symbol:STAB2 semapv:UnspecifiedMatching OMIM:608561 STAB2 skos:exactMatch ncbigene:55576 semapv:UnspecifiedMatching OMIM:608562 polydactyly, postaxial, type a4 skos:exactMatch MONDO:0012059 semapv:UnspecifiedMatching +OMIM:608562 polydactyly, postaxial, type a4 skos:exactMatch hgnc.symbol:PAPA4 semapv:UnspecifiedMatching OMIM:608564 GIT2 skos:exactMatch UMLS:C1333677 semapv:UnspecifiedMatching OMIM:608564 GIT2 skos:exactMatch hgnc.symbol:4273 semapv:UnspecifiedMatching OMIM:608564 GIT2 skos:exactMatch hgnc.symbol:GIT2 semapv:UnspecifiedMatching @@ -51072,9 +51632,11 @@ OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:20594 semapv:UnspecifiedMatching OMIM:608582 EGFL7 skos:exactMatch hgnc.symbol:EGFL7 semapv:UnspecifiedMatching OMIM:608582 EGFL7 skos:exactMatch ncbigene:51162 semapv:UnspecifiedMatching OMIM:608583 atrial fibrillation, familial, 1 skos:exactMatch MONDO:0012066 semapv:UnspecifiedMatching +OMIM:608583 atrial fibrillation, familial, 1 skos:exactMatch hgnc.symbol:ATFB1 semapv:UnspecifiedMatching OMIM:608584 asthma-related traits, susceptibility to, 2 skos:exactMatch MONDO:0012067 semapv:UnspecifiedMatching OMIM:608585 brachial palsy, familial congenital skos:exactMatch MONDO:0012068 semapv:UnspecifiedMatching OMIM:608586 keratoconus 3 skos:exactMatch MONDO:0012069 semapv:UnspecifiedMatching +OMIM:608586 keratoconus 3 skos:exactMatch hgnc.symbol:KTCN3 semapv:UnspecifiedMatching OMIM:608587 GHDC skos:exactMatch UMLS:C1825345 semapv:UnspecifiedMatching OMIM:608587 GHDC skos:exactMatch hgnc.symbol:24438 semapv:UnspecifiedMatching OMIM:608587 GHDC skos:exactMatch hgnc.symbol:GHDC semapv:UnspecifiedMatching @@ -51185,6 +51747,7 @@ OMIM:608630 ROBO3 skos:exactMatch hgnc.symbol:13433 semapv:UnspecifiedMatching OMIM:608630 ROBO3 skos:exactMatch hgnc.symbol:ROBO3 semapv:UnspecifiedMatching OMIM:608630 ROBO3 skos:exactMatch ncbigene:64221 semapv:UnspecifiedMatching OMIM:608631 asperger syndrome, susceptibility to, 2 skos:exactMatch MONDO:0012079 semapv:UnspecifiedMatching +OMIM:608631 asperger syndrome, susceptibility to, 2 skos:exactMatch hgnc.symbol:ASPG2 semapv:UnspecifiedMatching OMIM:608632 MIR196A1 skos:exactMatch hgnc.symbol:31567 semapv:UnspecifiedMatching OMIM:608632 MIR196A1 skos:exactMatch hgnc.symbol:MIR196A1 semapv:UnspecifiedMatching OMIM:608632 MIR196A1 skos:exactMatch ncbigene:406972 semapv:UnspecifiedMatching @@ -51197,6 +51760,7 @@ OMIM:608635 ADAP2 skos:exactMatch hgnc.symbol:ADAP2 semapv:UnspecifiedMatching OMIM:608635 ADAP2 skos:exactMatch ncbigene:55803 semapv:UnspecifiedMatching OMIM:608636 chromosome 15q11-q13 duplication syndrome skos:exactMatch MONDO:0012081 semapv:UnspecifiedMatching OMIM:608638 asperger syndrome, susceptibility to, 1 skos:exactMatch MONDO:0012082 semapv:UnspecifiedMatching +OMIM:608638 asperger syndrome, susceptibility to, 1 skos:exactMatch hgnc.symbol:ASPG1 semapv:UnspecifiedMatching OMIM:608639 PLEKHA8 skos:exactMatch hgnc.symbol:30037 semapv:UnspecifiedMatching OMIM:608639 PLEKHA8 skos:exactMatch hgnc.symbol:PLEKHA8 semapv:UnspecifiedMatching OMIM:608639 PLEKHA8 skos:exactMatch ncbigene:84725 semapv:UnspecifiedMatching @@ -51212,7 +51776,9 @@ OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch Orpha OMIM:608643 aromatic l-amino acid decarboxylase deficiency skos:exactMatch UMLS:C1291564 semapv:UnspecifiedMatching OMIM:608644 ciliary dyskinesia, primary, 3 skos:exactMatch MONDO:0012085 semapv:UnspecifiedMatching OMIM:608645 deafness, autosomal dominant 31 skos:exactMatch MONDO:0012086 semapv:UnspecifiedMatching +OMIM:608645 deafness, autosomal dominant 31 skos:exactMatch hgnc.symbol:DFNA31 semapv:UnspecifiedMatching OMIM:608646 ciliary dyskinesia, primary, 4 skos:exactMatch MONDO:0012087 semapv:UnspecifiedMatching +OMIM:608646 ciliary dyskinesia, primary, 4 skos:exactMatch hgnc.symbol:CILD4 semapv:UnspecifiedMatching OMIM:608647 ciliary dyskinesia, primary, 5 skos:exactMatch MONDO:0012088 semapv:UnspecifiedMatching OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:21082 semapv:UnspecifiedMatching OMIM:608648 SEC63 skos:exactMatch hgnc.symbol:SEC63 semapv:UnspecifiedMatching @@ -51225,16 +51791,19 @@ OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:16922 semapv:UnspecifiedMatching OMIM:608651 AGAP1 skos:exactMatch hgnc.symbol:AGAP1 semapv:UnspecifiedMatching OMIM:608651 AGAP1 skos:exactMatch ncbigene:116987 semapv:UnspecifiedMatching OMIM:608652 deafness, autosomal dominant 47 skos:exactMatch MONDO:0012090 semapv:UnspecifiedMatching +OMIM:608652 deafness, autosomal dominant 47 skos:exactMatch hgnc.symbol:DFNA47 semapv:UnspecifiedMatching OMIM:608653 deafness, autosomal recessive 32, with or without immotile sperm skos:exactMatch MONDO:0012091 semapv:UnspecifiedMatching OMIM:608654 neuropathy, hereditary sensory and autonomic, type 5 skos:exactMatch MONDO:0012092 semapv:UnspecifiedMatching OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:4280 semapv:UnspecifiedMatching OMIM:608655 GJC1 skos:exactMatch hgnc.symbol:GJC1 semapv:UnspecifiedMatching OMIM:608655 GJC1 skos:exactMatch ncbigene:10052 semapv:UnspecifiedMatching OMIM:608656 prostate cancer, hereditary, 3 skos:exactMatch MONDO:0012093 semapv:UnspecifiedMatching +OMIM:608656 prostate cancer, hereditary, 3 skos:exactMatch hgnc.symbol:HPC3 semapv:UnspecifiedMatching OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:17546 semapv:UnspecifiedMatching OMIM:608657 JDP2 skos:exactMatch hgnc.symbol:JDP2 semapv:UnspecifiedMatching OMIM:608657 JDP2 skos:exactMatch ncbigene:122953 semapv:UnspecifiedMatching OMIM:608658 prostate cancer, hereditary, 4 skos:exactMatch MONDO:0012094 semapv:UnspecifiedMatching +OMIM:608658 prostate cancer, hereditary, 4 skos:exactMatch hgnc.symbol:HPC4 semapv:UnspecifiedMatching OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:22992 semapv:UnspecifiedMatching OMIM:608659 SENP8 skos:exactMatch hgnc.symbol:SENP8 semapv:UnspecifiedMatching OMIM:608659 SENP8 skos:exactMatch ncbigene:123228 semapv:UnspecifiedMatching @@ -51332,6 +51901,7 @@ OMIM:608690 SSX2IP skos:exactMatch hgnc.symbol:16509 semapv:UnspecifiedMatching OMIM:608690 SSX2IP skos:exactMatch hgnc.symbol:SSX2IP semapv:UnspecifiedMatching OMIM:608690 SSX2IP skos:exactMatch ncbigene:117178 semapv:UnspecifiedMatching OMIM:608691 major depressive disorder 2 skos:exactMatch MONDO:0012100 semapv:UnspecifiedMatching +OMIM:608691 major depressive disorder 2 skos:exactMatch hgnc.symbol:MDD2 semapv:UnspecifiedMatching OMIM:608692 BLZF1 skos:exactMatch hgnc.symbol:1065 semapv:UnspecifiedMatching OMIM:608692 BLZF1 skos:exactMatch hgnc.symbol:BLZF1 semapv:UnspecifiedMatching OMIM:608692 BLZF1 skos:exactMatch ncbigene:8548 semapv:UnspecifiedMatching @@ -51342,7 +51912,9 @@ OMIM:608694 ZNF622 skos:exactMatch hgnc.symbol:30958 semapv:UnspecifiedMatching OMIM:608694 ZNF622 skos:exactMatch hgnc.symbol:ZNF622 semapv:UnspecifiedMatching OMIM:608694 ZNF622 skos:exactMatch ncbigene:90441 semapv:UnspecifiedMatching OMIM:608695 glaucoma 1, open angle, j skos:exactMatch MONDO:0012101 semapv:UnspecifiedMatching +OMIM:608695 glaucoma 1, open angle, j skos:exactMatch hgnc.symbol:GLC1J semapv:UnspecifiedMatching OMIM:608696 glaucoma 1, open angle, k skos:exactMatch MONDO:0012102 semapv:UnspecifiedMatching +OMIM:608696 glaucoma 1, open angle, k skos:exactMatch hgnc.symbol:GLC1K semapv:UnspecifiedMatching OMIM:608697 FIGLA skos:exactMatch hgnc.symbol:24669 semapv:UnspecifiedMatching OMIM:608697 FIGLA skos:exactMatch hgnc.symbol:FIGLA semapv:UnspecifiedMatching OMIM:608697 FIGLA skos:exactMatch ncbigene:344018 semapv:UnspecifiedMatching @@ -51383,6 +51955,7 @@ OMIM:608708 BOC skos:exactMatch hgnc.symbol:BOC semapv:UnspecifiedMatching OMIM:608708 BOC skos:exactMatch ncbigene:91653 semapv:UnspecifiedMatching OMIM:608709 lipodystrophy, partial, acquired, susceptibility to skos:exactMatch MONDO:0100476 semapv:UnspecifiedMatching OMIM:608710 granulomatosis with polyangiitis skos:exactMatch MONDO:0012105 semapv:UnspecifiedMatching +OMIM:608710 granulomatosis with polyangiitis skos:exactMatch hgnc.symbol:WG semapv:UnspecifiedMatching OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:17077 semapv:UnspecifiedMatching OMIM:608711 CTDSP2 skos:exactMatch hgnc.symbol:CTDSP2 semapv:UnspecifiedMatching OMIM:608711 CTDSP2 skos:exactMatch ncbigene:10106 semapv:UnspecifiedMatching @@ -51483,6 +52056,7 @@ OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:19239 semapv:UnspecifiedMatching OMIM:608741 SYT11 skos:exactMatch hgnc.symbol:SYT11 semapv:UnspecifiedMatching OMIM:608741 SYT11 skos:exactMatch ncbigene:23208 semapv:UnspecifiedMatching OMIM:608742 hypertension, essential, susceptibility to, 4 skos:exactMatch MONDO:0012109 semapv:UnspecifiedMatching +OMIM:608742 hypertension, essential, susceptibility to, 4 skos:exactMatch hgnc.symbol:HYT4 semapv:UnspecifiedMatching OMIM:608743 JSRP1 skos:exactMatch UMLS:C1825641 semapv:UnspecifiedMatching OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:24963 semapv:UnspecifiedMatching OMIM:608743 JSRP1 skos:exactMatch hgnc.symbol:JSRP1 semapv:UnspecifiedMatching @@ -51540,6 +52114,7 @@ OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:14025 semapv:UnspecifiedMatching OMIM:608761 SLC5A7 skos:exactMatch hgnc.symbol:SLC5A7 semapv:UnspecifiedMatching OMIM:608761 SLC5A7 skos:exactMatch ncbigene:60482 semapv:UnspecifiedMatching OMIM:608762 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch MONDO:0012113 semapv:UnspecifiedMatching +OMIM:608762 epilepsy, idiopathic generalized, susceptibility to, 3 skos:exactMatch hgnc.symbol:EIG3 semapv:UnspecifiedMatching OMIM:608763 ehlers-danlos syndrome, beasley-cohen type skos:exactMatch MONDO:0012114 semapv:UnspecifiedMatching OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:30092 semapv:UnspecifiedMatching OMIM:608764 NAMPT skos:exactMatch hgnc.symbol:NAMPT semapv:UnspecifiedMatching @@ -51587,6 +52162,7 @@ OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:21157 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch hgnc.symbol:GTF2H5 semapv:UnspecifiedMatching OMIM:608780 GTF2H5 skos:exactMatch ncbigene:404672 semapv:UnspecifiedMatching OMIM:608781 asperger syndrome, susceptibility to, 3 skos:exactMatch MONDO:0012119 semapv:UnspecifiedMatching +OMIM:608781 asperger syndrome, susceptibility to, 3 skos:exactMatch hgnc.symbol:ASPG3 semapv:UnspecifiedMatching OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch MONDO:0012120 semapv:UnspecifiedMatching OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:765 semapv:UnspecifiedMatching OMIM:608782 pyruvate dehydrogenase phosphatase deficiency skos:exactMatch Orphanet:79246 semapv:UnspecifiedMatching @@ -51604,6 +52180,7 @@ OMIM:608786 PC skos:exactMatch hgnc.symbol:8636 semapv:UnspecifiedMatching OMIM:608786 PC skos:exactMatch hgnc.symbol:PC semapv:UnspecifiedMatching OMIM:608786 PC skos:exactMatch ncbigene:5091 semapv:UnspecifiedMatching OMIM:608787 otosclerosis 5 skos:exactMatch MONDO:0012121 semapv:UnspecifiedMatching +OMIM:608787 otosclerosis 5 skos:exactMatch hgnc.symbol:OTSC5 semapv:UnspecifiedMatching OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:29846 semapv:UnspecifiedMatching OMIM:608788 SOCS7 skos:exactMatch hgnc.symbol:SOCS7 semapv:UnspecifiedMatching OMIM:608788 SOCS7 skos:exactMatch ncbigene:30837 semapv:UnspecifiedMatching @@ -51631,6 +52208,7 @@ OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:9061 semapv:UnspecifiedMatching OMIM:608795 PLCD3 skos:exactMatch hgnc.symbol:PLCD3 semapv:UnspecifiedMatching OMIM:608795 PLCD3 skos:exactMatch ncbigene:113026 semapv:UnspecifiedMatching OMIM:608796 moyamoya disease 3 skos:exactMatch MONDO:0012122 semapv:UnspecifiedMatching +OMIM:608796 moyamoya disease 3 skos:exactMatch hgnc.symbol:MYMY3 semapv:UnspecifiedMatching OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:28613 semapv:UnspecifiedMatching OMIM:608797 MEI1 skos:exactMatch hgnc.symbol:MEI1 semapv:UnspecifiedMatching OMIM:608797 MEI1 skos:exactMatch ncbigene:150365 semapv:UnspecifiedMatching @@ -51673,6 +52251,7 @@ OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:16406 semapv:UnspecifiedMatching OMIM:608815 EFHC1 skos:exactMatch hgnc.symbol:EFHC1 semapv:UnspecifiedMatching OMIM:608815 EFHC1 skos:exactMatch ncbigene:114327 semapv:UnspecifiedMatching OMIM:608816 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch MONDO:0012134 semapv:UnspecifiedMatching +OMIM:608816 myoclonic epilepsy, juvenile, susceptibility to, 3 skos:exactMatch hgnc.symbol:EJM3 semapv:UnspecifiedMatching OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:29317 semapv:UnspecifiedMatching OMIM:608817 LRRC4C skos:exactMatch hgnc.symbol:LRRC4C semapv:UnspecifiedMatching OMIM:608817 LRRC4C skos:exactMatch ncbigene:57689 semapv:UnspecifiedMatching @@ -51718,6 +52297,7 @@ OMIM:608830 RDH12 skos:exactMatch hgnc.symbol:19977 semapv:UnspecifiedMatching OMIM:608830 RDH12 skos:exactMatch hgnc.symbol:RDH12 semapv:UnspecifiedMatching OMIM:608830 RDH12 skos:exactMatch ncbigene:145226 semapv:UnspecifiedMatching OMIM:608831 restless legs syndrome, susceptibility to, 2 skos:exactMatch MONDO:0012135 semapv:UnspecifiedMatching +OMIM:608831 restless legs syndrome, susceptibility to, 2 skos:exactMatch hgnc.symbol:RLS2 semapv:UnspecifiedMatching OMIM:608832 GREM2 skos:exactMatch UMLS:C1539615 semapv:UnspecifiedMatching OMIM:608832 GREM2 skos:exactMatch UMLS:C4310638 semapv:UnspecifiedMatching OMIM:608832 GREM2 skos:exactMatch hgnc.symbol:17655 semapv:UnspecifiedMatching @@ -51780,6 +52360,7 @@ OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:12836 semapv:UnspecifiedMatching OMIM:608851 XRN2 skos:exactMatch hgnc.symbol:XRN2 semapv:UnspecifiedMatching OMIM:608851 XRN2 skos:exactMatch ncbigene:22803 semapv:UnspecifiedMatching OMIM:608852 pulmonary function skos:exactMatch MONDO:0012140 semapv:UnspecifiedMatching +OMIM:608852 pulmonary function skos:exactMatch hgnc.symbol:PLF semapv:UnspecifiedMatching OMIM:608853 BLID skos:exactMatch hgnc.symbol:33495 semapv:UnspecifiedMatching OMIM:608853 BLID skos:exactMatch hgnc.symbol:BLID semapv:UnspecifiedMatching OMIM:608853 BLID skos:exactMatch ncbigene:414899 semapv:UnspecifiedMatching @@ -51850,6 +52431,7 @@ OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:141291 semapv:Unspecifie OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199302 semapv:UnspecifiedMatching OMIM:608874 orofacial cleft 5 skos:exactMatch Orphanet:199306 semapv:UnspecifiedMatching OMIM:608874 orofacial cleft 5 skos:exactMatch UMLS:C1837210 semapv:UnspecifiedMatching +OMIM:608875 gene expression, variation in, quantitative trait locus on chromosome 14 skos:exactMatch hgnc.symbol:GEVQ1 semapv:UnspecifiedMatching OMIM:608876 PCF11 skos:exactMatch UMLS:C1826547 semapv:UnspecifiedMatching OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:30097 semapv:UnspecifiedMatching OMIM:608876 PCF11 skos:exactMatch hgnc.symbol:PCF11 semapv:UnspecifiedMatching @@ -51857,6 +52439,7 @@ OMIM:608876 PCF11 skos:exactMatch ncbigene:51585 semapv:UnspecifiedMatching OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:23595 semapv:UnspecifiedMatching OMIM:608877 VPS13D skos:exactMatch hgnc.symbol:VPS13D semapv:UnspecifiedMatching OMIM:608877 VPS13D skos:exactMatch ncbigene:55187 semapv:UnspecifiedMatching +OMIM:608878 gene expression, variation in, quantitative trait locus on chromosome 20 skos:exactMatch hgnc.symbol:GEVQ2 semapv:UnspecifiedMatching OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:23594 semapv:UnspecifiedMatching OMIM:608879 VPS13C skos:exactMatch hgnc.symbol:VPS13C semapv:UnspecifiedMatching OMIM:608879 VPS13C skos:exactMatch ncbigene:54832 semapv:UnspecifiedMatching @@ -51922,9 +52505,13 @@ OMIM:608900 gtf2i repeat domain-containing protein 2, beta skos:exactMatch ncbig OMIM:608901 coronary heart disease, susceptibility to, 5 skos:exactMatch MONDO:0012147 semapv:UnspecifiedMatching OMIM:608902 drug metabolism, poor, cyp2d6-related skos:exactMatch MONDO:0012148 semapv:UnspecifiedMatching OMIM:608903 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch MONDO:0012149 semapv:UnspecifiedMatching +OMIM:608903 attention deficit-hyperactivity disorder, susceptibility to, 1 skos:exactMatch hgnc.symbol:ADHD1 semapv:UnspecifiedMatching OMIM:608904 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch MONDO:0012150 semapv:UnspecifiedMatching +OMIM:608904 attention deficit-hyperactivity disorder, susceptibility to, 2 skos:exactMatch hgnc.symbol:ADHD2 semapv:UnspecifiedMatching OMIM:608905 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch MONDO:0012151 semapv:UnspecifiedMatching +OMIM:608905 attention deficit-hyperactivity disorder, susceptibility to, 3 skos:exactMatch hgnc.symbol:ADHD3 semapv:UnspecifiedMatching OMIM:608906 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch MONDO:0012152 semapv:UnspecifiedMatching +OMIM:608906 attention deficit-hyperactivity disorder, susceptibility to, 4 skos:exactMatch hgnc.symbol:ADHD4 semapv:UnspecifiedMatching OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch MONDO:0012153 semapv:UnspecifiedMatching OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C1837149 semapv:UnspecifiedMatching OMIM:608907 alzheimer disease 9, susceptibility to skos:exactMatch UMLS:C4282179 semapv:UnspecifiedMatching @@ -51999,6 +52586,7 @@ OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine r OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch Orphanet:98913 semapv:UnspecifiedMatching OMIM:608931 myasthenic syndrome, congenital, 4c, associated with acetylcholine receptor deficiency skos:exactMatch UMLS:C1837091 semapv:UnspecifiedMatching OMIM:608932 keratoconus 2 skos:exactMatch MONDO:0012158 semapv:UnspecifiedMatching +OMIM:608932 keratoconus 2 skos:exactMatch hgnc.symbol:KTCN2 semapv:UnspecifiedMatching OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:18956 semapv:UnspecifiedMatching OMIM:608933 NEIL2 skos:exactMatch hgnc.symbol:NEIL2 semapv:UnspecifiedMatching OMIM:608933 NEIL2 skos:exactMatch ncbigene:252969 semapv:UnspecifiedMatching @@ -52006,6 +52594,7 @@ OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:24573 semapv:UnspecifiedMatching OMIM:608934 NEIL3 skos:exactMatch hgnc.symbol:NEIL3 semapv:UnspecifiedMatching OMIM:608934 NEIL3 skos:exactMatch ncbigene:55247 semapv:UnspecifiedMatching OMIM:608935 lung cancer susceptibility 1 skos:exactMatch MONDO:0012159 semapv:UnspecifiedMatching +OMIM:608935 lung cancer susceptibility 1 skos:exactMatch hgnc.symbol:LNCR1 semapv:UnspecifiedMatching OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:17279 semapv:UnspecifiedMatching OMIM:608936 OPRPN skos:exactMatch hgnc.symbol:OPRPN semapv:UnspecifiedMatching OMIM:608936 OPRPN skos:exactMatch ncbigene:58503 semapv:UnspecifiedMatching @@ -52137,6 +52726,7 @@ OMIM:608980 bifid nose with or without anorectal and renal anomalies skos:exactM OMIM:608981 ACVR1C skos:exactMatch hgnc.symbol:18123 semapv:UnspecifiedMatching OMIM:608981 ACVR1C skos:exactMatch hgnc.symbol:ACVR1C semapv:UnspecifiedMatching OMIM:608981 ACVR1C skos:exactMatch ncbigene:130399 semapv:UnspecifiedMatching +OMIM:608982 stature quantitative trait locus 5 skos:exactMatch hgnc.symbol:STQTL5 semapv:UnspecifiedMatching OMIM:608984 ataxia, sensory, 1, autosomal dominant skos:exactMatch MONDO:0012166 semapv:UnspecifiedMatching OMIM:608985 RNF2 skos:exactMatch hgnc.symbol:10061 semapv:UnspecifiedMatching OMIM:608985 RNF2 skos:exactMatch hgnc.symbol:RNF2 semapv:UnspecifiedMatching @@ -52148,6 +52738,7 @@ OMIM:608987 P4HA3 skos:exactMatch hgnc.symbol:30135 semapv:UnspecifiedMatching OMIM:608987 P4HA3 skos:exactMatch hgnc.symbol:P4HA3 semapv:UnspecifiedMatching OMIM:608987 P4HA3 skos:exactMatch ncbigene:283208 semapv:UnspecifiedMatching OMIM:608988 atrial fibrillation, familial, 2 skos:exactMatch MONDO:0012167 semapv:UnspecifiedMatching +OMIM:608988 atrial fibrillation, familial, 2 skos:exactMatch hgnc.symbol:ATFB2 semapv:UnspecifiedMatching OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc.symbol:30311 semapv:UnspecifiedMatching OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch hgnc.symbol:SDR16C5 semapv:UnspecifiedMatching OMIM:608989 retinal dehydrogenase, epidermal, 2 skos:exactMatch ncbigene:195814 semapv:UnspecifiedMatching @@ -52167,6 +52758,7 @@ OMIM:608994 ANKS1A skos:exactMatch hgnc.symbol:20961 semapv:UnspecifiedMatching OMIM:608994 ANKS1A skos:exactMatch hgnc.symbol:ANKS1A semapv:UnspecifiedMatching OMIM:608994 ANKS1A skos:exactMatch ncbigene:23294 semapv:UnspecifiedMatching OMIM:608995 dyslexia, susceptibility to, 8 skos:exactMatch MONDO:0012168 semapv:UnspecifiedMatching +OMIM:608995 dyslexia, susceptibility to, 8 skos:exactMatch hgnc.symbol:DYX8 semapv:UnspecifiedMatching OMIM:608996 premature ovarian failure 3 skos:exactMatch MONDO:0012169 semapv:UnspecifiedMatching OMIM:608998 EIPR1 skos:exactMatch hgnc.symbol:12383 semapv:UnspecifiedMatching OMIM:608998 EIPR1 skos:exactMatch hgnc.symbol:EIPR1 semapv:UnspecifiedMatching @@ -52254,6 +52846,7 @@ OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:24431 semapv:UnspecifiedMatching OMIM:609025 KRT75 skos:exactMatch hgnc.symbol:KRT75 semapv:UnspecifiedMatching OMIM:609025 KRT75 skos:exactMatch ncbigene:9119 semapv:UnspecifiedMatching OMIM:609026 cataract 28 skos:exactMatch MONDO:0012175 semapv:UnspecifiedMatching +OMIM:609026 cataract 28 skos:exactMatch hgnc.symbol:CTRCT28 semapv:UnspecifiedMatching OMIM:609028 TIFA skos:exactMatch hgnc.symbol:19075 semapv:UnspecifiedMatching OMIM:609028 TIFA skos:exactMatch hgnc.symbol:TIFA semapv:UnspecifiedMatching OMIM:609028 TIFA skos:exactMatch ncbigene:92610 semapv:UnspecifiedMatching @@ -52283,10 +52876,12 @@ OMIM:609038 RND1 skos:exactMatch hgnc.symbol:18314 semapv:UnspecifiedMatching OMIM:609038 RND1 skos:exactMatch hgnc.symbol:RND1 semapv:UnspecifiedMatching OMIM:609038 RND1 skos:exactMatch ncbigene:27289 semapv:UnspecifiedMatching OMIM:609039 narcolepsy 3 skos:exactMatch MONDO:0012179 semapv:UnspecifiedMatching +OMIM:609039 narcolepsy 3 skos:exactMatch hgnc.symbol:NRCLP3 semapv:UnspecifiedMatching OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch MONDO:0012180 semapv:UnspecifiedMatching OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch Orphanet:217656 semapv:UnspecifiedMatching OMIM:609040 arrhythmogenic right ventricular dysplasia, familial, 9 skos:exactMatch UMLS:C1836906 semapv:UnspecifiedMatching OMIM:609041 spastic paraplegia 27, autosomal recessive skos:exactMatch MONDO:0012181 semapv:UnspecifiedMatching +OMIM:609041 spastic paraplegia 27, autosomal recessive skos:exactMatch hgnc.symbol:SPG27 semapv:UnspecifiedMatching OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:19992 semapv:UnspecifiedMatching OMIM:609042 OPN5 skos:exactMatch hgnc.symbol:OPN5 semapv:UnspecifiedMatching OMIM:609042 OPN5 skos:exactMatch ncbigene:221391 semapv:UnspecifiedMatching @@ -52319,6 +52914,7 @@ OMIM:609052 spondylometaphyseal dysplasia, type a4 skos:exactMatch MONDO:0012185 OMIM:609053 fanconi anemia, complementation group 1 skos:exactMatch MONDO:0012186 semapv:UnspecifiedMatching OMIM:609054 fanconi anemia, complementation group j skos:exactMatch MONDO:0012187 semapv:UnspecifiedMatching OMIM:609055 ceroid lipofuscinosis, neuronal, 9 skos:exactMatch MONDO:0012188 semapv:UnspecifiedMatching +OMIM:609055 ceroid lipofuscinosis, neuronal, 9 skos:exactMatch hgnc.symbol:CLN9 semapv:UnspecifiedMatching OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch MONDO:0018274 semapv:UnspecifiedMatching OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch Orphanet:370933 semapv:UnspecifiedMatching OMIM:609056 salt and pepper developmental regression syndrome skos:exactMatch UMLS:C1836824 semapv:UnspecifiedMatching @@ -52490,11 +53086,13 @@ OMIM:609111 FBXO44 skos:exactMatch ncbigene:93611 semapv:UnspecifiedMatching OMIM:609112 FBXO45 skos:exactMatch hgnc.symbol:29148 semapv:UnspecifiedMatching OMIM:609112 FBXO45 skos:exactMatch hgnc.symbol:FBXO45 semapv:UnspecifiedMatching OMIM:609112 FBXO45 skos:exactMatch ncbigene:200933 semapv:UnspecifiedMatching +OMIM:609113 telomere length, mean leukocyte skos:exactMatch hgnc.symbol:TELM semapv:UnspecifiedMatching OMIM:609114 DSTN skos:exactMatch hgnc.symbol:15750 semapv:UnspecifiedMatching OMIM:609114 DSTN skos:exactMatch hgnc.symbol:DSTN semapv:UnspecifiedMatching OMIM:609114 DSTN skos:exactMatch ncbigene:11034 semapv:UnspecifiedMatching OMIM:609115 muscular dystrophy, limb-girdle, autosomal dominant 3 skos:exactMatch MONDO:0012193 semapv:UnspecifiedMatching OMIM:609116 respiratory rhythmicity 1n sleep skos:exactMatch UMLS:C1836764 semapv:UnspecifiedMatching +OMIM:609116 respiratory rhythmicity 1n sleep skos:exactMatch hgnc.symbol:RRIS semapv:UnspecifiedMatching OMIM:609117 FBXO46 skos:exactMatch hgnc.symbol:25069 semapv:UnspecifiedMatching OMIM:609117 FBXO46 skos:exactMatch hgnc.symbol:FBXO46 semapv:UnspecifiedMatching OMIM:609117 FBXO46 skos:exactMatch ncbigene:23403 semapv:UnspecifiedMatching @@ -52511,6 +53109,7 @@ OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:23220 semapv:UnspecifiedMatchi OMIM:609121 CATSPER4 skos:exactMatch hgnc.symbol:CATSPER4 semapv:UnspecifiedMatching OMIM:609121 CATSPER4 skos:exactMatch ncbigene:378807 semapv:UnspecifiedMatching OMIM:609122 aneurysm, intracranial berry, 3 skos:exactMatch MONDO:0012194 semapv:UnspecifiedMatching +OMIM:609122 aneurysm, intracranial berry, 3 skos:exactMatch hgnc.symbol:ANIB3 semapv:UnspecifiedMatching OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:13536 semapv:UnspecifiedMatching OMIM:609123 ATP8B4 skos:exactMatch hgnc.symbol:ATP8B4 semapv:UnspecifiedMatching OMIM:609123 ATP8B4 skos:exactMatch ncbigene:79895 semapv:UnspecifiedMatching @@ -52524,6 +53123,7 @@ OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:13540 semapv:UnspecifiedMatching OMIM:609126 ATP9A skos:exactMatch hgnc.symbol:ATP9A semapv:UnspecifiedMatching OMIM:609126 ATP9A skos:exactMatch ncbigene:10079 semapv:UnspecifiedMatching OMIM:609128 arthrogryposis, distal, type 4 skos:exactMatch MONDO:0012195 semapv:UnspecifiedMatching +OMIM:609128 arthrogryposis, distal, type 4 skos:exactMatch hgnc.symbol:DA4 semapv:UnspecifiedMatching OMIM:609129 auditory neuropathy, autosomal dominant 1 skos:exactMatch MONDO:0012196 semapv:UnspecifiedMatching OMIM:609130 CENPS skos:exactMatch hgnc.symbol:23163 semapv:UnspecifiedMatching OMIM:609130 CENPS skos:exactMatch hgnc.symbol:CENPS semapv:UnspecifiedMatching @@ -52643,6 +53243,7 @@ OMIM:609178 MIS12 skos:exactMatch hgnc.symbol:24967 semapv:UnspecifiedMatching OMIM:609178 MIS12 skos:exactMatch hgnc.symbol:MIS12 semapv:UnspecifiedMatching OMIM:609178 MIS12 skos:exactMatch ncbigene:79003 semapv:UnspecifiedMatching OMIM:609179 migraine with aura, susceptibility to, 7 skos:exactMatch MONDO:0012210 semapv:UnspecifiedMatching +OMIM:609179 migraine with aura, susceptibility to, 7 skos:exactMatch hgnc.symbol:MGR7 semapv:UnspecifiedMatching OMIM:609180 congenital disorder of glycosylation, type if skos:exactMatch MONDO:0012211 semapv:UnspecifiedMatching OMIM:609181 DYRK4 skos:exactMatch hgnc.symbol:3095 semapv:UnspecifiedMatching OMIM:609181 DYRK4 skos:exactMatch hgnc.symbol:DYRK4 semapv:UnspecifiedMatching @@ -52695,6 +53296,7 @@ OMIM:609196 MRAP skos:exactMatch hgnc.symbol:1304 semapv:UnspecifiedMatching OMIM:609196 MRAP skos:exactMatch hgnc.symbol:MRAP semapv:UnspecifiedMatching OMIM:609196 MRAP skos:exactMatch ncbigene:56246 semapv:UnspecifiedMatching OMIM:609197 glucocorticoid deficiency 3 skos:exactMatch MONDO:0012214 semapv:UnspecifiedMatching +OMIM:609197 glucocorticoid deficiency 3 skos:exactMatch hgnc.symbol:GCCD3 semapv:UnspecifiedMatching OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:14632 semapv:UnspecifiedMatching OMIM:609198 ADAMTSL1 skos:exactMatch hgnc.symbol:ADAMTSL1 semapv:UnspecifiedMatching OMIM:609198 ADAMTSL1 skos:exactMatch ncbigene:92949 semapv:UnspecifiedMatching @@ -52850,17 +53452,24 @@ OMIM:609252 LIPI skos:exactMatch hgnc.symbol:18821 semapv:UnspecifiedMatching OMIM:609252 LIPI skos:exactMatch hgnc.symbol:LIPI semapv:UnspecifiedMatching OMIM:609252 LIPI skos:exactMatch ncbigene:149998 semapv:UnspecifiedMatching OMIM:609253 febrile seizures, familial, 6 skos:exactMatch MONDO:0012224 semapv:UnspecifiedMatching +OMIM:609253 febrile seizures, familial, 6 skos:exactMatch hgnc.symbol:FEB6 semapv:UnspecifiedMatching OMIM:609254 senior-loken syndrome 5 skos:exactMatch MONDO:0012225 semapv:UnspecifiedMatching OMIM:609255 febrile seizures, familial, 5 skos:exactMatch MONDO:0012226 semapv:UnspecifiedMatching +OMIM:609255 febrile seizures, familial, 5 skos:exactMatch hgnc.symbol:FEB5 semapv:UnspecifiedMatching OMIM:609256 myopia 7 skos:exactMatch MONDO:0012227 semapv:UnspecifiedMatching +OMIM:609256 myopia 7 skos:exactMatch hgnc.symbol:MYP7 semapv:UnspecifiedMatching OMIM:609257 myopia 8 skos:exactMatch MONDO:0012228 semapv:UnspecifiedMatching +OMIM:609257 myopia 8 skos:exactMatch hgnc.symbol:MYP8 semapv:UnspecifiedMatching OMIM:609258 myopia 9 skos:exactMatch MONDO:0012229 semapv:UnspecifiedMatching +OMIM:609258 myopia 9 skos:exactMatch hgnc.symbol:MYP9 semapv:UnspecifiedMatching OMIM:609259 myopia 10 skos:exactMatch MONDO:0012230 semapv:UnspecifiedMatching +OMIM:609259 myopia 10 skos:exactMatch hgnc.symbol:MYP10 semapv:UnspecifiedMatching OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a skos:exactMatch MONDO:0012231 semapv:UnspecifiedMatching OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a skos:exactMatch Orphanet:99947 semapv:UnspecifiedMatching OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a skos:exactMatch UMLS:C1836485 semapv:UnspecifiedMatching OMIM:609260 charcot-marie-tooth disease, axonal, autosomal dominant, type 2a2a skos:exactMatch UMLS:C4721887 semapv:UnspecifiedMatching OMIM:609261 stuttering, familial persistent, 2 skos:exactMatch MONDO:0012232 semapv:UnspecifiedMatching +OMIM:609261 stuttering, familial persistent, 2 skos:exactMatch hgnc.symbol:STUT2 semapv:UnspecifiedMatching OMIM:609262 CRBN skos:exactMatch hgnc.symbol:30185 semapv:UnspecifiedMatching OMIM:609262 CRBN skos:exactMatch hgnc.symbol:CRBN semapv:UnspecifiedMatching OMIM:609262 CRBN skos:exactMatch ncbigene:51185 semapv:UnspecifiedMatching @@ -52882,6 +53491,7 @@ OMIM:609269 KIAA0319 skos:exactMatch hgnc.symbol:KIAA0319 semapv:UnspecifiedMat OMIM:609269 KIAA0319 skos:exactMatch ncbigene:9856 semapv:UnspecifiedMatching OMIM:609270 spinocerebellar ataxia, autosomal recessive 7 skos:exactMatch MONDO:0012235 semapv:UnspecifiedMatching OMIM:609271 keratoconus 4 skos:exactMatch MONDO:0012236 semapv:UnspecifiedMatching +OMIM:609271 keratoconus 4 skos:exactMatch hgnc.symbol:KTCN4 semapv:UnspecifiedMatching OMIM:609272 TPSD1 skos:exactMatch hgnc.symbol:14118 semapv:UnspecifiedMatching OMIM:609272 TPSD1 skos:exactMatch hgnc.symbol:TPSD1 semapv:UnspecifiedMatching OMIM:609272 TPSD1 skos:exactMatch ncbigene:23430 semapv:UnspecifiedMatching @@ -52936,6 +53546,7 @@ OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:10834 semapv:UnspecifiedMatchin OMIM:609288 SH3GLB2 skos:exactMatch hgnc.symbol:SH3GLB2 semapv:UnspecifiedMatching OMIM:609288 SH3GLB2 skos:exactMatch ncbigene:56904 semapv:UnspecifiedMatching OMIM:609289 syncope, familial vasovagal skos:exactMatch MONDO:0012242 semapv:UnspecifiedMatching +OMIM:609289 syncope, familial vasovagal skos:exactMatch hgnc.symbol:VVS semapv:UnspecifiedMatching OMIM:609290 AK3 skos:exactMatch hgnc.symbol:17376 semapv:UnspecifiedMatching OMIM:609290 AK3 skos:exactMatch hgnc.symbol:AK3 semapv:UnspecifiedMatching OMIM:609290 AK3 skos:exactMatch ncbigene:50808 semapv:UnspecifiedMatching @@ -52964,6 +53575,7 @@ OMIM:609298 SEMA5B skos:exactMatch hgnc.symbol:10737 semapv:UnspecifiedMatching OMIM:609298 SEMA5B skos:exactMatch hgnc.symbol:SEMA5B semapv:UnspecifiedMatching OMIM:609298 SEMA5B skos:exactMatch ncbigene:54437 semapv:UnspecifiedMatching OMIM:609299 prostate cancer, hereditary, 5 skos:exactMatch MONDO:0012244 semapv:UnspecifiedMatching +OMIM:609299 prostate cancer, hereditary, 5 skos:exactMatch hgnc.symbol:HPC5 semapv:UnspecifiedMatching OMIM:609300 CYP17A1 skos:exactMatch hgnc.symbol:2593 semapv:UnspecifiedMatching OMIM:609300 CYP17A1 skos:exactMatch hgnc.symbol:CYP17A1 semapv:UnspecifiedMatching OMIM:609300 CYP17A1 skos:exactMatch ncbigene:1586 semapv:UnspecifiedMatching @@ -53020,6 +53632,8 @@ OMIM:609317 TRIM36 skos:exactMatch ncbigene:55521 semapv:UnspecifiedMatching OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:19018 semapv:UnspecifiedMatching OMIM:609318 TRIM45 skos:exactMatch hgnc.symbol:TRIM45 semapv:UnspecifiedMatching OMIM:609318 TRIM45 skos:exactMatch ncbigene:80263 semapv:UnspecifiedMatching +OMIM:609319 hematocrit/hemoglobin quantitative trait locus 1 skos:exactMatch hgnc.symbol:HCHGQ1 semapv:UnspecifiedMatching +OMIM:609320 hematocrit/hemoglobin quantitative trait locus 2 skos:exactMatch hgnc.symbol:HCHGQ2 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch UMLS:C1822613 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch UMLS:C4225338 semapv:UnspecifiedMatching OMIM:609321 SASS6 skos:exactMatch hgnc.symbol:25403 semapv:UnspecifiedMatching @@ -53112,6 +53726,7 @@ OMIM:609352 epidermolysis bullosa simplex 2e, with migratory circinate erythema OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:27230 semapv:UnspecifiedMatching OMIM:609353 ESCO2 skos:exactMatch hgnc.symbol:ESCO2 semapv:UnspecifiedMatching OMIM:609353 ESCO2 skos:exactMatch ncbigene:157570 semapv:UnspecifiedMatching +OMIM:609354 bone mineral density quantitative trait locus 5 skos:exactMatch hgnc.symbol:BMND5 semapv:UnspecifiedMatching OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:31631 semapv:UnspecifiedMatching OMIM:609355 MIR32 skos:exactMatch hgnc.symbol:MIR32 semapv:UnspecifiedMatching OMIM:609355 MIR32 skos:exactMatch ncbigene:407036 semapv:UnspecifiedMatching @@ -53178,10 +53793,12 @@ OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:30830 semapv:UnspecifiedMatching OMIM:609375 LIN9 skos:exactMatch hgnc.symbol:LIN9 semapv:UnspecifiedMatching OMIM:609375 LIN9 skos:exactMatch ncbigene:286826 semapv:UnspecifiedMatching OMIM:609376 cataract 35 skos:exactMatch MONDO:0012260 semapv:UnspecifiedMatching +OMIM:609376 cataract 35 skos:exactMatch hgnc.symbol:CTRCT35 semapv:UnspecifiedMatching OMIM:609377 ACD skos:exactMatch hgnc.symbol:25070 semapv:UnspecifiedMatching OMIM:609377 ACD skos:exactMatch hgnc.symbol:ACD semapv:UnspecifiedMatching OMIM:609377 ACD skos:exactMatch ncbigene:65057 semapv:UnspecifiedMatching OMIM:609378 autism, susceptibility to, 6 skos:exactMatch MONDO:0012261 semapv:UnspecifiedMatching +OMIM:609378 autism, susceptibility to, 6 skos:exactMatch hgnc.symbol:AUTS6 semapv:UnspecifiedMatching OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:17337 semapv:UnspecifiedMatching OMIM:609379 LCN6 skos:exactMatch hgnc.symbol:LCN6 semapv:UnspecifiedMatching OMIM:609379 LCN6 skos:exactMatch ncbigene:158062 semapv:UnspecifiedMatching @@ -53245,11 +53862,14 @@ OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:15570 semapv:UnspecifiedMatching OMIM:609399 SPESP1 skos:exactMatch hgnc.symbol:SPESP1 semapv:UnspecifiedMatching OMIM:609399 SPESP1 skos:exactMatch ncbigene:246777 semapv:UnspecifiedMatching OMIM:609400 autoimmune disease, susceptibility to, 4 skos:exactMatch MONDO:0012263 semapv:UnspecifiedMatching +OMIM:609400 autoimmune disease, susceptibility to, 4 skos:exactMatch hgnc.symbol:AIS4 semapv:UnspecifiedMatching OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:19134 semapv:UnspecifiedMatching OMIM:609401 HS6ST3 skos:exactMatch hgnc.symbol:HS6ST3 semapv:UnspecifiedMatching OMIM:609401 HS6ST3 skos:exactMatch ncbigene:266722 semapv:UnspecifiedMatching OMIM:609402 preeclampsia/eclampsia 2 skos:exactMatch MONDO:0012264 semapv:UnspecifiedMatching +OMIM:609402 preeclampsia/eclampsia 2 skos:exactMatch hgnc.symbol:PEE2 semapv:UnspecifiedMatching OMIM:609403 preeclampsia/eclampsia 3 skos:exactMatch MONDO:0012265 semapv:UnspecifiedMatching +OMIM:609403 preeclampsia/eclampsia 3 skos:exactMatch hgnc.symbol:PEE3 semapv:UnspecifiedMatching OMIM:609404 preeclampsia/eclampsia 4 skos:exactMatch MONDO:0012266 semapv:UnspecifiedMatching OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:677 semapv:UnspecifiedMatching OMIM:609405 ARHGAP8 skos:exactMatch hgnc.symbol:ARHGAP8 semapv:UnspecifiedMatching @@ -53261,6 +53881,7 @@ OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:19419 semapv:UnspecifiedMatching OMIM:609407 HS3ST5 skos:exactMatch hgnc.symbol:HS3ST5 semapv:UnspecifiedMatching OMIM:609407 HS3ST5 skos:exactMatch ncbigene:222537 semapv:UnspecifiedMatching OMIM:609408 holoprosencephaly 8 skos:exactMatch MONDO:0012267 semapv:UnspecifiedMatching +OMIM:609408 holoprosencephaly 8 skos:exactMatch hgnc.symbol:HPE8 semapv:UnspecifiedMatching OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:5030 semapv:UnspecifiedMatching OMIM:609409 HNRNPA0 skos:exactMatch hgnc.symbol:HNRNPA0 semapv:UnspecifiedMatching OMIM:609409 HNRNPA0 skos:exactMatch ncbigene:10949 semapv:UnspecifiedMatching @@ -53324,6 +53945,7 @@ OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:21253 semapv:UnspecifiedMatching OMIM:609427 LHFPL5 skos:exactMatch hgnc.symbol:LHFPL5 semapv:UnspecifiedMatching OMIM:609427 LHFPL5 skos:exactMatch ncbigene:222662 semapv:UnspecifiedMatching OMIM:609428 tukel syndrome skos:exactMatch MONDO:0012270 semapv:UnspecifiedMatching +OMIM:609428 tukel syndrome skos:exactMatch hgnc.symbol:TUKLS semapv:UnspecifiedMatching OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:21399 semapv:UnspecifiedMatching OMIM:609429 FOXN4 skos:exactMatch hgnc.symbol:FOXN4 semapv:UnspecifiedMatching OMIM:609429 FOXN4 skos:exactMatch ncbigene:121643 semapv:UnspecifiedMatching @@ -53392,6 +54014,7 @@ OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:24876 semapv:UnspecifiedMatching OMIM:609453 GOLGA7 skos:exactMatch hgnc.symbol:GOLGA7 semapv:UnspecifiedMatching OMIM:609453 GOLGA7 skos:exactMatch ncbigene:51125 semapv:UnspecifiedMatching OMIM:609454 supranuclear palsy, progressive, 2 skos:exactMatch MONDO:0012278 semapv:UnspecifiedMatching +OMIM:609454 supranuclear palsy, progressive, 2 skos:exactMatch hgnc.symbol:PSNP2 semapv:UnspecifiedMatching OMIM:609455 PELP1 skos:exactMatch hgnc.symbol:30134 semapv:UnspecifiedMatching OMIM:609455 PELP1 skos:exactMatch hgnc.symbol:PELP1 semapv:UnspecifiedMatching OMIM:609455 PELP1 skos:exactMatch ncbigene:27043 semapv:UnspecifiedMatching @@ -53427,7 +54050,9 @@ OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:30554 semapv:UnspecifiedMatching OMIM:609468 CCL3L3 skos:exactMatch hgnc.symbol:CCL3L3 semapv:UnspecifiedMatching OMIM:609468 CCL3L3 skos:exactMatch ncbigene:414062 semapv:UnspecifiedMatching OMIM:609469 nephropathy, progressive, with deafness skos:exactMatch MONDO:0012284 semapv:UnspecifiedMatching +OMIM:609469 nephropathy, progressive, with deafness skos:exactMatch hgnc.symbol:NEDE semapv:UnspecifiedMatching OMIM:609470 left ventricular noncompaction 2 skos:exactMatch MONDO:0012285 semapv:UnspecifiedMatching +OMIM:609470 left ventricular noncompaction 2 skos:exactMatch hgnc.symbol:LVNC2 semapv:UnspecifiedMatching OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:18986 semapv:UnspecifiedMatching OMIM:609471 GBA2 skos:exactMatch hgnc.symbol:GBA2 semapv:UnspecifiedMatching OMIM:609471 GBA2 skos:exactMatch ncbigene:57704 semapv:UnspecifiedMatching @@ -53662,6 +54287,7 @@ OMIM:609557 PREPL skos:exactMatch hgnc.symbol:30228 semapv:UnspecifiedMatching OMIM:609557 PREPL skos:exactMatch hgnc.symbol:PREPL semapv:UnspecifiedMatching OMIM:609557 PREPL skos:exactMatch ncbigene:9581 semapv:UnspecifiedMatching OMIM:609558 prostate cancer, hereditary, 6 skos:exactMatch MONDO:0012300 semapv:UnspecifiedMatching +OMIM:609558 prostate cancer, hereditary, 6 skos:exactMatch hgnc.symbol:HPC6 semapv:UnspecifiedMatching OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:26276 semapv:UnspecifiedMatching OMIM:609559 CAMKMT skos:exactMatch hgnc.symbol:CAMKMT semapv:UnspecifiedMatching OMIM:609559 CAMKMT skos:exactMatch ncbigene:79823 semapv:UnspecifiedMatching @@ -53682,6 +54308,7 @@ OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:2 OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch hgnc.symbol:MCEMP1 semapv:UnspecifiedMatching OMIM:609565 mast cell-expressed membrane protein 1 skos:exactMatch ncbigene:199675 semapv:UnspecifiedMatching OMIM:609566 parietal foramina 3 skos:exactMatch MONDO:0012302 semapv:UnspecifiedMatching +OMIM:609566 parietal foramina 3 skos:exactMatch hgnc.symbol:PFM3 semapv:UnspecifiedMatching OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:18590 semapv:UnspecifiedMatching OMIM:609567 PNPLA3 skos:exactMatch hgnc.symbol:PNPLA3 semapv:UnspecifiedMatching OMIM:609567 PNPLA3 skos:exactMatch ncbigene:80339 semapv:UnspecifiedMatching @@ -53689,11 +54316,14 @@ OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:18357 semapv:UnspecifiedMatchi OMIM:609568 ARHGAP20 skos:exactMatch hgnc.symbol:ARHGAP20 semapv:UnspecifiedMatching OMIM:609568 ARHGAP20 skos:exactMatch ncbigene:57569 semapv:UnspecifiedMatching OMIM:609570 migraine with or without aura, susceptibility to, 8 skos:exactMatch MONDO:0012303 semapv:UnspecifiedMatching +OMIM:609570 migraine with or without aura, susceptibility to, 8 skos:exactMatch hgnc.symbol:MGR8 semapv:UnspecifiedMatching OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:24750 semapv:UnspecifiedMatching OMIM:609571 ZNF699 skos:exactMatch hgnc.symbol:ZNF699 semapv:UnspecifiedMatching OMIM:609571 ZNF699 skos:exactMatch ncbigene:374879 semapv:UnspecifiedMatching OMIM:609572 photoparoxysmal response 2 skos:exactMatch MONDO:0012304 semapv:UnspecifiedMatching +OMIM:609572 photoparoxysmal response 2 skos:exactMatch hgnc.symbol:PPR2 semapv:UnspecifiedMatching OMIM:609573 photoparoxysmal response 3 skos:exactMatch MONDO:0012305 semapv:UnspecifiedMatching +OMIM:609573 photoparoxysmal response 3 skos:exactMatch hgnc.symbol:PPR3 semapv:UnspecifiedMatching OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:18646 semapv:UnspecifiedMatching OMIM:609574 HSD17B12 skos:exactMatch hgnc.symbol:HSD17B12 semapv:UnspecifiedMatching OMIM:609574 HSD17B12 skos:exactMatch ncbigene:51144 semapv:UnspecifiedMatching @@ -53707,6 +54337,7 @@ OMIM:609577 CUL7 skos:exactMatch hgnc.symbol:21024 semapv:UnspecifiedMatching OMIM:609577 CUL7 skos:exactMatch hgnc.symbol:CUL7 semapv:UnspecifiedMatching OMIM:609577 CUL7 skos:exactMatch ncbigene:9820 semapv:UnspecifiedMatching OMIM:609578 cardiomyopathy, familial restrictive, 2 skos:exactMatch MONDO:0012306 semapv:UnspecifiedMatching +OMIM:609578 cardiomyopathy, familial restrictive, 2 skos:exactMatch hgnc.symbol:RCM2 semapv:UnspecifiedMatching OMIM:609579 scaphocephaly, maxillary retrusion, and impaired intellectual development skos:exactMatch MONDO:0012307 semapv:UnspecifiedMatching OMIM:609580 NINL skos:exactMatch hgnc.symbol:29163 semapv:UnspecifiedMatching OMIM:609580 NINL skos:exactMatch hgnc.symbol:NINL semapv:UnspecifiedMatching @@ -53842,6 +54473,7 @@ OMIM:609627 TAS2R50 skos:exactMatch ncbigene:259296 semapv:UnspecifiedMatching OMIM:609628 majeed syndrome skos:exactMatch MONDO:0012316 semapv:UnspecifiedMatching OMIM:609629 visceral neuropathy, familial, 3, autosomal dominant skos:exactMatch MONDO:0012317 semapv:UnspecifiedMatching OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch MONDO:0012318 semapv:UnspecifiedMatching +OMIM:609630 leukemia, chronic lymphocytic, susceptibility to, 1 skos:exactMatch hgnc.symbol:CLLS1 semapv:UnspecifiedMatching OMIM:609631 DDX58 skos:exactMatch UMLS:C1539233 semapv:UnspecifiedMatching OMIM:609631 DDX58 skos:exactMatch UMLS:C4225380 semapv:UnspecifiedMatching OMIM:609631 DDX58 skos:exactMatch hgnc.symbol:RIGI semapv:UnspecifiedMatching @@ -53850,6 +54482,7 @@ OMIM:609632 GDPD5 skos:exactMatch hgnc.symbol:28804 semapv:UnspecifiedMatching OMIM:609632 GDPD5 skos:exactMatch hgnc.symbol:GDPD5 semapv:UnspecifiedMatching OMIM:609632 GDPD5 skos:exactMatch ncbigene:81544 semapv:UnspecifiedMatching OMIM:609633 major affective disorder 3 skos:exactMatch MONDO:0012319 semapv:UnspecifiedMatching +OMIM:609633 major affective disorder 3 skos:exactMatch hgnc.symbol:MAFD3 semapv:UnspecifiedMatching OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch MONDO:0012320 semapv:UnspecifiedMatching OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch Orphanet:569 semapv:UnspecifiedMatching OMIM:609634 migraine, familial hemiplegic, 3 skos:exactMatch UMLS:C1864987 semapv:UnspecifiedMatching @@ -53857,6 +54490,7 @@ OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:18602 semapv:UnspecifiedMatching OMIM:609635 TCF23 skos:exactMatch hgnc.symbol:TCF23 semapv:UnspecifiedMatching OMIM:609635 TCF23 skos:exactMatch ncbigene:150921 semapv:UnspecifiedMatching OMIM:609636 alzheimer disease 10 skos:exactMatch MONDO:0012321 semapv:UnspecifiedMatching +OMIM:609636 alzheimer disease 10 skos:exactMatch hgnc.symbol:AD10 semapv:UnspecifiedMatching OMIM:609637 holoprosencephaly 5 skos:exactMatch MONDO:0012322 semapv:UnspecifiedMatching OMIM:609638 epidermolysis bullosa, lethal acantholytic skos:exactMatch MONDO:0012323 semapv:UnspecifiedMatching OMIM:609639 hemoglobin mu skos:exactMatch hgnc.symbol:4826 semapv:UnspecifiedMatching @@ -53876,10 +54510,12 @@ OMIM:609645 NLRP4 skos:exactMatch hgnc.symbol:NLRP4 semapv:UnspecifiedMatching OMIM:609645 NLRP4 skos:exactMatch ncbigene:147945 semapv:UnspecifiedMatching OMIM:609646 deafness, autosomal recessive 42 skos:exactMatch MONDO:0012326 semapv:UnspecifiedMatching OMIM:609647 deafness, autosomal recessive 46 skos:exactMatch MONDO:0012327 semapv:UnspecifiedMatching +OMIM:609647 deafness, autosomal recessive 46 skos:exactMatch hgnc.symbol:DFNB46 semapv:UnspecifiedMatching OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:22938 semapv:UnspecifiedMatching OMIM:609648 NLRP12 skos:exactMatch hgnc.symbol:NLRP12 semapv:UnspecifiedMatching OMIM:609648 NLRP12 skos:exactMatch ncbigene:91662 semapv:UnspecifiedMatching OMIM:609649 trichilemmal cyst 1 skos:exactMatch MONDO:0012328 semapv:UnspecifiedMatching +OMIM:609649 trichilemmal cyst 1 skos:exactMatch hgnc.symbol:TRICY1 semapv:UnspecifiedMatching OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:22944 semapv:UnspecifiedMatching OMIM:609650 NLRP6 skos:exactMatch hgnc.symbol:NLRP6 semapv:UnspecifiedMatching OMIM:609650 NLRP6 skos:exactMatch ncbigene:171389 semapv:UnspecifiedMatching @@ -53894,6 +54530,8 @@ OMIM:609653 NDUFAF2 skos:exactMatch hgnc.symbol:NDUFAF2 semapv:UnspecifiedMatch OMIM:609653 NDUFAF2 skos:exactMatch ncbigene:91942 semapv:UnspecifiedMatching OMIM:609654 short stature and facioauriculothoracic malformations skos:exactMatch MONDO:0012329 semapv:UnspecifiedMatching OMIM:609655 talo-patello-scaphoid osteolysis, synovitis, and short fourth metacarpals skos:exactMatch MONDO:0012330 semapv:UnspecifiedMatching +OMIM:609656 bone size quantitative trait locus 1 skos:exactMatch hgnc.symbol:BSZQTL semapv:UnspecifiedMatching +OMIM:609657 bone size quantitative trait locus 2 skos:exactMatch hgnc.symbol:BSZQTL2 semapv:UnspecifiedMatching OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:21269 semapv:UnspecifiedMatching OMIM:609658 NLRP5 skos:exactMatch hgnc.symbol:NLRP5 semapv:UnspecifiedMatching OMIM:609658 NLRP5 skos:exactMatch ncbigene:126206 semapv:UnspecifiedMatching @@ -53932,6 +54570,7 @@ OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:30696 semapv:UnspecifiedMatching OMIM:609669 WDR36 skos:exactMatch hgnc.symbol:WDR36 semapv:UnspecifiedMatching OMIM:609669 WDR36 skos:exactMatch ncbigene:134430 semapv:UnspecifiedMatching OMIM:609670 migraine with aura, susceptibility to, 9 skos:exactMatch MONDO:0012331 semapv:UnspecifiedMatching +OMIM:609670 migraine with aura, susceptibility to, 9 skos:exactMatch hgnc.symbol:MGR9 semapv:UnspecifiedMatching OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:24592 semapv:UnspecifiedMatching OMIM:609671 STEAP3 skos:exactMatch hgnc.symbol:STEAP3 semapv:UnspecifiedMatching OMIM:609671 STEAP3 skos:exactMatch ncbigene:55240 semapv:UnspecifiedMatching @@ -54109,6 +54748,7 @@ OMIM:609726 YPEL5 skos:exactMatch ncbigene:51646 semapv:UnspecifiedMatching OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch MONDO:0012334 semapv:UnspecifiedMatching OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch Orphanet:101009 semapv:UnspecifiedMatching OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch UMLS:C1857855 semapv:UnspecifiedMatching +OMIM:609727 spastic paraplegia 29, autosomal dominant skos:exactMatch hgnc.symbol:SPG29 semapv:UnspecifiedMatching OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:25133 semapv:UnspecifiedMatching OMIM:609728 MARS2 skos:exactMatch hgnc.symbol:MARS2 semapv:UnspecifiedMatching OMIM:609728 MARS2 skos:exactMatch ncbigene:92935 semapv:UnspecifiedMatching @@ -54158,6 +54798,7 @@ OMIM:609744 CADM4 skos:exactMatch hgnc.symbol:30825 semapv:UnspecifiedMatching OMIM:609744 CADM4 skos:exactMatch hgnc.symbol:CADM4 semapv:UnspecifiedMatching OMIM:609744 CADM4 skos:exactMatch ncbigene:199731 semapv:UnspecifiedMatching OMIM:609745 glaucoma 1, open angle, 1 skos:exactMatch MONDO:0012337 semapv:UnspecifiedMatching +OMIM:609745 glaucoma 1, open angle, 1 skos:exactMatch hgnc.symbol:GLC1I semapv:UnspecifiedMatching OMIM:609746 ARHGAP10 skos:exactMatch hgnc.symbol:26099 semapv:UnspecifiedMatching OMIM:609746 ARHGAP10 skos:exactMatch hgnc.symbol:ARHGAP10 semapv:UnspecifiedMatching OMIM:609746 ARHGAP10 skos:exactMatch ncbigene:79658 semapv:UnspecifiedMatching @@ -54171,6 +54812,7 @@ OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:17729 semapv:UnspecifiedMatching OMIM:609749 UXS1 skos:exactMatch hgnc.symbol:UXS1 semapv:UnspecifiedMatching OMIM:609749 UXS1 skos:exactMatch ncbigene:80146 semapv:UnspecifiedMatching OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch MONDO:0012338 semapv:UnspecifiedMatching +OMIM:609750 epilepsy, idiopathic generalized, susceptibility to, 4 skos:exactMatch hgnc.symbol:EIG4 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C1412128 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C1849678 semapv:UnspecifiedMatching OMIM:609751 ACOX1 skos:exactMatch UMLS:C5394554 semapv:UnspecifiedMatching @@ -54182,6 +54824,7 @@ OMIM:609752 NCOA7 skos:exactMatch hgnc.symbol:NCOA7 semapv:UnspecifiedMatching OMIM:609752 NCOA7 skos:exactMatch ncbigene:135112 semapv:UnspecifiedMatching OMIM:609753 celiac disease, susceptibility to, 4 skos:exactMatch MONDO:0012339 semapv:UnspecifiedMatching OMIM:609754 celiac disease, susceptibility to, 2 skos:exactMatch MONDO:0012340 semapv:UnspecifiedMatching +OMIM:609754 celiac disease, susceptibility to, 2 skos:exactMatch hgnc.symbol:CELIAC2 semapv:UnspecifiedMatching OMIM:609755 celiac disease, susceptibility to, 3 skos:exactMatch MONDO:0012341 semapv:UnspecifiedMatching OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:15781 semapv:UnspecifiedMatching OMIM:609756 CHRFAM7A skos:exactMatch hgnc.symbol:CHRFAM7A semapv:UnspecifiedMatching @@ -54260,6 +54903,7 @@ OMIM:609780 CPVL skos:exactMatch hgnc.symbol:14399 semapv:UnspecifiedMatching OMIM:609780 CPVL skos:exactMatch hgnc.symbol:CPVL semapv:UnspecifiedMatching OMIM:609780 CPVL skos:exactMatch ncbigene:54504 semapv:UnspecifiedMatching OMIM:609782 aortic aneurysm, familial abdominal, 2 skos:exactMatch MONDO:0012343 semapv:UnspecifiedMatching +OMIM:609782 aortic aneurysm, familial abdominal, 2 skos:exactMatch hgnc.symbol:AAA2 semapv:UnspecifiedMatching OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:21449 semapv:UnspecifiedMatching OMIM:609783 ITIH5 skos:exactMatch hgnc.symbol:ITIH5 semapv:UnspecifiedMatching OMIM:609783 ITIH5 skos:exactMatch ncbigene:80760 semapv:UnspecifiedMatching @@ -54282,6 +54926,7 @@ OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:19941 semapv:UnspecifiedMatching OMIM:609789 AQP12A skos:exactMatch hgnc.symbol:AQP12A semapv:UnspecifiedMatching OMIM:609789 AQP12A skos:exactMatch ncbigene:375318 semapv:UnspecifiedMatching OMIM:609790 alzheimer disease 11 skos:exactMatch MONDO:0012344 semapv:UnspecifiedMatching +OMIM:609790 alzheimer disease 11 skos:exactMatch hgnc.symbol:AD11 semapv:UnspecifiedMatching OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:21205 semapv:UnspecifiedMatching OMIM:609791 LINGO1 skos:exactMatch hgnc.symbol:LINGO1 semapv:UnspecifiedMatching OMIM:609791 LINGO1 skos:exactMatch ncbigene:84894 semapv:UnspecifiedMatching @@ -54308,6 +54953,7 @@ OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:13387 semapv:UnspecifiedMatching OMIM:609799 NEK8 skos:exactMatch hgnc.symbol:NEK8 semapv:UnspecifiedMatching OMIM:609799 NEK8 skos:exactMatch ncbigene:284086 semapv:UnspecifiedMatching OMIM:609800 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch MONDO:0012346 semapv:UnspecifiedMatching +OMIM:609800 generalized epilepsy with febrile seizures plus, type 4 skos:exactMatch hgnc.symbol:GEFSP4 semapv:UnspecifiedMatching OMIM:609801 CD300E skos:exactMatch hgnc.symbol:28874 semapv:UnspecifiedMatching OMIM:609801 CD300E skos:exactMatch hgnc.symbol:CD300E semapv:UnspecifiedMatching OMIM:609801 CD300E skos:exactMatch ncbigene:342510 semapv:UnspecifiedMatching @@ -54346,6 +54992,7 @@ OMIM:609812 maturity-onset diabetes of the young, type 8, with exocrine dysfunct OMIM:609813 spondylocostal dysostosis 3, autosomal recessive skos:exactMatch MONDO:0012349 semapv:UnspecifiedMatching OMIM:609814 complement factor h deficiency skos:exactMatch MONDO:0012350 semapv:UnspecifiedMatching OMIM:609815 zygodactyly 1 skos:exactMatch MONDO:0012351 semapv:UnspecifiedMatching +OMIM:609815 zygodactyly 1 skos:exactMatch hgnc.symbol:ZD1 semapv:UnspecifiedMatching OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:20681 semapv:UnspecifiedMatching OMIM:609816 NBEAL1 skos:exactMatch hgnc.symbol:NBEAL1 semapv:UnspecifiedMatching OMIM:609816 NBEAL1 skos:exactMatch ncbigene:65065 semapv:UnspecifiedMatching @@ -54358,6 +55005,7 @@ OMIM:609819 PRAC1 skos:exactMatch hgnc.symbol:PRAC1 semapv:UnspecifiedMatching OMIM:609819 PRAC1 skos:exactMatch ncbigene:84366 semapv:UnspecifiedMatching OMIM:609820 erythrocytosis, familial, 3 skos:exactMatch MONDO:0012353 semapv:UnspecifiedMatching OMIM:609821 bleeding disorder, platelet-type, 8 skos:exactMatch MONDO:0012354 semapv:UnspecifiedMatching +OMIM:609822 stature quantitative trait locus 7 skos:exactMatch hgnc.symbol:STQTL7 semapv:UnspecifiedMatching OMIM:609823 deafness, autosomal recessive 28 skos:exactMatch MONDO:0012355 semapv:UnspecifiedMatching OMIM:609824 HORMAD1 skos:exactMatch UMLS:C1539674 semapv:UnspecifiedMatching OMIM:609824 HORMAD1 skos:exactMatch hgnc.symbol:25245 semapv:UnspecifiedMatching @@ -54520,6 +55168,7 @@ OMIM:609874 ITLN2 skos:exactMatch ncbigene:142683 semapv:UnspecifiedMatching OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:13907 semapv:UnspecifiedMatching OMIM:609875 ATOH7 skos:exactMatch hgnc.symbol:ATOH7 semapv:UnspecifiedMatching OMIM:609875 ATOH7 skos:exactMatch ncbigene:220202 semapv:UnspecifiedMatching +OMIM:609876 bone mineral density quantitative trait locus 6 skos:exactMatch hgnc.symbol:BMND6 semapv:UnspecifiedMatching OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:18246 semapv:UnspecifiedMatching OMIM:609877 CRYL1 skos:exactMatch hgnc.symbol:CRYL1 semapv:UnspecifiedMatching OMIM:609877 CRYL1 skos:exactMatch ncbigene:51084 semapv:UnspecifiedMatching @@ -54564,6 +55213,7 @@ OMIM:609887 glaucoma 1, open angle, g skos:exactMatch MONDO:0012357 semapv:Unsp OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch MONDO:0012358 semapv:UnspecifiedMatching OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch Orphanet:548 semapv:UnspecifiedMatching OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch UMLS:C1835932 semapv:UnspecifiedMatching +OMIM:609888 leprosy, susceptibility to, 1 skos:exactMatch hgnc.symbol:LPRS semapv:UnspecifiedMatching OMIM:609889 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity skos:exactMatch MONDO:0012359 semapv:UnspecifiedMatching OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:30313 semapv:UnspecifiedMatching OMIM:609890 UBR4 skos:exactMatch hgnc.symbol:UBR4 semapv:UnspecifiedMatching @@ -54603,6 +55253,7 @@ OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:26795 semapv:UnspecifiedMatching OMIM:609901 ANKS4B skos:exactMatch hgnc.symbol:ANKS4B semapv:UnspecifiedMatching OMIM:609901 ANKS4B skos:exactMatch ncbigene:257629 semapv:UnspecifiedMatching OMIM:609903 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch MONDO:0012361 semapv:UnspecifiedMatching +OMIM:609903 systemic lupus erythematosus, susceptibility to, 5 skos:exactMatch hgnc.symbol:SLEB5 semapv:UnspecifiedMatching OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:18730 semapv:UnspecifiedMatching OMIM:609904 HIST1H2BA skos:exactMatch hgnc.symbol:H2BC1 semapv:UnspecifiedMatching OMIM:609904 HIST1H2BA skos:exactMatch ncbigene:255626 semapv:UnspecifiedMatching @@ -54638,6 +55289,7 @@ OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:19940 semapv:UnspecifiedMatching OMIM:609914 AQP11 skos:exactMatch hgnc.symbol:AQP11 semapv:UnspecifiedMatching OMIM:609914 AQP11 skos:exactMatch ncbigene:282679 semapv:UnspecifiedMatching OMIM:609915 cardiomyopathy, dilated, 1q skos:exactMatch MONDO:0012364 semapv:UnspecifiedMatching +OMIM:609915 cardiomyopathy, dilated, 1q skos:exactMatch hgnc.symbol:CMD1Q semapv:UnspecifiedMatching OMIM:609916 AZI2 skos:exactMatch UMLS:C1538310 semapv:UnspecifiedMatching OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:24002 semapv:UnspecifiedMatching OMIM:609916 AZI2 skos:exactMatch hgnc.symbol:AZI2 semapv:UnspecifiedMatching @@ -54646,7 +55298,9 @@ OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:17276 semapv:UnspecifiedMatching OMIM:609917 PRNPIP skos:exactMatch hgnc.symbol:ERI3 semapv:UnspecifiedMatching OMIM:609917 PRNPIP skos:exactMatch ncbigene:79033 semapv:UnspecifiedMatching OMIM:609918 gallbladder disease 2 skos:exactMatch MONDO:0012365 semapv:UnspecifiedMatching +OMIM:609918 gallbladder disease 2 skos:exactMatch hgnc.symbol:GBD2 semapv:UnspecifiedMatching OMIM:609919 gallbladder disease 3 skos:exactMatch MONDO:0012366 semapv:UnspecifiedMatching +OMIM:609919 gallbladder disease 3 skos:exactMatch hgnc.symbol:GBD3 semapv:UnspecifiedMatching OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:13251 semapv:UnspecifiedMatching OMIM:609920 CDH22 skos:exactMatch hgnc.symbol:CDH22 semapv:UnspecifiedMatching OMIM:609920 CDH22 skos:exactMatch ncbigene:64405 semapv:UnspecifiedMatching @@ -54702,12 +55356,14 @@ OMIM:609938 CADM2 skos:exactMatch hgnc.symbol:CADM2 semapv:UnspecifiedMatching OMIM:609938 CADM2 skos:exactMatch ncbigene:253559 semapv:UnspecifiedMatching OMIM:609939 systemic lupus erythematosus, susceptibility to, 6 skos:exactMatch MONDO:0012369 semapv:UnspecifiedMatching OMIM:609941 deafness, autosomal recessive 51 skos:exactMatch MONDO:0012370 semapv:UnspecifiedMatching +OMIM:609941 deafness, autosomal recessive 51 skos:exactMatch hgnc.symbol:DFNB51 semapv:UnspecifiedMatching OMIM:609942 noonan syndrome 3 skos:exactMatch MONDO:0012371 semapv:UnspecifiedMatching OMIM:609942 noonan syndrome 3 skos:exactMatch Orphanet:648 semapv:UnspecifiedMatching OMIM:609942 noonan syndrome 3 skos:exactMatch UMLS:C1860991 semapv:UnspecifiedMatching OMIM:609944 ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features skos:exactMatch MONDO:0012373 semapv:UnspecifiedMatching OMIM:609945 brachyphalangy, polydactyly, and tibial aplasia/hypoplasia skos:exactMatch MONDO:0012374 semapv:UnspecifiedMatching OMIM:609946 deafness, autosomal recessive 47 skos:exactMatch MONDO:0012375 semapv:UnspecifiedMatching +OMIM:609946 deafness, autosomal recessive 47 skos:exactMatch hgnc.symbol:DFNB47 semapv:UnspecifiedMatching OMIM:609947 PRORP skos:exactMatch hgnc.symbol:19958 semapv:UnspecifiedMatching OMIM:609947 PRORP skos:exactMatch hgnc.symbol:PRORP semapv:UnspecifiedMatching OMIM:609947 PRORP skos:exactMatch ncbigene:9692 semapv:UnspecifiedMatching @@ -54725,12 +55381,15 @@ OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:11955 semapv:UnspecifiedMatching OMIM:609951 ZNF384 skos:exactMatch hgnc.symbol:ZNF384 semapv:UnspecifiedMatching OMIM:609951 ZNF384 skos:exactMatch ncbigene:171017 semapv:UnspecifiedMatching OMIM:609952 deafness, autosomal recessive 55 skos:exactMatch MONDO:0012376 semapv:UnspecifiedMatching +OMIM:609952 deafness, autosomal recessive 55 skos:exactMatch hgnc.symbol:DFNB55 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch UMLS:C1826770 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:25577 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch hgnc.symbol:RAVER2 semapv:UnspecifiedMatching OMIM:609953 RAVER2 skos:exactMatch ncbigene:55225 semapv:UnspecifiedMatching OMIM:609954 asperger syndrome, susceptibility to, 4 skos:exactMatch MONDO:0012377 semapv:UnspecifiedMatching +OMIM:609954 asperger syndrome, susceptibility to, 4 skos:exactMatch hgnc.symbol:ASPG4 semapv:UnspecifiedMatching OMIM:609955 fibromatosis, gingival, 3 skos:exactMatch MONDO:0012378 semapv:UnspecifiedMatching +OMIM:609955 fibromatosis, gingival, 3 skos:exactMatch hgnc.symbol:GINGF3 semapv:UnspecifiedMatching OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:30268 semapv:UnspecifiedMatching OMIM:609956 RAB37 skos:exactMatch hgnc.symbol:RAB37 semapv:UnspecifiedMatching OMIM:609956 RAB37 skos:exactMatch ncbigene:326624 semapv:UnspecifiedMatching @@ -54738,6 +55397,7 @@ OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:20785 semapv:UnspecifiedMatching OMIM:609957 PPM1J skos:exactMatch hgnc.symbol:PPM1J semapv:UnspecifiedMatching OMIM:609957 PPM1J skos:exactMatch ncbigene:333926 semapv:UnspecifiedMatching OMIM:609958 asthma-related traits, susceptibility to, 3 skos:exactMatch MONDO:0012379 semapv:UnspecifiedMatching +OMIM:609958 asthma-related traits, susceptibility to, 3 skos:exactMatch hgnc.symbol:ASRT3 semapv:UnspecifiedMatching OMIM:609959 MYADM skos:exactMatch hgnc.symbol:7544 semapv:UnspecifiedMatching OMIM:609959 MYADM skos:exactMatch hgnc.symbol:MYADM semapv:UnspecifiedMatching OMIM:609959 MYADM skos:exactMatch ncbigene:91663 semapv:UnspecifiedMatching @@ -54759,6 +55419,7 @@ OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:14554 semapv:UnspecifiedMatching OMIM:609964 CLEC4D skos:exactMatch hgnc.symbol:CLEC4D semapv:UnspecifiedMatching OMIM:609964 CLEC4D skos:exactMatch ncbigene:338339 semapv:UnspecifiedMatching OMIM:609965 deafness, autosomal dominant 53 skos:exactMatch MONDO:0012380 semapv:UnspecifiedMatching +OMIM:609965 deafness, autosomal dominant 53 skos:exactMatch hgnc.symbol:DFNA53 semapv:UnspecifiedMatching OMIM:609966 GGN skos:exactMatch hgnc.symbol:18869 semapv:UnspecifiedMatching OMIM:609966 GGN skos:exactMatch hgnc.symbol:GGN semapv:UnspecifiedMatching OMIM:609966 GGN skos:exactMatch ncbigene:199720 semapv:UnspecifiedMatching @@ -54814,6 +55475,7 @@ OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:25468 semapv:UnspecifiedMatching OMIM:609984 ZWILCH skos:exactMatch hgnc.symbol:ZWILCH semapv:UnspecifiedMatching OMIM:609984 ZWILCH skos:exactMatch ncbigene:55055 semapv:UnspecifiedMatching OMIM:609985 panic disorder 3 skos:exactMatch MONDO:0012384 semapv:UnspecifiedMatching +OMIM:609985 panic disorder 3 skos:exactMatch hgnc.symbol:PAND3 semapv:UnspecifiedMatching OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:16394 semapv:UnspecifiedMatching OMIM:609986 CARD6 skos:exactMatch hgnc.symbol:CARD6 semapv:UnspecifiedMatching OMIM:609986 CARD6 skos:exactMatch ncbigene:84674 semapv:UnspecifiedMatching @@ -54834,7 +55496,9 @@ OMIM:609992 POP5 skos:exactMatch hgnc.symbol:POP5 semapv:UnspecifiedMatching OMIM:609992 POP5 skos:exactMatch ncbigene:51367 semapv:UnspecifiedMatching OMIM:609993 osteosclerosis with ichthyosis and premature ovarian failure skos:exactMatch MONDO:0012387 semapv:UnspecifiedMatching OMIM:609994 myopia 11, autosomal dominant skos:exactMatch MONDO:0012388 semapv:UnspecifiedMatching +OMIM:609994 myopia 11, autosomal dominant skos:exactMatch hgnc.symbol:MYP11 semapv:UnspecifiedMatching OMIM:609995 myopia 12, autosomal dominant skos:exactMatch MONDO:0012389 semapv:UnspecifiedMatching +OMIM:609995 myopia 12, autosomal dominant skos:exactMatch hgnc.symbol:MYP12 semapv:UnspecifiedMatching OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:22442 semapv:UnspecifiedMatching OMIM:609996 COL28A1 skos:exactMatch hgnc.symbol:COL28A1 semapv:UnspecifiedMatching OMIM:609996 COL28A1 skos:exactMatch ncbigene:340267 semapv:UnspecifiedMatching @@ -55030,8 +55694,11 @@ OMIM:610063 DNAH17 skos:exactMatch hgnc.symbol:2946 semapv:UnspecifiedMatching OMIM:610063 DNAH17 skos:exactMatch hgnc.symbol:DNAH17 semapv:UnspecifiedMatching OMIM:610063 DNAH17 skos:exactMatch ncbigene:8632 semapv:UnspecifiedMatching OMIM:610064 opioid dependence, susceptibility to, 1 skos:exactMatch MONDO:0012402 semapv:UnspecifiedMatching +OMIM:610064 opioid dependence, susceptibility to, 1 skos:exactMatch hgnc.symbol:ODS1 semapv:UnspecifiedMatching OMIM:610065 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch MONDO:0012403 semapv:UnspecifiedMatching +OMIM:610065 systemic lupus erythematosus, susceptibility to, 7 skos:exactMatch hgnc.symbol:SLEB7 semapv:UnspecifiedMatching OMIM:610066 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch MONDO:0012404 semapv:UnspecifiedMatching +OMIM:610066 systemic lupus erythematosus, susceptibility to, 8 skos:exactMatch hgnc.symbol:SLEB8 semapv:UnspecifiedMatching OMIM:610067 MYO18A skos:exactMatch hgnc.symbol:31104 semapv:UnspecifiedMatching OMIM:610067 MYO18A skos:exactMatch hgnc.symbol:MYO18A semapv:UnspecifiedMatching OMIM:610067 MYO18A skos:exactMatch ncbigene:399687 semapv:UnspecifiedMatching @@ -55043,6 +55710,7 @@ OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:26118 semapv:U OMIM:610070 aster-associated protein skos:exactMatch hgnc.symbol:MAP9 semapv:UnspecifiedMatching OMIM:610070 aster-associated protein skos:exactMatch ncbigene:79884 semapv:UnspecifiedMatching OMIM:610071 hyperparathyroidism 3 skos:exactMatch MONDO:0012406 semapv:UnspecifiedMatching +OMIM:610071 hyperparathyroidism 3 skos:exactMatch hgnc.symbol:HRPT3 semapv:UnspecifiedMatching OMIM:610072 ERMN skos:exactMatch hgnc.symbol:29208 semapv:UnspecifiedMatching OMIM:610072 ERMN skos:exactMatch hgnc.symbol:ERMN semapv:UnspecifiedMatching OMIM:610072 ERMN skos:exactMatch ncbigene:57471 semapv:UnspecifiedMatching @@ -55166,6 +55834,7 @@ OMIM:610112 CMIP skos:exactMatch ncbigene:80790 semapv:UnspecifiedMatching OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:19706 semapv:UnspecifiedMatching OMIM:610113 ADAMTSL4 skos:exactMatch hgnc.symbol:ADAMTSL4 semapv:UnspecifiedMatching OMIM:610113 ADAMTSL4 skos:exactMatch ncbigene:54507 semapv:UnspecifiedMatching +OMIM:610114 stature quantitative trait locus 8 skos:exactMatch hgnc.symbol:STQTL8 semapv:UnspecifiedMatching OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:25525 semapv:UnspecifiedMatching OMIM:610115 TMEM48 skos:exactMatch hgnc.symbol:NDC1 semapv:UnspecifiedMatching OMIM:610115 TMEM48 skos:exactMatch ncbigene:55706 semapv:UnspecifiedMatching @@ -55233,10 +55902,12 @@ OMIM:610139 ST8SIA6 skos:exactMatch hgnc.symbol:23317 semapv:UnspecifiedMatchin OMIM:610139 ST8SIA6 skos:exactMatch hgnc.symbol:ST8SIA6 semapv:UnspecifiedMatching OMIM:610139 ST8SIA6 skos:exactMatch ncbigene:338596 semapv:UnspecifiedMatching OMIM:610140 heart-hand syndrome, slovenian type skos:exactMatch MONDO:0012417 semapv:UnspecifiedMatching +OMIM:610141 qt interval, variation 1n skos:exactMatch hgnc.symbol:QTV semapv:UnspecifiedMatching OMIM:610142 CEP290 skos:exactMatch hgnc.symbol:29021 semapv:UnspecifiedMatching OMIM:610142 CEP290 skos:exactMatch hgnc.symbol:CEP290 semapv:UnspecifiedMatching OMIM:610142 CEP290 skos:exactMatch ncbigene:80184 semapv:UnspecifiedMatching OMIM:610143 deafness, autosomal recessive 62 skos:exactMatch MONDO:0012418 semapv:UnspecifiedMatching +OMIM:610143 deafness, autosomal recessive 62 skos:exactMatch hgnc.symbol:DFNB62 semapv:UnspecifiedMatching OMIM:610144 TBC1D3B skos:exactMatch hgnc.symbol:27011 semapv:UnspecifiedMatching OMIM:610144 TBC1D3B skos:exactMatch hgnc.symbol:TBC1D3B semapv:UnspecifiedMatching OMIM:610144 TBC1D3B skos:exactMatch ncbigene:414059 semapv:UnspecifiedMatching @@ -55269,6 +55940,7 @@ OMIM:610155 type 1 diabetes mellitus 19 skos:exactMatch UMLS:C1857808 semapv:Un OMIM:610156 impaired intellectual development, truncal obesity, retinal dystrophy, and micropenis syndrome skos:exactMatch MONDO:0012423 semapv:UnspecifiedMatching OMIM:610157 heat-shock RNA 1 skos:exactMatch MONDO:0012424 semapv:UnspecifiedMatching OMIM:610158 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch MONDO:0012425 semapv:UnspecifiedMatching +OMIM:610158 corneal dystrophy, fuchs endothelial, 2 skos:exactMatch hgnc.symbol:FECD2 semapv:UnspecifiedMatching OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:18316 semapv:UnspecifiedMatching OMIM:610159 ZNF366 skos:exactMatch hgnc.symbol:ZNF366 semapv:UnspecifiedMatching OMIM:610159 ZNF366 skos:exactMatch ncbigene:167465 semapv:UnspecifiedMatching @@ -55299,6 +55971,7 @@ OMIM:610169 INO80 skos:exactMatch hgnc.symbol:26956 semapv:UnspecifiedMatching OMIM:610169 INO80 skos:exactMatch hgnc.symbol:INO80 semapv:UnspecifiedMatching OMIM:610169 INO80 skos:exactMatch ncbigene:54617 semapv:UnspecifiedMatching OMIM:610170 kyphoscoliosis 1 skos:exactMatch MONDO:0012428 semapv:UnspecifiedMatching +OMIM:610170 kyphoscoliosis 1 skos:exactMatch hgnc.symbol:KYPSC1 semapv:UnspecifiedMatching OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:24193 semapv:UnspecifiedMatching OMIM:610171 CALML6 skos:exactMatch hgnc.symbol:CALML6 semapv:UnspecifiedMatching OMIM:610171 CALML6 skos:exactMatch ncbigene:163688 semapv:UnspecifiedMatching @@ -55395,7 +56068,9 @@ OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:11035 semapv:UnspecifiedMatching OMIM:610207 SLC4A9 skos:exactMatch hgnc.symbol:SLC4A9 semapv:UnspecifiedMatching OMIM:610207 SLC4A9 skos:exactMatch ncbigene:83697 semapv:UnspecifiedMatching OMIM:610208 migraine with or without aura, susceptibility to, 10 skos:exactMatch MONDO:0012440 semapv:UnspecifiedMatching +OMIM:610208 migraine with or without aura, susceptibility to, 10 skos:exactMatch hgnc.symbol:MGR10 semapv:UnspecifiedMatching OMIM:610209 migraine with or without aura, susceptibility to, 11 skos:exactMatch MONDO:0012441 semapv:UnspecifiedMatching +OMIM:610209 migraine with or without aura, susceptibility to, 11 skos:exactMatch hgnc.symbol:MGR11 semapv:UnspecifiedMatching OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:24966 semapv:UnspecifiedMatching OMIM:610210 MAF1 skos:exactMatch hgnc.symbol:MAF1 semapv:UnspecifiedMatching OMIM:610210 MAF1 skos:exactMatch ncbigene:84232 semapv:UnspecifiedMatching @@ -55404,6 +56079,7 @@ OMIM:610211 SLIRP skos:exactMatch hgnc.symbol:SLIRP semapv:UnspecifiedMatching OMIM:610211 SLIRP skos:exactMatch ncbigene:81892 semapv:UnspecifiedMatching OMIM:610212 deafness, autosomal recessive 66 skos:exactMatch MONDO:0012442 semapv:UnspecifiedMatching OMIM:610213 aneurysm, intracranial berry, 4 skos:exactMatch MONDO:0012443 semapv:UnspecifiedMatching +OMIM:610213 aneurysm, intracranial berry, 4 skos:exactMatch hgnc.symbol:ANIB4 semapv:UnspecifiedMatching OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:16787 semapv:UnspecifiedMatching OMIM:610214 EDEM3 skos:exactMatch hgnc.symbol:EDEM3 semapv:UnspecifiedMatching OMIM:610214 EDEM3 skos:exactMatch ncbigene:80267 semapv:UnspecifiedMatching @@ -55459,6 +56135,7 @@ OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:24113 semapv:UnspecifiedMatchin OMIM:610232 ATP13A3 skos:exactMatch hgnc.symbol:ATP13A3 semapv:UnspecifiedMatching OMIM:610232 ATP13A3 skos:exactMatch ncbigene:79572 semapv:UnspecifiedMatching OMIM:610234 synpolydactyly 3 skos:exactMatch MONDO:0012447 semapv:UnspecifiedMatching +OMIM:610234 synpolydactyly 3 skos:exactMatch hgnc.symbol:SPD3 semapv:UnspecifiedMatching OMIM:610235 MTFP1 skos:exactMatch UMLS:C1853254 semapv:UnspecifiedMatching OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:26945 semapv:UnspecifiedMatching OMIM:610235 MTFP1 skos:exactMatch hgnc.symbol:MTFP1 semapv:UnspecifiedMatching @@ -55472,6 +56149,7 @@ OMIM:610237 MED30 skos:exactMatch ncbigene:90390 semapv:UnspecifiedMatching OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:23091 semapv:UnspecifiedMatching OMIM:610238 SLC5A11 skos:exactMatch hgnc.symbol:SLC5A11 semapv:UnspecifiedMatching OMIM:610238 SLC5A11 skos:exactMatch ncbigene:115584 semapv:UnspecifiedMatching +OMIM:610239 high density lipoprotein cholesterol level quantitative trait locus 4 skos:exactMatch hgnc.symbol:HDLCQ4 semapv:UnspecifiedMatching OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:29568 semapv:UnspecifiedMatching OMIM:610240 LHFPL4 skos:exactMatch hgnc.symbol:LHFPL4 semapv:UnspecifiedMatching OMIM:610240 LHFPL4 skos:exactMatch ncbigene:375323 semapv:UnspecifiedMatching @@ -55490,7 +56168,9 @@ OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch MONDO:0012450 semapv:Unsp OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch Orphanet:101109 semapv:UnspecifiedMatching OMIM:610246 spinocerebellar ataxia 28 skos:exactMatch UMLS:C1853249 semapv:UnspecifiedMatching OMIM:610247 esophagitis, eosinophilic, 1 skos:exactMatch MONDO:0012451 semapv:UnspecifiedMatching +OMIM:610247 esophagitis, eosinophilic, 1 skos:exactMatch hgnc.symbol:EOE1 semapv:UnspecifiedMatching OMIM:610248 deafness, autosomal recessive 65 skos:exactMatch MONDO:0012452 semapv:UnspecifiedMatching +OMIM:610248 deafness, autosomal recessive 65 skos:exactMatch hgnc.symbol:DFNB65 semapv:UnspecifiedMatching OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:14683 semapv:UnspecifiedMatching OMIM:610249 POFUT2 skos:exactMatch hgnc.symbol:POFUT2 semapv:UnspecifiedMatching OMIM:610249 POFUT2 skos:exactMatch ncbigene:23275 semapv:UnspecifiedMatching @@ -55517,8 +56197,11 @@ OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:33165 semapv:UnspecifiedMatch OMIM:610259 LINC00163 skos:exactMatch hgnc.symbol:LINC00163 semapv:UnspecifiedMatching OMIM:610259 LINC00163 skos:exactMatch ncbigene:727699 semapv:UnspecifiedMatching OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch MONDO:0012457 semapv:UnspecifiedMatching +OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 skos:exactMatch hgnc.symbol:IHPS2 semapv:UnspecifiedMatching OMIM:610261 hypertension, essential, susceptibility to, 5 skos:exactMatch MONDO:0012458 semapv:UnspecifiedMatching +OMIM:610261 hypertension, essential, susceptibility to, 5 skos:exactMatch hgnc.symbol:HYT5 semapv:UnspecifiedMatching OMIM:610262 hypertension, essential, susceptibility to, 6 skos:exactMatch MONDO:0012459 semapv:UnspecifiedMatching +OMIM:610262 hypertension, essential, susceptibility to, 6 skos:exactMatch hgnc.symbol:HYT6 semapv:UnspecifiedMatching OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:30718 semapv:UnspecifiedMatching OMIM:610263 DNAJB13 skos:exactMatch hgnc.symbol:DNAJB13 semapv:UnspecifiedMatching OMIM:610263 DNAJB13 skos:exactMatch ncbigene:374407 semapv:UnspecifiedMatching @@ -55607,6 +56290,8 @@ OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch M OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch Orphanet:83639 semapv:UnspecifiedMatching OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C1853205 semapv:UnspecifiedMatching OMIM:610293 glycosylphosphatidylinositol biosynthesis defect 1 skos:exactMatch UMLS:C5201145 semapv:UnspecifiedMatching +OMIM:610294 intelligence quantitative trait locus 2 skos:exactMatch hgnc.symbol:INTLQ3 semapv:UnspecifiedMatching +OMIM:610295 intelligence quantitative trait locus 3 skos:exactMatch hgnc.symbol:INTLQ2 semapv:UnspecifiedMatching OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:22208 semapv:UnspecifiedMatching OMIM:610296 NUDCD3 skos:exactMatch hgnc.symbol:NUDCD3 semapv:UnspecifiedMatching OMIM:610296 NUDCD3 skos:exactMatch ncbigene:23386 semapv:UnspecifiedMatching @@ -55677,7 +56362,9 @@ OMIM:610318 cobl-like protein 1: cobll1 skos:exactMatch ncbigene:22837 semapv:U OMIM:610319 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa skos:exactMatch MONDO:0012468 semapv:UnspecifiedMatching OMIM:610320 myopia 14 skos:exactMatch MONDO:0012469 semapv:UnspecifiedMatching OMIM:610320 myopia 14 skos:exactMatch UMLS:C1853196 semapv:UnspecifiedMatching +OMIM:610320 myopia 14 skos:exactMatch hgnc.symbol:MYP14 semapv:UnspecifiedMatching OMIM:610321 prostate cancer, hereditary, 7 skos:exactMatch MONDO:0012470 semapv:UnspecifiedMatching +OMIM:610321 prostate cancer, hereditary, 7 skos:exactMatch hgnc.symbol:HPC7 semapv:UnspecifiedMatching OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:18273 semapv:UnspecifiedMatching OMIM:610322 TRERF1 skos:exactMatch hgnc.symbol:TRERF1 semapv:UnspecifiedMatching OMIM:610322 TRERF1 skos:exactMatch ncbigene:55809 semapv:UnspecifiedMatching @@ -55785,6 +56472,7 @@ OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:23282 semapv:UnspecifiedMatching OMIM:610360 MUC20 skos:exactMatch hgnc.symbol:MUC20 semapv:UnspecifiedMatching OMIM:610360 MUC20 skos:exactMatch ncbigene:200958 semapv:UnspecifiedMatching OMIM:610361 orofacial cleft 9 skos:exactMatch MONDO:0012478 semapv:UnspecifiedMatching +OMIM:610361 orofacial cleft 9 skos:exactMatch hgnc.symbol:OFC9 semapv:UnspecifiedMatching OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:18286 semapv:UnspecifiedMatching OMIM:610362 RAX2 skos:exactMatch hgnc.symbol:RAX2 semapv:UnspecifiedMatching OMIM:610362 RAX2 skos:exactMatch ncbigene:84839 semapv:UnspecifiedMatching @@ -55950,10 +56638,12 @@ OMIM:610418 WDFY2 skos:exactMatch hgnc.symbol:WDFY2 semapv:UnspecifiedMatching OMIM:610418 WDFY2 skos:exactMatch ncbigene:115825 semapv:UnspecifiedMatching OMIM:610419 deafness, autosomal recessive 68 skos:exactMatch MONDO:0012485 semapv:UnspecifiedMatching OMIM:610420 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch MONDO:0012486 semapv:UnspecifiedMatching +OMIM:610420 preauricular tag, isolated, autosomal dominant, 1 skos:exactMatch hgnc.symbol:PAURT1 semapv:UnspecifiedMatching OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:18117 semapv:UnspecifiedMatching OMIM:610421 KHDRBS3 skos:exactMatch hgnc.symbol:KHDRBS3 semapv:UnspecifiedMatching OMIM:610421 KHDRBS3 skos:exactMatch ncbigene:10656 semapv:UnspecifiedMatching OMIM:610422 alopecia-intellectual disability syndrome 2 skos:exactMatch MONDO:0012487 semapv:UnspecifiedMatching +OMIM:610422 alopecia-intellectual disability syndrome 2 skos:exactMatch hgnc.symbol:APMR2 semapv:UnspecifiedMatching OMIM:610423 PACS2 skos:exactMatch UMLS:C1538564 semapv:UnspecifiedMatching OMIM:610423 PACS2 skos:exactMatch UMLS:C4748070 semapv:UnspecifiedMatching OMIM:610423 PACS2 skos:exactMatch hgnc.symbol:23794 semapv:UnspecifiedMatching @@ -55971,6 +56661,7 @@ OMIM:610429 COX19 skos:exactMatch hgnc.symbol:28074 semapv:UnspecifiedMatching OMIM:610429 COX19 skos:exactMatch hgnc.symbol:COX19 semapv:UnspecifiedMatching OMIM:610429 COX19 skos:exactMatch ncbigene:90639 semapv:UnspecifiedMatching OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 skos:exactMatch MONDO:0012491 semapv:UnspecifiedMatching +OMIM:610430 macroglobulinemia, waldenstrom, susceptibility to, 2 skos:exactMatch hgnc.symbol:WM2 semapv:UnspecifiedMatching OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:24544 semapv:UnspecifiedMatching OMIM:610431 RNF167 skos:exactMatch hgnc.symbol:RNF167 semapv:UnspecifiedMatching OMIM:610431 RNF167 skos:exactMatch ncbigene:26001 semapv:UnspecifiedMatching @@ -55994,7 +56685,9 @@ OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:13934 semapv:UnspecifiedMatching OMIM:610437 LY6G6E skos:exactMatch hgnc.symbol:LY6G6E semapv:UnspecifiedMatching OMIM:610437 LY6G6E skos:exactMatch ncbigene:79136 semapv:UnspecifiedMatching OMIM:610438 restless legs syndrome, susceptibility to, 3 skos:exactMatch MONDO:0012492 semapv:UnspecifiedMatching +OMIM:610438 restless legs syndrome, susceptibility to, 3 skos:exactMatch hgnc.symbol:RLS3 semapv:UnspecifiedMatching OMIM:610439 restless legs syndrome, susceptibility to, 4 skos:exactMatch MONDO:0012493 semapv:UnspecifiedMatching +OMIM:610439 restless legs syndrome, susceptibility to, 4 skos:exactMatch hgnc.symbol:RLS4 semapv:UnspecifiedMatching OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:25228 semapv:UnspecifiedMatching OMIM:610440 SGSM3 skos:exactMatch hgnc.symbol:SGSM3 semapv:UnspecifiedMatching OMIM:610440 SGSM3 skos:exactMatch ncbigene:27352 semapv:UnspecifiedMatching @@ -56251,6 +56944,7 @@ OMIM:610534 DCPS skos:exactMatch hgnc.symbol:29812 semapv:UnspecifiedMatching OMIM:610534 DCPS skos:exactMatch hgnc.symbol:DCPS semapv:UnspecifiedMatching OMIM:610534 DCPS skos:exactMatch ncbigene:28960 semapv:UnspecifiedMatching OMIM:610535 glaucoma 1, open angle, m skos:exactMatch MONDO:0012515 semapv:UnspecifiedMatching +OMIM:610535 glaucoma 1, open angle, m skos:exactMatch hgnc.symbol:GLC1M semapv:UnspecifiedMatching OMIM:610536 mandibulofacial dysostosis, guion-almeida type skos:exactMatch MONDO:0012516 semapv:UnspecifiedMatching OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:14892 semapv:UnspecifiedMatching OMIM:610537 DPP7 skos:exactMatch hgnc.symbol:DPP7 semapv:UnspecifiedMatching @@ -56584,6 +57278,7 @@ OMIM:610648 CUX2 skos:exactMatch UMLS:C4748341 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:19347 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch hgnc.symbol:CUX2 semapv:UnspecifiedMatching OMIM:610648 CUX2 skos:exactMatch ncbigene:23316 semapv:UnspecifiedMatching +OMIM:610649 bone size quantitative trait locus 3 skos:exactMatch hgnc.symbol:BSZQTL3 semapv:UnspecifiedMatching OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:15759 semapv:UnspecifiedMatching OMIM:610650 ADRM1 skos:exactMatch hgnc.symbol:ADRM1 semapv:UnspecifiedMatching OMIM:610650 ADRM1 skos:exactMatch ncbigene:11047 semapv:UnspecifiedMatching @@ -56598,6 +57293,7 @@ OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:23818 semapv:UnspecifiedMatching OMIM:610654 RRP1B skos:exactMatch hgnc.symbol:RRP1B semapv:UnspecifiedMatching OMIM:610654 RRP1B skos:exactMatch ncbigene:23076 semapv:UnspecifiedMatching OMIM:610655 telangiectasia, hereditary hemorrhagic, type 4 skos:exactMatch MONDO:0012532 semapv:UnspecifiedMatching +OMIM:610655 telangiectasia, hereditary hemorrhagic, type 4 skos:exactMatch hgnc.symbol:HHT4 semapv:UnspecifiedMatching OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:33238 semapv:UnspecifiedMatching OMIM:610656 CCBL2 skos:exactMatch hgnc.symbol:KYAT3 semapv:UnspecifiedMatching OMIM:610656 CCBL2 skos:exactMatch ncbigene:56267 semapv:UnspecifiedMatching @@ -56666,6 +57362,7 @@ OMIM:610675 USE1 skos:exactMatch hgnc.symbol:30882 semapv:UnspecifiedMatching OMIM:610675 USE1 skos:exactMatch hgnc.symbol:USE1 semapv:UnspecifiedMatching OMIM:610675 USE1 skos:exactMatch ncbigene:55850 semapv:UnspecifiedMatching OMIM:610676 autism, susceptibility to, 7 skos:exactMatch MONDO:0012533 semapv:UnspecifiedMatching +OMIM:610676 autism, susceptibility to, 7 skos:exactMatch hgnc.symbol:AUTS7 semapv:UnspecifiedMatching OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:24489 semapv:UnspecifiedMatching OMIM:610677 LSM14A skos:exactMatch hgnc.symbol:LSM14A semapv:UnspecifiedMatching OMIM:610677 LSM14A skos:exactMatch ncbigene:26065 semapv:UnspecifiedMatching @@ -56685,6 +57382,7 @@ OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:19085 semapv:UnspecifiedMatchin OMIM:610684 CTDNEP1 skos:exactMatch hgnc.symbol:CTDNEP1 semapv:UnspecifiedMatching OMIM:610684 CTDNEP1 skos:exactMatch ncbigene:23399 semapv:UnspecifiedMatching OMIM:610685 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch MONDO:0012537 semapv:UnspecifiedMatching +OMIM:610685 split-hand/foot malformation with long bone deficiency 2 skos:exactMatch hgnc.symbol:SHFLD2 semapv:UnspecifiedMatching OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:27035 semapv:UnspecifiedMatching OMIM:610686 UBXN2B skos:exactMatch hgnc.symbol:UBXN2B semapv:UnspecifiedMatching OMIM:610686 UBXN2B skos:exactMatch ncbigene:137886 semapv:UnspecifiedMatching @@ -56745,6 +57443,7 @@ OMIM:610705 CD300LB skos:exactMatch hgnc.symbol:CD300LB semapv:UnspecifiedMatch OMIM:610705 CD300LB skos:exactMatch ncbigene:124599 semapv:UnspecifiedMatching OMIM:610706 deafness, congenital, with inner ear agenesis, microtia, and microdontia skos:exactMatch MONDO:0012541 semapv:UnspecifiedMatching OMIM:610707 psoriasis 8, susceptibility to skos:exactMatch MONDO:0012542 semapv:UnspecifiedMatching +OMIM:610707 psoriasis 8, susceptibility to skos:exactMatch hgnc.symbol:PSORS8 semapv:UnspecifiedMatching OMIM:610708 optic atrophy 5 skos:exactMatch MONDO:0012543 semapv:UnspecifiedMatching OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:14968 semapv:UnspecifiedMatching OMIM:610709 TSSK1 skos:exactMatch hgnc.symbol:TSSK1B semapv:UnspecifiedMatching @@ -56870,6 +57569,7 @@ OMIM:610752 UST skos:exactMatch hgnc.symbol:17223 semapv:UnspecifiedMatching OMIM:610752 UST skos:exactMatch hgnc.symbol:UST semapv:UnspecifiedMatching OMIM:610752 UST skos:exactMatch ncbigene:10090 semapv:UnspecifiedMatching OMIM:610753 alopecia areata 2 skos:exactMatch MONDO:0012551 semapv:UnspecifiedMatching +OMIM:610753 alopecia areata 2 skos:exactMatch hgnc.symbol:AA2 semapv:UnspecifiedMatching OMIM:610754 WAPL skos:exactMatch UMLS:C1823656 semapv:UnspecifiedMatching OMIM:610754 WAPL skos:exactMatch hgnc.symbol:23293 semapv:UnspecifiedMatching OMIM:610754 WAPL skos:exactMatch hgnc.symbol:WAPL semapv:UnspecifiedMatching @@ -56883,6 +57583,8 @@ OMIM:610758 cerebrooculofacioskeletal syndrome 4 skos:exactMatch MONDO:0012554 OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch MONDO:0012555 semapv:UnspecifiedMatching OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch Orphanet:199 semapv:UnspecifiedMatching OMIM:610759 cornelia lange lange syndrome 3 with or without midline brain defects skos:exactMatch UMLS:C1853099 semapv:UnspecifiedMatching +OMIM:610760 cholesterol level quantitative trait locus 2 skos:exactMatch hgnc.symbol:CLQTL2 semapv:UnspecifiedMatching +OMIM:610761 high density lipoprotein cholesterol level quantitative trait locus 5 skos:exactMatch hgnc.symbol:HDLCQ5 semapv:UnspecifiedMatching OMIM:610762 high density lipoprotein cholesterol level quantitative trait locus 6 skos:exactMatch UMLS:C1853096 semapv:UnspecifiedMatching OMIM:610763 NANP skos:exactMatch hgnc.symbol:16140 semapv:UnspecifiedMatching OMIM:610763 NANP skos:exactMatch hgnc.symbol:NANP semapv:UnspecifiedMatching @@ -57094,11 +57796,14 @@ OMIM:610835 NARG2 skos:exactMatch hgnc.symbol:29885 semapv:UnspecifiedMatching OMIM:610835 NARG2 skos:exactMatch hgnc.symbol:ICE2 semapv:UnspecifiedMatching OMIM:610835 NARG2 skos:exactMatch ncbigene:79664 semapv:UnspecifiedMatching OMIM:610836 autism, susceptibility to, 11 skos:exactMatch MONDO:0012566 semapv:UnspecifiedMatching +OMIM:610836 autism, susceptibility to, 11 skos:exactMatch hgnc.symbol:AUTS11 semapv:UnspecifiedMatching OMIM:610837 BCL2L12 skos:exactMatch hgnc.symbol:13787 semapv:UnspecifiedMatching OMIM:610837 BCL2L12 skos:exactMatch hgnc.symbol:BCL2L12 semapv:UnspecifiedMatching OMIM:610837 BCL2L12 skos:exactMatch ncbigene:83596 semapv:UnspecifiedMatching OMIM:610838 autism, susceptibility to, 12 skos:exactMatch MONDO:0012567 semapv:UnspecifiedMatching +OMIM:610838 autism, susceptibility to, 12 skos:exactMatch hgnc.symbol:AUTS12 semapv:UnspecifiedMatching OMIM:610839 osteoarthritis susceptibility 4 skos:exactMatch MONDO:0012568 semapv:UnspecifiedMatching +OMIM:610839 osteoarthritis susceptibility 4 skos:exactMatch hgnc.symbol:OS4 semapv:UnspecifiedMatching OMIM:610840 mitral valve prolapse 3 skos:exactMatch MONDO:0012569 semapv:UnspecifiedMatching OMIM:610840 mitral valve prolapse 3 skos:exactMatch Orphanet:741 semapv:UnspecifiedMatching OMIM:610840 mitral valve prolapse 3 skos:exactMatch UMLS:C1835814 semapv:UnspecifiedMatching @@ -57202,6 +57907,7 @@ OMIM:610871 sakoda complex skos:exactMatch MONDO:0012572 semapv:UnspecifiedMatc OMIM:610872 IBRDC3 skos:exactMatch hgnc.symbol:26886 semapv:UnspecifiedMatching OMIM:610872 IBRDC3 skos:exactMatch hgnc.symbol:RNF19B semapv:UnspecifiedMatching OMIM:610872 IBRDC3 skos:exactMatch ncbigene:127544 semapv:UnspecifiedMatching +OMIM:610873 menarche, age at, quantitative trait locus 1 skos:exactMatch hgnc.symbol:MENAQ1 semapv:UnspecifiedMatching OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:30510 semapv:UnspecifiedMatching OMIM:610874 SPATC1 skos:exactMatch hgnc.symbol:SPATC1 semapv:UnspecifiedMatching OMIM:610874 SPATC1 skos:exactMatch ncbigene:375686 semapv:UnspecifiedMatching @@ -57276,6 +57982,7 @@ OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:16171 semapv:UnspecifiedMatching OMIM:610897 CHMP4B skos:exactMatch hgnc.symbol:CHMP4B semapv:UnspecifiedMatching OMIM:610897 CHMP4B skos:exactMatch ncbigene:128866 semapv:UnspecifiedMatching OMIM:610898 supranuclear palsy, progressive, 3 skos:exactMatch MONDO:0012576 semapv:UnspecifiedMatching +OMIM:610898 supranuclear palsy, progressive, 3 skos:exactMatch hgnc.symbol:PSNP3 semapv:UnspecifiedMatching OMIM:610899 CHMP4C skos:exactMatch UMLS:C1538459 semapv:UnspecifiedMatching OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:30599 semapv:UnspecifiedMatching OMIM:610899 CHMP4C skos:exactMatch hgnc.symbol:CHMP4C semapv:UnspecifiedMatching @@ -57298,10 +58005,12 @@ OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:17028 semapv:UnspecifiedMatching OMIM:610904 SNF8 skos:exactMatch hgnc.symbol:SNF8 semapv:UnspecifiedMatching OMIM:610904 SNF8 skos:exactMatch ncbigene:11267 semapv:UnspecifiedMatching OMIM:610906 asthma-related traits, susceptibility to, 4 skos:exactMatch MONDO:0012577 semapv:UnspecifiedMatching +OMIM:610906 asthma-related traits, susceptibility to, 4 skos:exactMatch hgnc.symbol:ASRT4 semapv:UnspecifiedMatching OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:28122 semapv:UnspecifiedMatching OMIM:610907 VPS25 skos:exactMatch hgnc.symbol:VPS25 semapv:UnspecifiedMatching OMIM:610907 VPS25 skos:exactMatch ncbigene:84313 semapv:UnspecifiedMatching OMIM:610908 autism, susceptibility to, 13 skos:exactMatch MONDO:0012578 semapv:UnspecifiedMatching +OMIM:610908 autism, susceptibility to, 13 skos:exactMatch hgnc.symbol:AUTS13 semapv:UnspecifiedMatching OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:25782 semapv:UnspecifiedMatching OMIM:610909 MCMBP skos:exactMatch hgnc.symbol:MCMBP semapv:UnspecifiedMatching OMIM:610909 MCMBP skos:exactMatch ncbigene:79892 semapv:UnspecifiedMatching @@ -57348,6 +58057,7 @@ OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:18358 semapv:UnspecifiedMatching OMIM:610925 IL17RC skos:exactMatch hgnc.symbol:IL17RC semapv:UnspecifiedMatching OMIM:610925 IL17RC skos:exactMatch ncbigene:84818 semapv:UnspecifiedMatching OMIM:610926 tooth agenesis, selective, 5 skos:exactMatch MONDO:0012583 semapv:UnspecifiedMatching +OMIM:610926 tooth agenesis, selective, 5 skos:exactMatch hgnc.symbol:STHAG5 semapv:UnspecifiedMatching OMIM:610927 systemic lupus erythematosus, susceptibility to, 9 skos:exactMatch MONDO:0012584 semapv:UnspecifiedMatching OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:18122 semapv:UnspecifiedMatching OMIM:610928 SOX17 skos:exactMatch hgnc.symbol:SOX17 semapv:UnspecifiedMatching @@ -57419,6 +58129,7 @@ OMIM:610946 MIR133B skos:exactMatch hgnc.symbol:MIR133B semapv:UnspecifiedMatch OMIM:610946 MIR133B skos:exactMatch ncbigene:442890 semapv:UnspecifiedMatching OMIM:610947 coronary artery disease, autosomal dominant 2 skos:exactMatch MONDO:0012586 semapv:UnspecifiedMatching OMIM:610948 hypertension, essential, susceptibility to, 7 skos:exactMatch MONDO:0012587 semapv:UnspecifiedMatching +OMIM:610948 hypertension, essential, susceptibility to, 7 skos:exactMatch hgnc.symbol:HYT7 semapv:UnspecifiedMatching OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:23143 semapv:UnspecifiedMatching OMIM:610949 SYT14 skos:exactMatch hgnc.symbol:SYT14 semapv:UnspecifiedMatching OMIM:610949 SYT14 skos:exactMatch ncbigene:255928 semapv:UnspecifiedMatching @@ -57582,6 +58293,8 @@ OMIM:611001 MEAF6 skos:exactMatch ncbigene:64769 semapv:UnspecifiedMatching OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:14158 semapv:UnspecifiedMatching OMIM:611002 TMEM204 skos:exactMatch hgnc.symbol:TMEM204 semapv:UnspecifiedMatching OMIM:611002 TMEM204 skos:exactMatch ncbigene:79652 semapv:UnspecifiedMatching +OMIM:611003 smoking as a quantitative trait locus 1 skos:exactMatch hgnc.symbol:SQTL1 semapv:UnspecifiedMatching +OMIM:611004 smoking as a quantitative trait locus 2 skos:exactMatch hgnc.symbol:SQTL2 semapv:UnspecifiedMatching OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:28040 semapv:UnspecifiedMatching OMIM:611005 MEX3C skos:exactMatch hgnc.symbol:MEX3C semapv:UnspecifiedMatching OMIM:611005 MEX3C skos:exactMatch ncbigene:51320 semapv:UnspecifiedMatching @@ -57601,6 +58314,7 @@ OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:16734 semapv:UnspecifiedMatching OMIM:611009 MEX3D skos:exactMatch hgnc.symbol:MEX3D semapv:UnspecifiedMatching OMIM:611009 MEX3D skos:exactMatch ncbigene:399664 semapv:UnspecifiedMatching OMIM:611010 fibromatosis, gingival, 4 skos:exactMatch MONDO:0012598 semapv:UnspecifiedMatching +OMIM:611010 fibromatosis, gingival, 4 skos:exactMatch hgnc.symbol:GINGF4 semapv:UnspecifiedMatching OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:17039 semapv:UnspecifiedMatching OMIM:611011 TMEM259 skos:exactMatch hgnc.symbol:TMEM259 semapv:UnspecifiedMatching OMIM:611011 TMEM259 skos:exactMatch ncbigene:91304 semapv:UnspecifiedMatching @@ -57608,6 +58322,7 @@ OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:18636 semapv:UnspecifiedMatching OMIM:611012 RGSL1 skos:exactMatch hgnc.symbol:RGSL1 semapv:UnspecifiedMatching OMIM:611012 RGSL1 skos:exactMatch ncbigene:353299 semapv:UnspecifiedMatching OMIM:611014 hypertension, essential, susceptibility to, 8 skos:exactMatch MONDO:0012599 semapv:UnspecifiedMatching +OMIM:611014 hypertension, essential, susceptibility to, 8 skos:exactMatch hgnc.symbol:HYT8 semapv:UnspecifiedMatching OMIM:611015 autism, susceptibility to, 9 skos:exactMatch MONDO:0012600 semapv:UnspecifiedMatching OMIM:611016 autism, susceptibility to, 10 skos:exactMatch MONDO:0012601 semapv:UnspecifiedMatching OMIM:611017 TYSND1 skos:exactMatch hgnc.symbol:28531 semapv:UnspecifiedMatching @@ -57656,6 +58371,7 @@ OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:30443 semapv:UnspecifiedMatchin OMIM:611030 TMEM30C skos:exactMatch hgnc.symbol:TMEM30CP semapv:UnspecifiedMatching OMIM:611030 TMEM30C skos:exactMatch ncbigene:644444 semapv:UnspecifiedMatching OMIM:611031 episodic kinesigenic dyskinesia 2 skos:exactMatch MONDO:0012603 semapv:UnspecifiedMatching +OMIM:611031 episodic kinesigenic dyskinesia 2 skos:exactMatch hgnc.symbol:EKD2 semapv:UnspecifiedMatching OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:25184 semapv:UnspecifiedMatching OMIM:611032 SPATA17 skos:exactMatch hgnc.symbol:SPATA17 semapv:UnspecifiedMatching OMIM:611032 SPATA17 skos:exactMatch ncbigene:128153 semapv:UnspecifiedMatching @@ -57701,6 +58417,7 @@ OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:24861 semapv:UnspecifiedMatching OMIM:611045 G6PC3 skos:exactMatch hgnc.symbol:G6PC3 semapv:UnspecifiedMatching OMIM:611045 G6PC3 skos:exactMatch ncbigene:92579 semapv:UnspecifiedMatching OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch MONDO:0012606 semapv:UnspecifiedMatching +OMIM:611046 mycobacterium tuberculosis, susceptibility to, 2 skos:exactMatch hgnc.symbol:MTBS2 semapv:UnspecifiedMatching OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:16798 semapv:UnspecifiedMatching OMIM:611047 RAET1L skos:exactMatch hgnc.symbol:RAET1L semapv:UnspecifiedMatching OMIM:611047 RAET1L skos:exactMatch ncbigene:154064 semapv:UnspecifiedMatching @@ -57782,6 +58499,7 @@ OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:26979 semapv:UnspecifiedMatchin OMIM:611072 DNAJC24 skos:exactMatch hgnc.symbol:DNAJC24 semapv:UnspecifiedMatching OMIM:611072 DNAJC24 skos:exactMatch ncbigene:120526 semapv:UnspecifiedMatching OMIM:611073 alzheimer disease 12 skos:exactMatch MONDO:0012609 semapv:UnspecifiedMatching +OMIM:611073 alzheimer disease 12 skos:exactMatch hgnc.symbol:AD12 semapv:UnspecifiedMatching OMIM:611074 BSX skos:exactMatch UMLS:C1970208 semapv:UnspecifiedMatching OMIM:611074 BSX skos:exactMatch hgnc.symbol:20450 semapv:UnspecifiedMatching OMIM:611074 BSX skos:exactMatch hgnc.symbol:BSX semapv:UnspecifiedMatching @@ -57834,8 +58552,11 @@ OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exac OMIM:611092 intellectual developmental disorder, autosomal recessive 6 skos:exactMatch UMLS:C1970198 semapv:UnspecifiedMatching OMIM:611093 intellectual developmental disorder, autosomal recessive 7 skos:exactMatch MONDO:0012615 semapv:UnspecifiedMatching OMIM:611095 intellectual developmental disorder, autosomal recessive 9 skos:exactMatch MONDO:0012617 semapv:UnspecifiedMatching +OMIM:611095 intellectual developmental disorder, autosomal recessive 9 skos:exactMatch hgnc.symbol:MRT9 semapv:UnspecifiedMatching OMIM:611096 intellectual developmental disorder, autosomal recessive 10 skos:exactMatch MONDO:0012618 semapv:UnspecifiedMatching +OMIM:611096 intellectual developmental disorder, autosomal recessive 10 skos:exactMatch hgnc.symbol:MRT10 semapv:UnspecifiedMatching OMIM:611097 intellectual developmental disorder, autosomal recessive 11 skos:exactMatch MONDO:0012619 semapv:UnspecifiedMatching +OMIM:611097 intellectual developmental disorder, autosomal recessive 11 skos:exactMatch hgnc.symbol:MRT11 semapv:UnspecifiedMatching OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:21923 semapv:UnspecifiedMatching OMIM:611098 STEAP4 skos:exactMatch hgnc.symbol:STEAP4 semapv:UnspecifiedMatching OMIM:611098 STEAP4 skos:exactMatch ncbigene:79689 semapv:UnspecifiedMatching @@ -57843,6 +58564,7 @@ OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:30168 semapv:UnspecifiedMatching OMIM:611099 PDIA6 skos:exactMatch hgnc.symbol:PDIA6 semapv:UnspecifiedMatching OMIM:611099 PDIA6 skos:exactMatch ncbigene:10130 semapv:UnspecifiedMatching OMIM:611100 prostate cancer, hereditary, 10 skos:exactMatch MONDO:0012620 semapv:UnspecifiedMatching +OMIM:611100 prostate cancer, hereditary, 10 skos:exactMatch hgnc.symbol:HPC10 semapv:UnspecifiedMatching OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:29105 semapv:UnspecifiedMatching OMIM:611101 PLEKHG5 skos:exactMatch hgnc.symbol:PLEKHG5 semapv:UnspecifiedMatching OMIM:611101 PLEKHG5 skos:exactMatch ncbigene:57449 semapv:UnspecifiedMatching @@ -57860,9 +58582,11 @@ OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:21175 semapv:UnspecifiedMatchin OMIM:611106 ZC3H12D skos:exactMatch hgnc.symbol:ZC3H12D semapv:UnspecifiedMatching OMIM:611106 ZC3H12D skos:exactMatch ncbigene:340152 semapv:UnspecifiedMatching OMIM:611107 intellectual developmental disorder, autosomal recessive 4 skos:exactMatch MONDO:0012623 semapv:UnspecifiedMatching +OMIM:611107 intellectual developmental disorder, autosomal recessive 4 skos:exactMatch hgnc.symbol:MRT4 semapv:UnspecifiedMatching OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:30200 semapv:UnspecifiedMatching OMIM:611108 VWC2 skos:exactMatch hgnc.symbol:VWC2 semapv:UnspecifiedMatching OMIM:611108 VWC2 skos:exactMatch ncbigene:375567 semapv:UnspecifiedMatching +OMIM:611109 cinnamon odor, pleasantness of skos:exactMatch hgnc.symbol:CINN semapv:UnspecifiedMatching OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:16457 semapv:UnspecifiedMatching OMIM:611110 MAP3K7CL skos:exactMatch hgnc.symbol:MAP3K7CL semapv:UnspecifiedMatching OMIM:611110 MAP3K7CL skos:exactMatch ncbigene:56911 semapv:UnspecifiedMatching @@ -57950,6 +58674,7 @@ OMIM:611138 STRBP skos:exactMatch hgnc.symbol:16462 semapv:UnspecifiedMatching OMIM:611138 STRBP skos:exactMatch hgnc.symbol:STRBP semapv:UnspecifiedMatching OMIM:611138 STRBP skos:exactMatch ncbigene:55342 semapv:UnspecifiedMatching OMIM:611139 coronary heart disease, susceptibility to, 8 skos:exactMatch MONDO:0012628 semapv:UnspecifiedMatching +OMIM:611139 coronary heart disease, susceptibility to, 8 skos:exactMatch hgnc.symbol:CHDS8 semapv:UnspecifiedMatching OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:29099 semapv:UnspecifiedMatching OMIM:611140 TELO2 skos:exactMatch hgnc.symbol:TELO2 semapv:UnspecifiedMatching OMIM:611140 TELO2 skos:exactMatch ncbigene:9894 semapv:UnspecifiedMatching @@ -57979,6 +58704,7 @@ OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:25355 semapv:UnspecifiedMatchi OMIM:611146 SLC30A10 skos:exactMatch hgnc.symbol:SLC30A10 semapv:UnspecifiedMatching OMIM:611146 SLC30A10 skos:exactMatch ncbigene:55532 semapv:UnspecifiedMatching OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch MONDO:0012629 semapv:UnspecifiedMatching +OMIM:611147 paroxysmal nonkinesigenic dyskinesia 2 skos:exactMatch hgnc.symbol:PNKD2 semapv:UnspecifiedMatching OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:19305 semapv:UnspecifiedMatching OMIM:611148 SLC30A6 skos:exactMatch hgnc.symbol:SLC30A6 semapv:UnspecifiedMatching OMIM:611148 SLC30A6 skos:exactMatch ncbigene:55676 semapv:UnspecifiedMatching @@ -57992,10 +58718,12 @@ OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:24974 semapv:UnspecifiedMatching OMIM:611151 TRMT2A skos:exactMatch hgnc.symbol:TRMT2A semapv:UnspecifiedMatching OMIM:611151 TRMT2A skos:exactMatch ncbigene:27037 semapv:UnspecifiedMatching OMIM:611152 alzheimer disease 13 skos:exactMatch MONDO:0012630 semapv:UnspecifiedMatching +OMIM:611152 alzheimer disease 13 skos:exactMatch hgnc.symbol:AD13 semapv:UnspecifiedMatching OMIM:611153 XPA skos:exactMatch hgnc.symbol:12814 semapv:UnspecifiedMatching OMIM:611153 XPA skos:exactMatch hgnc.symbol:XPA semapv:UnspecifiedMatching OMIM:611153 XPA skos:exactMatch ncbigene:7507 semapv:UnspecifiedMatching OMIM:611154 alzheimer disease 14 skos:exactMatch MONDO:0012631 semapv:UnspecifiedMatching +OMIM:611154 alzheimer disease 14 skos:exactMatch hgnc.symbol:AD14 semapv:UnspecifiedMatching OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:23703 semapv:UnspecifiedMatching OMIM:611156 ERMP1 skos:exactMatch hgnc.symbol:ERMP1 semapv:UnspecifiedMatching OMIM:611156 ERMP1 skos:exactMatch ncbigene:79956 semapv:UnspecifiedMatching @@ -58098,6 +58826,7 @@ OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:28993 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch hgnc.symbol:PIEZO1 semapv:UnspecifiedMatching OMIM:611184 PIEZO1 skos:exactMatch ncbigene:9780 semapv:UnspecifiedMatching OMIM:611185 restless legs syndrome, susceptibility to, 6 skos:exactMatch MONDO:0012636 semapv:UnspecifiedMatching +OMIM:611185 restless legs syndrome, susceptibility to, 6 skos:exactMatch hgnc.symbol:RLS6 semapv:UnspecifiedMatching OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:31641 semapv:UnspecifiedMatching OMIM:611186 MIR9-1 skos:exactMatch hgnc.symbol:MIR9-1 semapv:UnspecifiedMatching OMIM:611186 MIR9-1 skos:exactMatch ncbigene:407046 semapv:UnspecifiedMatching @@ -58263,6 +58992,7 @@ OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:27733 semapv:UnspecifiedMatching OMIM:611241 GPRIN3 skos:exactMatch hgnc.symbol:GPRIN3 semapv:UnspecifiedMatching OMIM:611241 GPRIN3 skos:exactMatch ncbigene:285513 semapv:UnspecifiedMatching OMIM:611242 restless legs syndrome, susceptibility to, 5 skos:exactMatch MONDO:0012641 semapv:UnspecifiedMatching +OMIM:611242 restless legs syndrome, susceptibility to, 5 skos:exactMatch hgnc.symbol:RLS5 semapv:UnspecifiedMatching OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:25598 semapv:UnspecifiedMatching OMIM:611243 TYW1 skos:exactMatch hgnc.symbol:TYW1 semapv:UnspecifiedMatching OMIM:611243 TYW1 skos:exactMatch ncbigene:55253 semapv:UnspecifiedMatching @@ -58276,6 +59006,7 @@ OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:17558 semapv:UnspecifiedMatching OMIM:611246 LCMT2 skos:exactMatch hgnc.symbol:LCMT2 semapv:UnspecifiedMatching OMIM:611246 LCMT2 skos:exactMatch ncbigene:9836 semapv:UnspecifiedMatching OMIM:611247 major affective disorder 4 skos:exactMatch MONDO:0012642 semapv:UnspecifiedMatching +OMIM:611247 major affective disorder 4 skos:exactMatch hgnc.symbol:MAFD4 semapv:UnspecifiedMatching OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:20704 semapv:UnspecifiedMatching OMIM:611248 KLHDC3 skos:exactMatch hgnc.symbol:KLHDC3 semapv:UnspecifiedMatching OMIM:611248 KLHDC3 skos:exactMatch ncbigene:116138 semapv:UnspecifiedMatching @@ -58290,6 +59021,7 @@ OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:29251 semapv:UnspecifiedMatching OMIM:611251 DISP3 skos:exactMatch hgnc.symbol:DISP3 semapv:UnspecifiedMatching OMIM:611251 DISP3 skos:exactMatch ncbigene:57540 semapv:UnspecifiedMatching OMIM:611252 spastic paraplegia 32, autosomal recessive skos:exactMatch MONDO:0012643 semapv:UnspecifiedMatching +OMIM:611252 spastic paraplegia 32, autosomal recessive skos:exactMatch hgnc.symbol:SPG32 semapv:UnspecifiedMatching OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:18632 semapv:UnspecifiedMatching OMIM:611253 KIF27 skos:exactMatch hgnc.symbol:KIF27 semapv:UnspecifiedMatching OMIM:611253 KIF27 skos:exactMatch ncbigene:55582 semapv:UnspecifiedMatching @@ -58364,6 +59096,7 @@ OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:21326 semapv:UnspecifiedMatching OMIM:611273 SKOR1 skos:exactMatch hgnc.symbol:SKOR1 semapv:UnspecifiedMatching OMIM:611273 SKOR1 skos:exactMatch ncbigene:390598 semapv:UnspecifiedMatching OMIM:611274 glaucoma 1, open angle, n skos:exactMatch MONDO:0012645 semapv:UnspecifiedMatching +OMIM:611274 glaucoma 1, open angle, n skos:exactMatch hgnc.symbol:GLC1N semapv:UnspecifiedMatching OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:16976 semapv:UnspecifiedMatching OMIM:611275 BNIPL skos:exactMatch hgnc.symbol:BNIPL semapv:UnspecifiedMatching OMIM:611275 BNIPL skos:exactMatch ncbigene:149428 semapv:UnspecifiedMatching @@ -58625,6 +59358,7 @@ OMIM:611362 UBE2Z skos:exactMatch hgnc.symbol:UBE2Z semapv:UnspecifiedMatching OMIM:611362 UBE2Z skos:exactMatch ncbigene:65264 semapv:UnspecifiedMatching OMIM:611363 atrial septal defect 4 skos:exactMatch MONDO:0012654 semapv:UnspecifiedMatching OMIM:611364 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch MONDO:0012655 semapv:UnspecifiedMatching +OMIM:611364 myoclonic epilepsy, juvenile, susceptibility to, 4 skos:exactMatch hgnc.symbol:EJM4 semapv:UnspecifiedMatching OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:33205 semapv:UnspecifiedMatching OMIM:611365 TMEM183B skos:exactMatch hgnc.symbol:TMEM183BP semapv:UnspecifiedMatching OMIM:611365 TMEM183B skos:exactMatch ncbigene:653659 semapv:UnspecifiedMatching @@ -58672,9 +59406,12 @@ OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:29150 semapv:UnspecifiedMatching OMIM:611380 DIP2C skos:exactMatch hgnc.symbol:DIP2C semapv:UnspecifiedMatching OMIM:611380 DIP2C skos:exactMatch ncbigene:22982 semapv:UnspecifiedMatching OMIM:611381 kala-azar, susceptibility to, 2 skos:exactMatch MONDO:0012660 semapv:UnspecifiedMatching +OMIM:611381 kala-azar, susceptibility to, 2 skos:exactMatch hgnc.symbol:KAZA2 semapv:UnspecifiedMatching OMIM:611382 kala-azar, susceptibility to, 3 skos:exactMatch MONDO:0012661 semapv:UnspecifiedMatching +OMIM:611382 kala-azar, susceptibility to, 3 skos:exactMatch hgnc.symbol:KAZA3 semapv:UnspecifiedMatching OMIM:611383 usher syndrome, type 2d skos:exactMatch MONDO:0012662 semapv:UnspecifiedMatching OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch MONDO:0012663 semapv:UnspecifiedMatching +OMIM:611384 plasmodium falciparum fever episodes quantitative trait locus 1 skos:exactMatch hgnc.symbol:PFFE1 semapv:UnspecifiedMatching OMIM:611386 ADNP skos:exactMatch hgnc.symbol:15766 semapv:UnspecifiedMatching OMIM:611386 ADNP skos:exactMatch hgnc.symbol:ADNP semapv:UnspecifiedMatching OMIM:611386 ADNP skos:exactMatch ncbigene:23394 semapv:UnspecifiedMatching @@ -58725,6 +59462,7 @@ OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:28301 semapv:UnspecifiedMatching OMIM:611402 DOK6 skos:exactMatch hgnc.symbol:DOK6 semapv:UnspecifiedMatching OMIM:611402 DOK6 skos:exactMatch ncbigene:220164 semapv:UnspecifiedMatching OMIM:611403 asthma-related traits, susceptibility to, 6 skos:exactMatch MONDO:0012666 semapv:UnspecifiedMatching +OMIM:611403 asthma-related traits, susceptibility to, 6 skos:exactMatch hgnc.symbol:ASRT6 semapv:UnspecifiedMatching OMIM:611404 LY6G6F skos:exactMatch UMLS:C1422281 semapv:UnspecifiedMatching OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:13933 semapv:UnspecifiedMatching OMIM:611404 LY6G6F skos:exactMatch hgnc.symbol:LY6G6F semapv:UnspecifiedMatching @@ -58873,6 +59611,7 @@ OMIM:611455 KNCN skos:exactMatch hgnc.symbol:26488 semapv:UnspecifiedMatching OMIM:611455 KNCN skos:exactMatch hgnc.symbol:KNCN semapv:UnspecifiedMatching OMIM:611455 KNCN skos:exactMatch ncbigene:148930 semapv:UnspecifiedMatching OMIM:611456 tremor, hereditary essential, 3 skos:exactMatch MONDO:0012671 semapv:UnspecifiedMatching +OMIM:611456 tremor, hereditary essential, 3 skos:exactMatch hgnc.symbol:ETM3 semapv:UnspecifiedMatching OMIM:611457 FOXO6 skos:exactMatch UMLS:C1969616 semapv:UnspecifiedMatching OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:24814 semapv:UnspecifiedMatching OMIM:611457 FOXO6 skos:exactMatch hgnc.symbol:FOXO6 semapv:UnspecifiedMatching @@ -58911,6 +59650,7 @@ OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:20608 semapv:UnspecifiedMatching OMIM:611468 BDNFAS skos:exactMatch hgnc.symbol:BDNF-AS semapv:UnspecifiedMatching OMIM:611468 BDNFAS skos:exactMatch ncbigene:497258 semapv:UnspecifiedMatching OMIM:611469 colorectal cancer, susceptibility to, 2 skos:exactMatch MONDO:0012673 semapv:UnspecifiedMatching +OMIM:611469 colorectal cancer, susceptibility to, 2 skos:exactMatch hgnc.symbol:CRCS2 semapv:UnspecifiedMatching OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:21016 semapv:UnspecifiedMatching OMIM:611470 GLULD1 skos:exactMatch hgnc.symbol:LGSN semapv:UnspecifiedMatching OMIM:611470 GLULD1 skos:exactMatch ncbigene:51557 semapv:UnspecifiedMatching @@ -58978,6 +59718,7 @@ OMIM:611492 CA2 skos:exactMatch hgnc.symbol:CA2 semapv:UnspecifiedMatching OMIM:611492 CA2 skos:exactMatch ncbigene:760 semapv:UnspecifiedMatching OMIM:611493 atrial fibrillation, familial, 4 skos:exactMatch MONDO:0012677 semapv:UnspecifiedMatching OMIM:611494 atrial fibrillation, familial, 5 skos:exactMatch MONDO:0012678 semapv:UnspecifiedMatching +OMIM:611494 atrial fibrillation, familial, 5 skos:exactMatch hgnc.symbol:ATFB5 semapv:UnspecifiedMatching OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:26820 semapv:UnspecifiedMatching OMIM:611495 CYP4F22 skos:exactMatch hgnc.symbol:CYP4F22 semapv:UnspecifiedMatching OMIM:611495 CYP4F22 skos:exactMatch ncbigene:126410 semapv:UnspecifiedMatching @@ -59036,6 +59777,7 @@ OMIM:611514 WLS skos:exactMatch hgnc.symbol:30238 semapv:UnspecifiedMatching OMIM:611514 WLS skos:exactMatch hgnc.symbol:WLS semapv:UnspecifiedMatching OMIM:611514 WLS skos:exactMatch ncbigene:79971 semapv:UnspecifiedMatching OMIM:611515 febrile seizures, familial, 7 skos:exactMatch MONDO:0012681 semapv:UnspecifiedMatching +OMIM:611515 febrile seizures, familial, 7 skos:exactMatch hgnc.symbol:FEB7 semapv:UnspecifiedMatching OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:18317 semapv:UnspecifiedMatching OMIM:611516 NICN1 skos:exactMatch hgnc.symbol:NICN1 semapv:UnspecifiedMatching OMIM:611516 NICN1 skos:exactMatch ncbigene:84276 semapv:UnspecifiedMatching @@ -59085,7 +59827,9 @@ OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:23387 semapv:UnspecifiedMatching OMIM:611534 NOL8 skos:exactMatch hgnc.symbol:NOL8 semapv:UnspecifiedMatching OMIM:611534 NOL8 skos:exactMatch ncbigene:55035 semapv:UnspecifiedMatching OMIM:611535 major affective disorder 5 skos:exactMatch MONDO:0012685 semapv:UnspecifiedMatching +OMIM:611535 major affective disorder 5 skos:exactMatch hgnc.symbol:MAFD5 semapv:UnspecifiedMatching OMIM:611536 major affective disorder 6 skos:exactMatch MONDO:0012686 semapv:UnspecifiedMatching +OMIM:611536 major affective disorder 6 skos:exactMatch hgnc.symbol:MAFD6 semapv:UnspecifiedMatching OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:15879 semapv:UnspecifiedMatching OMIM:611537 CTNNBL1 skos:exactMatch hgnc.symbol:CTNNBL1 semapv:UnspecifiedMatching OMIM:611537 CTNNBL1 skos:exactMatch ncbigene:56259 semapv:UnspecifiedMatching @@ -59180,7 +59924,9 @@ OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:3606 semapv:UnspecifiedMatching OMIM:611570 FBP1 skos:exactMatch hgnc.symbol:FBP1 semapv:UnspecifiedMatching OMIM:611570 FBP1 skos:exactMatch ncbigene:2203 semapv:UnspecifiedMatching OMIM:611571 otosclerosis 4 skos:exactMatch MONDO:0012696 semapv:UnspecifiedMatching +OMIM:611571 otosclerosis 4 skos:exactMatch hgnc.symbol:OTSC4 semapv:UnspecifiedMatching OMIM:611572 otosclerosis 7 skos:exactMatch MONDO:0012697 semapv:UnspecifiedMatching +OMIM:611572 otosclerosis 7 skos:exactMatch hgnc.symbol:OTSC7 semapv:UnspecifiedMatching OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:29799 semapv:UnspecifiedMatching OMIM:611573 SGMS1 skos:exactMatch hgnc.symbol:SGMS1 semapv:UnspecifiedMatching OMIM:611573 SGMS1 skos:exactMatch ncbigene:259230 semapv:UnspecifiedMatching @@ -59262,6 +60008,7 @@ OMIM:611597 cataract 12, multiple types skos:exactMatch MONDO:0012701 semapv:Un OMIM:611597 cataract 12, multiple types skos:exactMatch Orphanet:91492 semapv:UnspecifiedMatching OMIM:611597 cataract 12, multiple types skos:exactMatch UMLS:C3808115 semapv:UnspecifiedMatching OMIM:611598 celiac disease, susceptibility to, 6 skos:exactMatch MONDO:0012702 semapv:UnspecifiedMatching +OMIM:611598 celiac disease, susceptibility to, 6 skos:exactMatch hgnc.symbol:CELIAC6 semapv:UnspecifiedMatching OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:31584 semapv:UnspecifiedMatching OMIM:611599 MIR206 skos:exactMatch hgnc.symbol:MIR206 semapv:UnspecifiedMatching OMIM:611599 MIR206 skos:exactMatch ncbigene:406989 semapv:UnspecifiedMatching @@ -59352,7 +60099,9 @@ OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:15998 semapv:UnspecifiedMatching OMIM:611629 NAV3 skos:exactMatch hgnc.symbol:NAV3 semapv:UnspecifiedMatching OMIM:611629 NAV3 skos:exactMatch ncbigene:89795 semapv:UnspecifiedMatching OMIM:611630 epilepsy, familial temporal lobe, 3 skos:exactMatch MONDO:0012705 semapv:UnspecifiedMatching +OMIM:611630 epilepsy, familial temporal lobe, 3 skos:exactMatch hgnc.symbol:FMTLE semapv:UnspecifiedMatching OMIM:611631 epilepsy, familial temporal lobe, 4 skos:exactMatch MONDO:0012706 semapv:UnspecifiedMatching +OMIM:611631 epilepsy, familial temporal lobe, 4 skos:exactMatch hgnc.symbol:ETL4 semapv:UnspecifiedMatching OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:30791 semapv:UnspecifiedMatching OMIM:611632 UBIAD1 skos:exactMatch hgnc.symbol:UBIAD1 semapv:UnspecifiedMatching OMIM:611632 UBIAD1 skos:exactMatch ncbigene:29914 semapv:UnspecifiedMatching @@ -59360,6 +60109,7 @@ OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:28996 semapv:UnspecifiedMatching OMIM:611633 RTF1 skos:exactMatch hgnc.symbol:RTF1 semapv:UnspecifiedMatching OMIM:611633 RTF1 skos:exactMatch ncbigene:23168 semapv:UnspecifiedMatching OMIM:611634 febrile seizures, familial, 9 skos:exactMatch MONDO:0012707 semapv:UnspecifiedMatching +OMIM:611634 febrile seizures, familial, 9 skos:exactMatch hgnc.symbol:FEB9 semapv:UnspecifiedMatching OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:13802 semapv:UnspecifiedMatching OMIM:611635 NEUROD4 skos:exactMatch hgnc.symbol:NEUROD4 semapv:UnspecifiedMatching OMIM:611635 NEUROD4 skos:exactMatch ncbigene:58158 semapv:UnspecifiedMatching @@ -59367,6 +60117,7 @@ OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:14526 semapv:UnspecifiedMatchin OMIM:611636 NAALAD2 skos:exactMatch hgnc.symbol:NAALAD2 semapv:UnspecifiedMatching OMIM:611636 NAALAD2 skos:exactMatch ncbigene:10003 semapv:UnspecifiedMatching OMIM:611637 primary lateral sclerosis, adult, 1 skos:exactMatch MONDO:0012708 semapv:UnspecifiedMatching +OMIM:611637 primary lateral sclerosis, adult, 1 skos:exactMatch hgnc.symbol:PLSA1 semapv:UnspecifiedMatching OMIM:611638 microphthalmia/coloboma 5 skos:exactMatch MONDO:0012709 semapv:UnspecifiedMatching OMIM:611639 ZGLP1 skos:exactMatch UMLS:C1999257 semapv:UnspecifiedMatching OMIM:611639 ZGLP1 skos:exactMatch hgnc.symbol:37245 semapv:UnspecifiedMatching @@ -59385,6 +60136,7 @@ OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:13854 semapv:UnspecifiedMatchin OMIM:611643 ZKSCAN4 skos:exactMatch hgnc.symbol:ZKSCAN4 semapv:UnspecifiedMatching OMIM:611643 ZKSCAN4 skos:exactMatch ncbigene:387032 semapv:UnspecifiedMatching OMIM:611644 hirschsprung disease, susceptibility to, 9 skos:exactMatch MONDO:0012710 semapv:UnspecifiedMatching +OMIM:611644 hirschsprung disease, susceptibility to, 9 skos:exactMatch hgnc.symbol:HSCR9 semapv:UnspecifiedMatching OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:24593 semapv:UnspecifiedMatching OMIM:611645 CXXC4 skos:exactMatch hgnc.symbol:CXXC4 semapv:UnspecifiedMatching OMIM:611645 CXXC4 skos:exactMatch ncbigene:80319 semapv:UnspecifiedMatching @@ -59564,6 +60316,7 @@ OMIM:611704 TMPRSS11A skos:exactMatch hgnc.symbol:TMPRSS11A semapv:UnspecifiedM OMIM:611704 TMPRSS11A skos:exactMatch ncbigene:339967 semapv:UnspecifiedMatching OMIM:611705 congenital myopathy 5 with cardiomyopathy skos:exactMatch MONDO:0012714 semapv:UnspecifiedMatching OMIM:611706 migraine with or without aura, susceptibility to, 12 skos:exactMatch MONDO:0012715 semapv:UnspecifiedMatching +OMIM:611706 migraine with or without aura, susceptibility to, 12 skos:exactMatch hgnc.symbol:MGR12 semapv:UnspecifiedMatching OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:27279 semapv:UnspecifiedMatching OMIM:611707 MPZL3 skos:exactMatch hgnc.symbol:MPZL3 semapv:UnspecifiedMatching OMIM:611707 MPZL3 skos:exactMatch ncbigene:196264 semapv:UnspecifiedMatching @@ -59660,6 +60413,8 @@ OMIM:611736 greb1 protein skos:exactMatch ncbigene:9687 semapv:UnspecifiedMatch OMIM:611737 SEPTIN10 skos:exactMatch hgnc.symbol:14349 semapv:UnspecifiedMatching OMIM:611737 SEPTIN10 skos:exactMatch hgnc.symbol:SEPTIN10 semapv:UnspecifiedMatching OMIM:611737 SEPTIN10 skos:exactMatch ncbigene:151011 semapv:UnspecifiedMatching +OMIM:611738 bone mineral density quantitative trait locus 7 skos:exactMatch hgnc.symbol:BMND7 semapv:UnspecifiedMatching +OMIM:611739 bone mineral density quantitative trait locus 8 skos:exactMatch hgnc.symbol:BMND8 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch UMLS:C1425564 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:18503 semapv:UnspecifiedMatching OMIM:611740 BCO2 skos:exactMatch hgnc.symbol:BCO2 semapv:UnspecifiedMatching @@ -60005,6 +60760,7 @@ OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:25250 semapv:UnspecifiedMatching OMIM:611861 ADPGK skos:exactMatch hgnc.symbol:ADPGK semapv:UnspecifiedMatching OMIM:611861 ADPGK skos:exactMatch ncbigene:83440 semapv:UnspecifiedMatching OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma skos:exactMatch MONDO:0012739 semapv:UnspecifiedMatching +OMIM:611863 microtia with nasolacrimal duct imperforation and eye coloboma skos:exactMatch hgnc.symbol:MNDEC semapv:UnspecifiedMatching OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:21706 semapv:UnspecifiedMatching OMIM:611864 ARMC10 skos:exactMatch hgnc.symbol:ARMC10 semapv:UnspecifiedMatching OMIM:611864 ARMC10 skos:exactMatch ncbigene:83787 semapv:UnspecifiedMatching @@ -60068,7 +60824,9 @@ OMIM:611889 S100PBP skos:exactMatch hgnc.symbol:S100PBP semapv:UnspecifiedMatch OMIM:611889 S100PBP skos:exactMatch ncbigene:64766 semapv:UnspecifiedMatching OMIM:611890 congenital arthrogryposis with anterior horn cell disease skos:exactMatch MONDO:0012750 semapv:UnspecifiedMatching OMIM:611891 aortic aneurysm, familial abdominal, 3 skos:exactMatch MONDO:0012751 semapv:UnspecifiedMatching +OMIM:611891 aortic aneurysm, familial abdominal, 3 skos:exactMatch hgnc.symbol:AAA3 semapv:UnspecifiedMatching OMIM:611892 aneurysm, intracranial berry, 6 skos:exactMatch MONDO:0012752 semapv:UnspecifiedMatching +OMIM:611892 aneurysm, intracranial berry, 6 skos:exactMatch hgnc.symbol:ANIB6 semapv:UnspecifiedMatching OMIM:611893 PLEKHG2 skos:exactMatch hgnc.symbol:29515 semapv:UnspecifiedMatching OMIM:611893 PLEKHG2 skos:exactMatch hgnc.symbol:PLEKHG2 semapv:UnspecifiedMatching OMIM:611893 PLEKHG2 skos:exactMatch ncbigene:64857 semapv:UnspecifiedMatching @@ -60080,6 +60838,7 @@ OMIM:611896 RTL1 skos:exactMatch hgnc.symbol:14665 semapv:UnspecifiedMatching OMIM:611896 RTL1 skos:exactMatch hgnc.symbol:RTL1 semapv:UnspecifiedMatching OMIM:611896 RTL1 skos:exactMatch ncbigene:388015 semapv:UnspecifiedMatching OMIM:611897 nanophthalmos 3 skos:exactMatch MONDO:0012754 semapv:UnspecifiedMatching +OMIM:611897 nanophthalmos 3 skos:exactMatch hgnc.symbol:NNO3 semapv:UnspecifiedMatching OMIM:611898 ENGASE skos:exactMatch hgnc.symbol:24622 semapv:UnspecifiedMatching OMIM:611898 ENGASE skos:exactMatch hgnc.symbol:ENGASE semapv:UnspecifiedMatching OMIM:611898 ENGASE skos:exactMatch ncbigene:64772 semapv:UnspecifiedMatching @@ -60108,6 +60867,7 @@ OMIM:611906 FNDC5 skos:exactMatch hgnc.symbol:20240 semapv:UnspecifiedMatching OMIM:611906 FNDC5 skos:exactMatch hgnc.symbol:FNDC5 semapv:UnspecifiedMatching OMIM:611906 FNDC5 skos:exactMatch ncbigene:252995 semapv:UnspecifiedMatching OMIM:611907 episodic ataxia, type 7 skos:exactMatch MONDO:0012755 semapv:UnspecifiedMatching +OMIM:611907 episodic ataxia, type 7 skos:exactMatch hgnc.symbol:EA7 semapv:UnspecifiedMatching OMIM:611908 RFT1 skos:exactMatch hgnc.symbol:30220 semapv:UnspecifiedMatching OMIM:611908 RFT1 skos:exactMatch hgnc.symbol:RFT1 semapv:UnspecifiedMatching OMIM:611908 RFT1 skos:exactMatch ncbigene:91869 semapv:UnspecifiedMatching @@ -60146,6 +60906,7 @@ OMIM:611917 KDM8 skos:exactMatch ncbigene:79831 semapv:UnspecifiedMatching OMIM:611919 RIOX1 skos:exactMatch hgnc.symbol:20968 semapv:UnspecifiedMatching OMIM:611919 RIOX1 skos:exactMatch hgnc.symbol:RIOX1 semapv:UnspecifiedMatching OMIM:611919 RIOX1 skos:exactMatch ncbigene:79697 semapv:UnspecifiedMatching +OMIM:611920 c-reactive protein, serum level of, quantitative trait locus 1 skos:exactMatch hgnc.symbol:CPROTQ semapv:UnspecifiedMatching OMIM:611921 GJB7 skos:exactMatch hgnc.symbol:16690 semapv:UnspecifiedMatching OMIM:611921 GJB7 skos:exactMatch hgnc.symbol:GJB7 semapv:UnspecifiedMatching OMIM:611921 GJB7 skos:exactMatch ncbigene:375519 semapv:UnspecifiedMatching @@ -60182,6 +60943,7 @@ OMIM:611933 CISD3 skos:exactMatch hgnc.symbol:27578 semapv:UnspecifiedMatching OMIM:611933 CISD3 skos:exactMatch hgnc.symbol:CISD3 semapv:UnspecifiedMatching OMIM:611933 CISD3 skos:exactMatch ncbigene:284106 semapv:UnspecifiedMatching OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch MONDO:0012760 semapv:UnspecifiedMatching +OMIM:611934 epilepsy, idiopathic generalized, susceptibility to, 5 skos:exactMatch hgnc.symbol:EIG5 semapv:UnspecifiedMatching OMIM:611935 MMADHC skos:exactMatch hgnc.symbol:25221 semapv:UnspecifiedMatching OMIM:611935 MMADHC skos:exactMatch hgnc.symbol:MMADHC semapv:UnspecifiedMatching OMIM:611935 MMADHC skos:exactMatch ncbigene:27249 semapv:UnspecifiedMatching @@ -60202,7 +60964,9 @@ OMIM:611941 ATAD2 skos:exactMatch ncbigene:29028 semapv:UnspecifiedMatching OMIM:611942 epilepsy, childhood absence, susceptibility to, 6 skos:exactMatch MONDO:0012763 semapv:UnspecifiedMatching OMIM:611943 riddle syndrome skos:exactMatch MONDO:0012764 semapv:UnspecifiedMatching OMIM:611944 lymphatic malformation 2 skos:exactMatch MONDO:0012765 semapv:UnspecifiedMatching +OMIM:611944 lymphatic malformation 2 skos:exactMatch hgnc.symbol:LMPH1B semapv:UnspecifiedMatching OMIM:611945 spastic paraplegia 37, autosomal dominant skos:exactMatch MONDO:0012766 semapv:UnspecifiedMatching +OMIM:611945 spastic paraplegia 37, autosomal dominant skos:exactMatch hgnc.symbol:SPG37 semapv:UnspecifiedMatching OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:14928 semapv:UnspecifiedMatching OMIM:611946 UBXN6 skos:exactMatch hgnc.symbol:UBXN6 semapv:UnspecifiedMatching OMIM:611946 UBXN6 skos:exactMatch ncbigene:80700 semapv:UnspecifiedMatching @@ -60233,7 +60997,9 @@ OMIM:611957 MIRN378 skos:exactMatch hgnc.symbol:31871 semapv:UnspecifiedMatchin OMIM:611957 MIRN378 skos:exactMatch hgnc.symbol:MIR378A semapv:UnspecifiedMatching OMIM:611957 MIRN378 skos:exactMatch ncbigene:494327 semapv:UnspecifiedMatching OMIM:611958 prostate cancer, hereditary, 14 skos:exactMatch MONDO:0012769 semapv:UnspecifiedMatching +OMIM:611958 prostate cancer, hereditary, 14 skos:exactMatch hgnc.symbol:HPC14 semapv:UnspecifiedMatching OMIM:611959 prostate cancer, hereditary, 15 skos:exactMatch MONDO:0012770 semapv:UnspecifiedMatching +OMIM:611959 prostate cancer, hereditary, 15 skos:exactMatch hgnc.symbol:HPC15 semapv:UnspecifiedMatching OMIM:611960 asthma-related traits, susceptibility to, 7 skos:exactMatch MONDO:0012771 semapv:UnspecifiedMatching OMIM:611961 stevenson-carey syndrome skos:exactMatch MONDO:0012772 semapv:UnspecifiedMatching OMIM:611962 hunter-macdonald syndrome skos:exactMatch MONDO:0012773 semapv:UnspecifiedMatching @@ -60366,12 +61132,19 @@ OMIM:612003 GIGYF2 skos:exactMatch hgnc.symbol:GIGYF2 semapv:UnspecifiedMatchin OMIM:612003 GIGYF2 skos:exactMatch ncbigene:26058 semapv:UnspecifiedMatching OMIM:612004 thrombocytopenia 4 skos:exactMatch MONDO:0012775 semapv:UnspecifiedMatching OMIM:612005 celiac disease, susceptibility to, 7 skos:exactMatch MONDO:0012776 semapv:UnspecifiedMatching +OMIM:612005 celiac disease, susceptibility to, 7 skos:exactMatch hgnc.symbol:CELIAC7 semapv:UnspecifiedMatching OMIM:612006 celiac disease, susceptibility to, 8 skos:exactMatch MONDO:0012777 semapv:UnspecifiedMatching +OMIM:612006 celiac disease, susceptibility to, 8 skos:exactMatch hgnc.symbol:CELIAC8 semapv:UnspecifiedMatching OMIM:612007 celiac disease, susceptibility to, 9 skos:exactMatch MONDO:0012778 semapv:UnspecifiedMatching +OMIM:612007 celiac disease, susceptibility to, 9 skos:exactMatch hgnc.symbol:CELIAC9 semapv:UnspecifiedMatching OMIM:612008 celiac disease, susceptibility to, 10 skos:exactMatch MONDO:0012779 semapv:UnspecifiedMatching +OMIM:612008 celiac disease, susceptibility to, 10 skos:exactMatch hgnc.symbol:CELIAC10 semapv:UnspecifiedMatching OMIM:612009 celiac disease, susceptibility to, 11 skos:exactMatch MONDO:0012780 semapv:UnspecifiedMatching +OMIM:612009 celiac disease, susceptibility to, 11 skos:exactMatch hgnc.symbol:CELIAC11 semapv:UnspecifiedMatching OMIM:612010 celiac disease, susceptibility to, 12 skos:exactMatch MONDO:0012781 semapv:UnspecifiedMatching +OMIM:612010 celiac disease, susceptibility to, 12 skos:exactMatch hgnc.symbol:CELIAC12 semapv:UnspecifiedMatching OMIM:612011 celiac disease, susceptibility to, 13 skos:exactMatch MONDO:0012782 semapv:UnspecifiedMatching +OMIM:612011 celiac disease, susceptibility to, 13 skos:exactMatch hgnc.symbol:CELIAC13 semapv:UnspecifiedMatching OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:20761 semapv:UnspecifiedMatching OMIM:612012 ZFYVE26 skos:exactMatch hgnc.symbol:ZFYVE26 semapv:UnspecifiedMatching OMIM:612012 ZFYVE26 skos:exactMatch ncbigene:23503 semapv:UnspecifiedMatching @@ -60391,6 +61164,7 @@ OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch MONDO:0012784 s OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch Orphanet:139485 semapv:UnspecifiedMatching OMIM:612016 coenzyme Q10 deficiency, primary, 4 skos:exactMatch UMLS:C2677589 semapv:UnspecifiedMatching OMIM:612017 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch MONDO:0012785 semapv:UnspecifiedMatching +OMIM:612017 pyloric stenosis, infantile hypertrophic, 3 skos:exactMatch hgnc.symbol:IHPS3 semapv:UnspecifiedMatching OMIM:612018 cataract 47 skos:exactMatch MONDO:0012786 semapv:UnspecifiedMatching OMIM:612019 ISX skos:exactMatch hgnc.symbol:28084 semapv:UnspecifiedMatching OMIM:612019 ISX skos:exactMatch hgnc.symbol:ISX semapv:UnspecifiedMatching @@ -60425,6 +61199,7 @@ OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:16135 semapv:UnspecifiedMatching OMIM:612029 FITM2 skos:exactMatch hgnc.symbol:FITM2 semapv:UnspecifiedMatching OMIM:612029 FITM2 skos:exactMatch ncbigene:128486 semapv:UnspecifiedMatching OMIM:612030 coronary heart disease, susceptibility to, 9 skos:exactMatch MONDO:0012788 semapv:UnspecifiedMatching +OMIM:612030 coronary heart disease, susceptibility to, 9 skos:exactMatch hgnc.symbol:CHDS9 semapv:UnspecifiedMatching OMIM:612031 INHBE skos:exactMatch hgnc.symbol:24029 semapv:UnspecifiedMatching OMIM:612031 INHBE skos:exactMatch hgnc.symbol:INHBE semapv:UnspecifiedMatching OMIM:612031 INHBE skos:exactMatch ncbigene:83729 semapv:UnspecifiedMatching @@ -60580,6 +61355,7 @@ OMIM:612081 IL34 skos:exactMatch ncbigene:146433 semapv:UnspecifiedMatching OMIM:612082 CIC skos:exactMatch hgnc.symbol:14214 semapv:UnspecifiedMatching OMIM:612082 CIC skos:exactMatch hgnc.symbol:CIC semapv:UnspecifiedMatching OMIM:612082 CIC skos:exactMatch ncbigene:23152 semapv:UnspecifiedMatching +OMIM:612083 muscle strength quantitative trait locus 1 skos:exactMatch hgnc.symbol:MUSTQTL1 semapv:UnspecifiedMatching OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:29955 semapv:UnspecifiedMatching OMIM:612084 SLC51A skos:exactMatch hgnc.symbol:SLC51A semapv:UnspecifiedMatching OMIM:612084 SLC51A skos:exactMatch ncbigene:200931 semapv:UnspecifiedMatching @@ -60597,6 +61373,7 @@ OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:31713 semapv:UnspecifiedMatchin OMIM:612088 CLEC12A skos:exactMatch hgnc.symbol:CLEC12A semapv:UnspecifiedMatching OMIM:612088 CLEC12A skos:exactMatch ncbigene:160364 semapv:UnspecifiedMatching OMIM:612089 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch MONDO:0012795 semapv:UnspecifiedMatching +OMIM:612089 hypophosphatemic rickets and hyperparathyroidism skos:exactMatch hgnc.symbol:HPRHP semapv:UnspecifiedMatching OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:31578 semapv:UnspecifiedMatching OMIM:612090 MIR200A skos:exactMatch hgnc.symbol:MIR200A semapv:UnspecifiedMatching OMIM:612090 MIR200A skos:exactMatch ncbigene:406983 semapv:UnspecifiedMatching @@ -60614,9 +61391,11 @@ OMIM:612094 MIRN429 skos:exactMatch hgnc.symbol:MIR429 semapv:UnspecifiedMatchi OMIM:612094 MIRN429 skos:exactMatch ncbigene:554210 semapv:UnspecifiedMatching OMIM:612095 retinitis pigmentosa 41 skos:exactMatch MONDO:0012796 semapv:UnspecifiedMatching OMIM:612096 otosclerosis 8 skos:exactMatch MONDO:0012797 semapv:UnspecifiedMatching +OMIM:612096 otosclerosis 8 skos:exactMatch hgnc.symbol:OTSC8 semapv:UnspecifiedMatching OMIM:612097 deafness, unilateral, with delayed endolymphatic hydrops skos:exactMatch MONDO:0012798 semapv:UnspecifiedMatching OMIM:612098 cardiomyopathy, familial hypertrophic, 11 skos:exactMatch MONDO:0012799 semapv:UnspecifiedMatching OMIM:612099 trichoepithelioma, multiple familial, 2 skos:exactMatch MONDO:0012800 semapv:UnspecifiedMatching +OMIM:612099 trichoepithelioma, multiple familial, 2 skos:exactMatch hgnc.symbol:MFT2 semapv:UnspecifiedMatching OMIM:612100 autism, susceptibility to, 15 skos:exactMatch MONDO:0012801 semapv:UnspecifiedMatching OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:18215 semapv:UnspecifiedMatching OMIM:612101 PI4K2B skos:exactMatch hgnc.symbol:PI4K2B semapv:UnspecifiedMatching @@ -60639,13 +61418,17 @@ OMIM:612106 ZBTB40 skos:exactMatch ncbigene:9923 semapv:UnspecifiedMatching OMIM:612107 SLC17A9 skos:exactMatch hgnc.symbol:16192 semapv:UnspecifiedMatching OMIM:612107 SLC17A9 skos:exactMatch hgnc.symbol:SLC17A9 semapv:UnspecifiedMatching OMIM:612107 SLC17A9 skos:exactMatch ncbigene:63910 semapv:UnspecifiedMatching +OMIM:612108 fasting plasma glucose level quantitative trait locus 1 skos:exactMatch hgnc.symbol:FGQTL1 semapv:UnspecifiedMatching OMIM:612109 oculoauricular syndrome skos:exactMatch MONDO:0012802 semapv:UnspecifiedMatching +OMIM:612110 bone mineral density quantitative trait locus 9 skos:exactMatch hgnc.symbol:BMND9 semapv:UnspecifiedMatching OMIM:612111 TNFAIP8 skos:exactMatch hgnc.symbol:17260 semapv:UnspecifiedMatching OMIM:612111 TNFAIP8 skos:exactMatch hgnc.symbol:TNFAIP8 semapv:UnspecifiedMatching OMIM:612111 TNFAIP8 skos:exactMatch ncbigene:25816 semapv:UnspecifiedMatching OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:26277 semapv:UnspecifiedMatching OMIM:612112 TNFAIP8L2 skos:exactMatch hgnc.symbol:TNFAIP8L2 semapv:UnspecifiedMatching OMIM:612112 TNFAIP8L2 skos:exactMatch ncbigene:79626 semapv:UnspecifiedMatching +OMIM:612113 bone mineral density quantitative trait locus 10 skos:exactMatch hgnc.symbol:BMND10 semapv:UnspecifiedMatching +OMIM:612114 bone mineral density quantitative trait locus 11 skos:exactMatch hgnc.symbol:BMND11 semapv:UnspecifiedMatching OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:683 semapv:UnspecifiedMatching OMIM:612115 ARHGEF3 skos:exactMatch hgnc.symbol:ARHGEF3 semapv:UnspecifiedMatching OMIM:612115 ARHGEF3 skos:exactMatch ncbigene:50650 semapv:UnspecifiedMatching @@ -60773,7 +61556,9 @@ OMIM:612159 RPH3A skos:exactMatch hgnc.symbol:RPH3A semapv:UnspecifiedMatching OMIM:612159 RPH3A skos:exactMatch ncbigene:22895 semapv:UnspecifiedMatching OMIM:612160 histiocytoma, angiomatoid fibrous skos:exactMatch MONDO:0012809 semapv:UnspecifiedMatching OMIM:612161 aneurysm, intracranial berry, 7 skos:exactMatch MONDO:0012810 semapv:UnspecifiedMatching +OMIM:612161 aneurysm, intracranial berry, 7 skos:exactMatch hgnc.symbol:ANIB7 semapv:UnspecifiedMatching OMIM:612162 aneurysm, intracranial berry, 8 skos:exactMatch MONDO:0012811 semapv:UnspecifiedMatching +OMIM:612162 aneurysm, intracranial berry, 8 skos:exactMatch hgnc.symbol:ANIB8 semapv:UnspecifiedMatching OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:20820 semapv:UnspecifiedMatching OMIM:612163 TPCN2 skos:exactMatch hgnc.symbol:TPCN2 semapv:UnspecifiedMatching OMIM:612163 TPCN2 skos:exactMatch ncbigene:219931 semapv:UnspecifiedMatching @@ -60782,6 +61567,7 @@ OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphane OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch Orphanet:33069 semapv:UnspecifiedMatching OMIM:612164 developmental and epileptic encephalopathy 4 skos:exactMatch UMLS:C2677326 semapv:UnspecifiedMatching OMIM:612165 retinitis pigmentosa 29 skos:exactMatch MONDO:0012813 semapv:UnspecifiedMatching +OMIM:612165 retinitis pigmentosa 29 skos:exactMatch hgnc.symbol:RP29 semapv:UnspecifiedMatching OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:17127 semapv:UnspecifiedMatching OMIM:612166 SLC39A2 skos:exactMatch hgnc.symbol:SLC39A2 semapv:UnspecifiedMatching OMIM:612166 SLC39A2 skos:exactMatch ncbigene:29986 semapv:UnspecifiedMatching @@ -60953,15 +61739,23 @@ OMIM:612219 ewing sarcoma skos:exactMatch MONDO:0012817 semapv:UnspecifiedMatch OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:24137 semapv:UnspecifiedMatching OMIM:612220 B4GALNT3 skos:exactMatch hgnc.symbol:B4GALNT3 semapv:UnspecifiedMatching OMIM:612220 B4GALNT3 skos:exactMatch ncbigene:283358 semapv:UnspecifiedMatching +OMIM:612221 stature quantitative trait locus 10 skos:exactMatch hgnc.symbol:STQTL10 semapv:UnspecifiedMatching OMIM:612222 GALNS skos:exactMatch hgnc.symbol:4122 semapv:UnspecifiedMatching OMIM:612222 GALNS skos:exactMatch hgnc.symbol:GALNS semapv:UnspecifiedMatching OMIM:612222 GALNS skos:exactMatch ncbigene:2588 semapv:UnspecifiedMatching +OMIM:612223 stature quantitative trait locus 11 skos:exactMatch hgnc.symbol:STQTL11 semapv:UnspecifiedMatching +OMIM:612224 stature quantitative trait locus 12 skos:exactMatch hgnc.symbol:STQTL12 semapv:UnspecifiedMatching OMIM:612225 maturity-onset diabetes of the young, type 9 skos:exactMatch MONDO:0012818 semapv:UnspecifiedMatching +OMIM:612226 stature quantitative trait locus 13 skos:exactMatch hgnc.symbol:STQTL13 semapv:UnspecifiedMatching OMIM:612227 diabetes mellitus, ketosis-prone skos:exactMatch MONDO:0100180 semapv:UnspecifiedMatching +OMIM:612228 stature quantitative trait locus 14 skos:exactMatch hgnc.symbol:STQTL14 semapv:UnspecifiedMatching OMIM:612229 colorectal cancer, susceptibility to, 3 skos:exactMatch MONDO:0012820 semapv:UnspecifiedMatching OMIM:612230 colorectal cancer, susceptibility to, 5 skos:exactMatch MONDO:0012821 semapv:UnspecifiedMatching +OMIM:612230 colorectal cancer, susceptibility to, 5 skos:exactMatch hgnc.symbol:CRCS5 semapv:UnspecifiedMatching OMIM:612231 colorectal cancer, susceptibility to, 6 skos:exactMatch MONDO:0012822 semapv:UnspecifiedMatching +OMIM:612231 colorectal cancer, susceptibility to, 6 skos:exactMatch hgnc.symbol:CRCS6 semapv:UnspecifiedMatching OMIM:612232 colorectal cancer, susceptibility to, 7 skos:exactMatch MONDO:0012823 semapv:UnspecifiedMatching +OMIM:612232 colorectal cancer, susceptibility to, 7 skos:exactMatch hgnc.symbol:CRCS7 semapv:UnspecifiedMatching OMIM:612233 leukodystrophy, hypomyelinating, 4 skos:exactMatch MONDO:0012824 semapv:UnspecifiedMatching OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:23494 semapv:UnspecifiedMatching OMIM:612234 CALHM1 skos:exactMatch hgnc.symbol:CALHM1 semapv:UnspecifiedMatching @@ -60975,9 +61769,12 @@ OMIM:612236 ERGIC2 skos:exactMatch hgnc.symbol:ERGIC2 semapv:UnspecifiedMatchin OMIM:612236 ERGIC2 skos:exactMatch ncbigene:51290 semapv:UnspecifiedMatching OMIM:612237 chondrosarcoma, extraskeletal myxoid skos:exactMatch MONDO:0012825 semapv:UnspecifiedMatching OMIM:612238 scoliosis, isolated, susceptibility to, 4 skos:exactMatch MONDO:0012826 semapv:UnspecifiedMatching +OMIM:612238 scoliosis, isolated, susceptibility to, 4 skos:exactMatch hgnc.symbol:IS4 semapv:UnspecifiedMatching OMIM:612239 scoliosis, isolated, susceptibility to, 5 skos:exactMatch MONDO:0012827 semapv:UnspecifiedMatching +OMIM:612239 scoliosis, isolated, susceptibility to, 5 skos:exactMatch hgnc.symbol:IS5 semapv:UnspecifiedMatching OMIM:612240 atrial fibrillation, familial, 7 skos:exactMatch MONDO:0012828 semapv:UnspecifiedMatching OMIM:612241 inflammatory bowel disease 12 skos:exactMatch MONDO:0012829 semapv:UnspecifiedMatching +OMIM:612241 inflammatory bowel disease 12 skos:exactMatch hgnc.symbol:IBD12 semapv:UnspecifiedMatching OMIM:612242 chromosome 10q22.3-q23.2 deletion syndrome skos:exactMatch MONDO:0012830 semapv:UnspecifiedMatching OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:13841 semapv:UnspecifiedMatching OMIM:612243 ADGRG6 skos:exactMatch hgnc.symbol:ADGRG6 semapv:UnspecifiedMatching @@ -61003,7 +61800,9 @@ OMIM:612252 CLEC9A skos:exactMatch hgnc.symbol:CLEC9A semapv:UnspecifiedMatchin OMIM:612252 CLEC9A skos:exactMatch ncbigene:283420 semapv:UnspecifiedMatching OMIM:612253 systemic lupus erythematosus, susceptibility to, 11 skos:exactMatch MONDO:0012835 semapv:UnspecifiedMatching OMIM:612254 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch MONDO:0012836 semapv:UnspecifiedMatching +OMIM:612254 systemic lupus erythematosus, susceptibility to, 12 skos:exactMatch hgnc.symbol:SLEB12 semapv:UnspecifiedMatching OMIM:612255 inflammatory bowel disease 15 skos:exactMatch MONDO:0012837 semapv:UnspecifiedMatching +OMIM:612255 inflammatory bowel disease 15 skos:exactMatch hgnc.symbol:IBD15 semapv:UnspecifiedMatching OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:19034 semapv:UnspecifiedMatching OMIM:612256 MAST1 skos:exactMatch hgnc.symbol:MAST1 semapv:UnspecifiedMatching OMIM:612256 MAST1 skos:exactMatch ncbigene:22983 semapv:UnspecifiedMatching @@ -61014,12 +61813,15 @@ OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:19036 semapv:UnspecifiedMatching OMIM:612258 MAST3 skos:exactMatch hgnc.symbol:MAST3 semapv:UnspecifiedMatching OMIM:612258 MAST3 skos:exactMatch ncbigene:23031 semapv:UnspecifiedMatching OMIM:612259 inflammatory bowel disease 16 skos:exactMatch MONDO:0012838 semapv:UnspecifiedMatching +OMIM:612259 inflammatory bowel disease 16 skos:exactMatch hgnc.symbol:IBD16 semapv:UnspecifiedMatching OMIM:612260 immunodeficiency 68 skos:exactMatch MONDO:0012839 semapv:UnspecifiedMatching OMIM:612260 immunodeficiency 68 skos:exactMatch Orphanet:183713 semapv:UnspecifiedMatching OMIM:612260 immunodeficiency 68 skos:exactMatch UMLS:C2677092 semapv:UnspecifiedMatching OMIM:612261 inflammatory bowel disease 17 skos:exactMatch MONDO:0012840 semapv:UnspecifiedMatching OMIM:612262 inflammatory bowel disease 18 skos:exactMatch MONDO:0012841 semapv:UnspecifiedMatching +OMIM:612262 inflammatory bowel disease 18 skos:exactMatch hgnc.symbol:IBD18 semapv:UnspecifiedMatching OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch MONDO:0012842 semapv:UnspecifiedMatching +OMIM:612263 melanoma, cutaneous malignant, susceptibility to, 7 skos:exactMatch hgnc.symbol:CMM7 semapv:UnspecifiedMatching OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:16875 semapv:UnspecifiedMatching OMIM:612264 MRC2 skos:exactMatch hgnc.symbol:MRC2 semapv:UnspecifiedMatching OMIM:612264 MRC2 skos:exactMatch ncbigene:9902 semapv:UnspecifiedMatching @@ -61040,6 +61842,7 @@ OMIM:612270 CDCA4 skos:exactMatch hgnc.symbol:CDCA4 semapv:UnspecifiedMatching OMIM:612270 CDCA4 skos:exactMatch ncbigene:55038 semapv:UnspecifiedMatching OMIM:612271 skin/hair/eye pigmentation, variation in, 11 skos:exactMatch MONDO:0044276 semapv:UnspecifiedMatching OMIM:612274 ciliary dyskinesia, primary, 8 skos:exactMatch MONDO:0012844 semapv:UnspecifiedMatching +OMIM:612274 ciliary dyskinesia, primary, 8 skos:exactMatch hgnc.symbol:CILD8 semapv:UnspecifiedMatching OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:19357 semapv:UnspecifiedMatching OMIM:612275 GGNBP2 skos:exactMatch hgnc.symbol:GGNBP2 semapv:UnspecifiedMatching OMIM:612275 GGNBP2 skos:exactMatch ncbigene:79893 semapv:UnspecifiedMatching @@ -61051,6 +61854,7 @@ OMIM:612277 ADAMTSL2 skos:exactMatch hgnc.symbol:ADAMTSL2 semapv:UnspecifiedMat OMIM:612277 ADAMTSL2 skos:exactMatch ncbigene:9719 semapv:UnspecifiedMatching OMIM:612278 inflammatory bowel disease (crohn disease) 19 skos:exactMatch MONDO:0012845 semapv:UnspecifiedMatching OMIM:612279 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch MONDO:0012846 semapv:UnspecifiedMatching +OMIM:612279 generalized epilepsy with febrile seizures plus, type 6 skos:exactMatch hgnc.symbol:GEFSP6 semapv:UnspecifiedMatching OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:4006 semapv:UnspecifiedMatching OMIM:612280 FUCA1 skos:exactMatch hgnc.symbol:FUCA1 semapv:UnspecifiedMatching OMIM:612280 FUCA1 skos:exactMatch ncbigene:2517 semapv:UnspecifiedMatching @@ -61068,6 +61872,7 @@ OMIM:612285 joubert syndrome 9 skos:exactMatch UMLS:C2676788 semapv:Unspecified OMIM:612286 nephrolithiasis/osteoporosis, hypophosphatemic, 1 skos:exactMatch MONDO:0012850 semapv:UnspecifiedMatching OMIM:612287 nephrolithiasis/osteoporosis, hypophosphatemic, 2 skos:exactMatch MONDO:0012851 semapv:UnspecifiedMatching OMIM:612288 inflammatory bowel disease 20 skos:exactMatch MONDO:0012852 semapv:UnspecifiedMatching +OMIM:612288 inflammatory bowel disease 20 skos:exactMatch hgnc.symbol:IBD20 semapv:UnspecifiedMatching OMIM:612289 fontaine progeroid syndrome skos:exactMatch MONDO:0012853 semapv:UnspecifiedMatching OMIM:612290 microtia, hearing impairment, and cleft palate skos:exactMatch MONDO:0012854 semapv:UnspecifiedMatching OMIM:612291 joubert syndrome 8 skos:exactMatch MONDO:0012855 semapv:UnspecifiedMatching @@ -61077,6 +61882,7 @@ OMIM:612292 birk-barel syndrome skos:exactMatch MONDO:0012856 semapv:Unspecifie OMIM:612292 birk-barel syndrome skos:exactMatch Orphanet:166108 semapv:UnspecifiedMatching OMIM:612292 birk-barel syndrome skos:exactMatch UMLS:C2676770 semapv:UnspecifiedMatching OMIM:612293 porokeratosis 5, disseminated superficial actinic type skos:exactMatch MONDO:0012857 semapv:UnspecifiedMatching +OMIM:612293 porokeratosis 5, disseminated superficial actinic type skos:exactMatch hgnc.symbol:POROK5 semapv:UnspecifiedMatching OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:29899 semapv:UnspecifiedMatching OMIM:612294 DEPDC7 skos:exactMatch hgnc.symbol:DEPDC7 semapv:UnspecifiedMatching OMIM:612294 DEPDC7 skos:exactMatch ncbigene:91614 semapv:UnspecifiedMatching @@ -61108,6 +61914,7 @@ OMIM:612304 thrombophilia due to protein c deficiency, autosomal recessive skos: OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:19240 semapv:UnspecifiedMatching OMIM:612305 ADGRE4P skos:exactMatch hgnc.symbol:ADGRE4P semapv:UnspecifiedMatching OMIM:612305 ADGRE4P skos:exactMatch ncbigene:326342 semapv:UnspecifiedMatching +OMIM:612306 thyroid-stimulating hormone level quantitative trait locus 1 skos:exactMatch hgnc.symbol:TSHQTL1 semapv:UnspecifiedMatching OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:19241 semapv:UnspecifiedMatching OMIM:612307 ADGRG7 skos:exactMatch hgnc.symbol:ADGRG7 semapv:UnspecifiedMatching OMIM:612307 ADGRG7 skos:exactMatch ncbigene:84873 semapv:UnspecifiedMatching @@ -61119,7 +61926,9 @@ OMIM:612309 F5 skos:exactMatch hgnc.symbol:F5 semapv:UnspecifiedMatching OMIM:612309 F5 skos:exactMatch ncbigene:2153 semapv:UnspecifiedMatching OMIM:612310 premature ovarian failure 6 skos:exactMatch MONDO:0012861 semapv:UnspecifiedMatching OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:exactMatch MONDO:0012862 semapv:UnspecifiedMatching +OMIM:612311 attention deficit-hyperactivity disorder, susceptibility to, 5 skos:exactMatch hgnc.symbol:ADHD5 semapv:UnspecifiedMatching OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:exactMatch MONDO:0012863 semapv:UnspecifiedMatching +OMIM:612312 attention deficit-hyperactivity disorder, susceptibility to, 6 skos:exactMatch hgnc.symbol:ADHD6 semapv:UnspecifiedMatching OMIM:612313 glass syndrome skos:exactMatch MONDO:0012864 semapv:UnspecifiedMatching OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:23064 semapv:UnspecifiedMatching OMIM:612314 GSTO2 skos:exactMatch hgnc.symbol:GSTO2 semapv:UnspecifiedMatching @@ -61189,6 +61998,7 @@ OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:21683 semapv:UnspecifiedMatchin OMIM:612334 NAPEPLD skos:exactMatch hgnc.symbol:NAPEPLD semapv:UnspecifiedMatching OMIM:612334 NAPEPLD skos:exactMatch ncbigene:222236 semapv:UnspecifiedMatching OMIM:612335 spastic paraplegia 38, autosomal dominant skos:exactMatch MONDO:0012867 semapv:UnspecifiedMatching +OMIM:612335 spastic paraplegia 38, autosomal dominant skos:exactMatch hgnc.symbol:SPG38 semapv:UnspecifiedMatching OMIM:612336 thrombophilia due to protein s deficiency, autosomal dominant skos:exactMatch MONDO:0012868 semapv:UnspecifiedMatching OMIM:612337 intellectual developmental disorder, autosomal dominant 22 skos:exactMatch MONDO:0012869 semapv:UnspecifiedMatching OMIM:612338 GGTLC1 skos:exactMatch hgnc.symbol:16437 semapv:UnspecifiedMatching @@ -61206,6 +62016,7 @@ OMIM:612341 GGT6 skos:exactMatch ncbigene:124975 semapv:UnspecifiedMatching OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:4259 semapv:UnspecifiedMatching OMIM:612342 GGT7 skos:exactMatch hgnc.symbol:GGT7 semapv:UnspecifiedMatching OMIM:612342 GGT7 skos:exactMatch ncbigene:2686 semapv:UnspecifiedMatching +OMIM:612343 musical aptitude quantitative trait locus skos:exactMatch hgnc.symbol:MUSQTL1 semapv:UnspecifiedMatching OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:26332 semapv:UnspecifiedMatching OMIM:612344 ZNF385B skos:exactMatch hgnc.symbol:ZNF385B semapv:UnspecifiedMatching OMIM:612344 ZNF385B skos:exactMatch ncbigene:151126 semapv:UnspecifiedMatching @@ -61215,6 +62026,7 @@ OMIM:612346 GGT1 skos:exactMatch hgnc.symbol:GGT1 semapv:UnspecifiedMatching OMIM:612346 GGT1 skos:exactMatch ncbigene:2678 semapv:UnspecifiedMatching OMIM:612347 jervell and lange-nielsen syndrome 2 skos:exactMatch MONDO:0012871 semapv:UnspecifiedMatching OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch MONDO:0012872 semapv:UnspecifiedMatching +OMIM:612348 thrombophilia, familial, due to decreased release of tissue plasminogen activator skos:exactMatch hgnc.symbol:THPH9 semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch UMLS:C0751434 semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch UMLS:C1418251 semapv:UnspecifiedMatching OMIM:612349 PAH skos:exactMatch UMLS:C2676533 semapv:UnspecifiedMatching @@ -61230,9 +62042,12 @@ OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:24105 semapv:UnspecifiedMatchi OMIM:612352 STAMBPL1 skos:exactMatch hgnc.symbol:STAMBPL1 semapv:UnspecifiedMatching OMIM:612352 STAMBPL1 skos:exactMatch ncbigene:57559 semapv:UnspecifiedMatching OMIM:612353 porokeratosis 6, multiple types skos:exactMatch MONDO:0012874 semapv:UnspecifiedMatching +OMIM:612353 porokeratosis 6, multiple types skos:exactMatch hgnc.symbol:POROK6 semapv:UnspecifiedMatching OMIM:612354 inflammatory bowel disease 21 skos:exactMatch MONDO:0012875 semapv:UnspecifiedMatching +OMIM:612354 inflammatory bowel disease 21 skos:exactMatch hgnc.symbol:IBD21 semapv:UnspecifiedMatching OMIM:612356 heparin cofactor 2 deficiency skos:exactMatch MONDO:0012876 semapv:UnspecifiedMatching OMIM:612357 major affective disorder 8 skos:exactMatch MONDO:0012877 semapv:UnspecifiedMatching +OMIM:612357 major affective disorder 8 skos:exactMatch hgnc.symbol:MAFD8 semapv:UnspecifiedMatching OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:6383 semapv:UnspecifiedMatching OMIM:612358 KNG1 skos:exactMatch hgnc.symbol:KNG1 semapv:UnspecifiedMatching OMIM:612358 KNG1 skos:exactMatch ncbigene:3827 semapv:UnspecifiedMatching @@ -61240,9 +62055,14 @@ OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:15899 semapv:UnspecifiedMatchin OMIM:612360 NDUFAF5 skos:exactMatch hgnc.symbol:NDUFAF5 semapv:UnspecifiedMatching OMIM:612360 NDUFAF5 skos:exactMatch ncbigene:79133 semapv:UnspecifiedMatching OMIM:612361 schizophrenia 14 skos:exactMatch MONDO:0012879 semapv:UnspecifiedMatching +OMIM:612361 schizophrenia 14 skos:exactMatch hgnc.symbol:SCZD14 semapv:UnspecifiedMatching +OMIM:612367 alkaline phosphatase, plasma level of, quantitative trait locus 2 skos:exactMatch hgnc.symbol:ALPQTL2 semapv:UnspecifiedMatching +OMIM:612368 alkaline phosphatase, plasma level of, quantitative trait locus 3 skos:exactMatch hgnc.symbol:ALPQTL3 semapv:UnspecifiedMatching +OMIM:612369 alkaline phosphatase, plasma level of, quantitative trait locus 4 skos:exactMatch hgnc.symbol:ALPQTL4 semapv:UnspecifiedMatching OMIM:612370 hypogonadotropic hypogonadism 5 with or without anosmia skos:exactMatch MONDO:0012880 semapv:UnspecifiedMatching OMIM:612371 major affective disorder 7 skos:exactMatch MONDO:0012881 semapv:UnspecifiedMatching OMIM:612372 major affective disorder 9 skos:exactMatch MONDO:0012882 semapv:UnspecifiedMatching +OMIM:612372 major affective disorder 9 skos:exactMatch hgnc.symbol:MAFD9 semapv:UnspecifiedMatching OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:23096 semapv:UnspecifiedMatching OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch hgnc.symbol:SLC29A3 semapv:UnspecifiedMatching OMIM:612373 solute carrier family 29 (nucleoside transporter), member 3: slc29a3 skos:exactMatch ncbigene:55315 semapv:UnspecifiedMatching @@ -61259,9 +62079,12 @@ OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:24015 semapv:UnspecifiedMatching OMIM:612377 COMMD6 skos:exactMatch hgnc.symbol:COMMD6 semapv:UnspecifiedMatching OMIM:612377 COMMD6 skos:exactMatch ncbigene:170622 semapv:UnspecifiedMatching OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch MONDO:0012884 semapv:UnspecifiedMatching +OMIM:612378 systemic lupus erythematosus, susceptibility to, 13 skos:exactMatch hgnc.symbol:SLEB13 semapv:UnspecifiedMatching OMIM:612379 congenital disorder of glycosylation, type iq skos:exactMatch MONDO:0012885 semapv:UnspecifiedMatching OMIM:612380 inflammatory bowel disease 22 skos:exactMatch MONDO:0012886 semapv:UnspecifiedMatching +OMIM:612380 inflammatory bowel disease 22 skos:exactMatch hgnc.symbol:IBD22 semapv:UnspecifiedMatching OMIM:612381 inflammatory bowel disease 23 skos:exactMatch MONDO:0012887 semapv:UnspecifiedMatching +OMIM:612381 inflammatory bowel disease 23 skos:exactMatch hgnc.symbol:IBD23 semapv:UnspecifiedMatching OMIM:612382 MED10 skos:exactMatch hgnc.symbol:28760 semapv:UnspecifiedMatching OMIM:612382 MED10 skos:exactMatch hgnc.symbol:MED10 semapv:UnspecifiedMatching OMIM:612382 MED10 skos:exactMatch ncbigene:84246 semapv:UnspecifiedMatching @@ -61281,6 +62104,7 @@ OMIM:612386 FECH skos:exactMatch hgnc.symbol:FECH semapv:UnspecifiedMatching OMIM:612386 FECH skos:exactMatch ncbigene:2235 semapv:UnspecifiedMatching OMIM:612387 sarcoidosis, susceptibility to, 2 skos:exactMatch MONDO:0012888 semapv:UnspecifiedMatching OMIM:612388 sarcoidosis, susceptibility to, 3 skos:exactMatch MONDO:0012889 semapv:UnspecifiedMatching +OMIM:612388 sarcoidosis, susceptibility to, 3 skos:exactMatch hgnc.symbol:SS3 semapv:UnspecifiedMatching OMIM:612389 pontocerebellar hypoplasia, type 2b skos:exactMatch MONDO:0012890 semapv:UnspecifiedMatching OMIM:612390 pontocerebellar hypoplasia, type 2c skos:exactMatch MONDO:0012891 semapv:UnspecifiedMatching OMIM:612392 NDUFAF6 skos:exactMatch UMLS:C1824247 semapv:UnspecifiedMatching @@ -61311,6 +62135,7 @@ OMIM:612399 TLE6 skos:exactMatch hgnc.symbol:TLE6 semapv:UnspecifiedMatching OMIM:612399 TLE6 skos:exactMatch ncbigene:79816 semapv:UnspecifiedMatching OMIM:612400 osteoarthritis susceptibility 5 skos:exactMatch MONDO:0012893 semapv:UnspecifiedMatching OMIM:612401 osteoarthritis susceptibility 6 skos:exactMatch MONDO:0012894 semapv:UnspecifiedMatching +OMIM:612401 osteoarthritis susceptibility 6 skos:exactMatch hgnc.symbol:OS6 semapv:UnspecifiedMatching OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:20605 semapv:UnspecifiedMatching OMIM:612402 ALS2CL skos:exactMatch hgnc.symbol:ALS2CL semapv:UnspecifiedMatching OMIM:612402 ALS2CL skos:exactMatch ncbigene:259173 semapv:UnspecifiedMatching @@ -61326,6 +62151,7 @@ OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:23592 semapv:UnspecifiedMatching OMIM:612405 ARL9 skos:exactMatch hgnc.symbol:ARL9 semapv:UnspecifiedMatching OMIM:612405 ARL9 skos:exactMatch ncbigene:132946 semapv:UnspecifiedMatching OMIM:612406 dystonia 17, torsion, autosomal recessive skos:exactMatch MONDO:0012895 semapv:UnspecifiedMatching +OMIM:612406 dystonia 17, torsion, autosomal recessive skos:exactMatch hgnc.symbol:DYT17 semapv:UnspecifiedMatching OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:26839 semapv:UnspecifiedMatching OMIM:612407 RGS21 skos:exactMatch hgnc.symbol:RGS21 semapv:UnspecifiedMatching OMIM:612407 RGS21 skos:exactMatch ncbigene:431704 semapv:UnspecifiedMatching @@ -61336,6 +62162,7 @@ OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:14219 semapv:UnspecifiedMatching OMIM:612409 RBM14 skos:exactMatch hgnc.symbol:RBM14 semapv:UnspecifiedMatching OMIM:612409 RBM14 skos:exactMatch ncbigene:10432 semapv:UnspecifiedMatching OMIM:612410 psoriasis 10, susceptibility to skos:exactMatch MONDO:0012896 semapv:UnspecifiedMatching +OMIM:612410 psoriasis 10, susceptibility to skos:exactMatch hgnc.symbol:PSORS10 semapv:UnspecifiedMatching OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:23109 semapv:UnspecifiedMatching OMIM:612411 FAT4 skos:exactMatch hgnc.symbol:FAT4 semapv:UnspecifiedMatching OMIM:612411 FAT4 skos:exactMatch ncbigene:79633 semapv:UnspecifiedMatching @@ -61355,6 +62182,7 @@ OMIM:612415 RAB24 skos:exactMatch hgnc.symbol:RAB24 semapv:UnspecifiedMatching OMIM:612415 RAB24 skos:exactMatch ncbigene:53917 semapv:UnspecifiedMatching OMIM:612416 factor 11 deficiency skos:exactMatch MONDO:0012897 semapv:UnspecifiedMatching OMIM:612417 narcolepsy 4, susceptibility to skos:exactMatch MONDO:0012898 semapv:UnspecifiedMatching +OMIM:612417 narcolepsy 4, susceptibility to skos:exactMatch hgnc.symbol:NRCLP4 semapv:UnspecifiedMatching OMIM:612418 TMEM70 skos:exactMatch UMLS:C1823334 semapv:UnspecifiedMatching OMIM:612418 TMEM70 skos:exactMatch UMLS:C3279699 semapv:UnspecifiedMatching OMIM:612418 TMEM70 skos:exactMatch hgnc.symbol:26050 semapv:UnspecifiedMatching @@ -61367,6 +62195,7 @@ OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:25901 semapv:UnspecifiedMatchin OMIM:612420 AFAP1L2 skos:exactMatch hgnc.symbol:AFAP1L2 semapv:UnspecifiedMatching OMIM:612420 AFAP1L2 skos:exactMatch ncbigene:84632 semapv:UnspecifiedMatching OMIM:612421 alopecia, androgenetic, 3 skos:exactMatch MONDO:0012899 semapv:UnspecifiedMatching +OMIM:612421 alopecia, androgenetic, 3 skos:exactMatch hgnc.symbol:AGA3 semapv:UnspecifiedMatching OMIM:612422 cardiomyopathy, familial restrictive, 3 skos:exactMatch MONDO:0012900 semapv:UnspecifiedMatching OMIM:612423 prekallikrein deficiency skos:exactMatch MONDO:0012901 semapv:UnspecifiedMatching OMIM:612424 EYS skos:exactMatch hgnc.symbol:21555 semapv:UnspecifiedMatching @@ -61396,6 +62225,7 @@ OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:22004 semapv:UnspecifiedMatching OMIM:612432 WIPF3 skos:exactMatch hgnc.symbol:WIPF3 semapv:UnspecifiedMatching OMIM:612432 WIPF3 skos:exactMatch ncbigene:644150 semapv:UnspecifiedMatching OMIM:612433 deafness, autosomal recessive 45 skos:exactMatch MONDO:0012903 semapv:UnspecifiedMatching +OMIM:612433 deafness, autosomal recessive 45 skos:exactMatch hgnc.symbol:DFNB45 semapv:UnspecifiedMatching OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:25248 semapv:UnspecifiedMatching OMIM:612434 CRISPLD2 skos:exactMatch hgnc.symbol:CRISPLD2 semapv:UnspecifiedMatching OMIM:612434 CRISPLD2 skos:exactMatch ncbigene:83716 semapv:UnspecifiedMatching @@ -61421,6 +62251,7 @@ OMIM:612445 scoliosis, arachnodactyly, and blindness skos:exactMatch MONDO:00129 OMIM:612446 complement component 6 deficiency skos:exactMatch MONDO:0012908 semapv:UnspecifiedMatching OMIM:612447 skeletal defects, genital hypoplasia, and impaired intellectual development skos:exactMatch MONDO:0012909 semapv:UnspecifiedMatching OMIM:612448 age-related hearing impairment 1 skos:exactMatch MONDO:0012910 semapv:UnspecifiedMatching +OMIM:612448 age-related hearing impairment 1 skos:exactMatch hgnc.symbol:ARHI1 semapv:UnspecifiedMatching OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:26881 semapv:UnspecifiedMatching OMIM:612449 GEN1 skos:exactMatch hgnc.symbol:GEN1 semapv:UnspecifiedMatching OMIM:612449 GEN1 skos:exactMatch ncbigene:348654 semapv:UnspecifiedMatching @@ -61454,6 +62285,7 @@ OMIM:612458 ACTL6B skos:exactMatch UMLS:C5193115 semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:160 semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch hgnc.symbol:ACTL6B semapv:UnspecifiedMatching OMIM:612458 ACTL6B skos:exactMatch ncbigene:51412 semapv:UnspecifiedMatching +OMIM:612459 body mass index quantitative trait locus 13 skos:exactMatch hgnc.symbol:BMIQ13 semapv:UnspecifiedMatching OMIM:612461 ARC skos:exactMatch hgnc.symbol:648 semapv:UnspecifiedMatching OMIM:612461 ARC skos:exactMatch hgnc.symbol:ARC semapv:UnspecifiedMatching OMIM:612461 ARC skos:exactMatch ncbigene:23237 semapv:UnspecifiedMatching @@ -61606,6 +62438,7 @@ OMIM:612512 MIRN101-2 skos:exactMatch hgnc.symbol:MIR101-2 semapv:UnspecifiedMa OMIM:612512 MIRN101-2 skos:exactMatch ncbigene:406894 semapv:UnspecifiedMatching OMIM:612513 chromosome 2p16.1-p15 deletion syndrome skos:exactMatch MONDO:0012916 semapv:UnspecifiedMatching OMIM:612514 specific language impairment 4 skos:exactMatch MONDO:0012917 semapv:UnspecifiedMatching +OMIM:612514 specific language impairment 4 skos:exactMatch hgnc.symbol:SLI4 semapv:UnspecifiedMatching OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:25784 semapv:UnspecifiedMatching OMIM:612515 DCAF17 skos:exactMatch hgnc.symbol:DCAF17 semapv:UnspecifiedMatching OMIM:612515 DCAF17 skos:exactMatch ncbigene:80067 semapv:UnspecifiedMatching @@ -61632,6 +62465,7 @@ OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:21300 semapv:UnspecifiedMatching OMIM:612524 RPP21 skos:exactMatch hgnc.symbol:RPP21 semapv:UnspecifiedMatching OMIM:612524 RPP21 skos:exactMatch ncbigene:79897 semapv:UnspecifiedMatching OMIM:612525 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch MONDO:0012922 semapv:UnspecifiedMatching +OMIM:612525 pyloric stenosis, infantile hypertrophic, 5 skos:exactMatch hgnc.symbol:IHPS5 semapv:UnspecifiedMatching OMIM:612526 lipodystrophy, congenital generalized, type 3 skos:exactMatch MONDO:0012923 semapv:UnspecifiedMatching OMIM:612527 diamond-blackfan anemia 4 skos:exactMatch MONDO:0012924 semapv:UnspecifiedMatching OMIM:612528 diamond-blackfan anemia 5 skos:exactMatch MONDO:0012925 semapv:UnspecifiedMatching @@ -61698,10 +62532,14 @@ OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:31784 semapv:UnspecifiedMatching OMIM:612553 MIR370 skos:exactMatch hgnc.symbol:MIR370 semapv:UnspecifiedMatching OMIM:612553 MIR370 skos:exactMatch ncbigene:442915 semapv:UnspecifiedMatching OMIM:612554 myopia 16, autosomal dominant skos:exactMatch MONDO:0012932 semapv:UnspecifiedMatching +OMIM:612554 myopia 16, autosomal dominant skos:exactMatch hgnc.symbol:MYP16 semapv:UnspecifiedMatching OMIM:612555 breast-ovarian cancer, familial, susceptibility to, 2 skos:exactMatch MONDO:0012933 semapv:UnspecifiedMatching OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch MONDO:0012934 semapv:UnspecifiedMatching +OMIM:612557 leukemia, chronic lymphocytic, susceptibility to, 3 skos:exactMatch hgnc.symbol:CLLS3 semapv:UnspecifiedMatching OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch MONDO:0012935 semapv:UnspecifiedMatching +OMIM:612558 leukemia, chronic lymphocytic, susceptibility to, 4 skos:exactMatch hgnc.symbol:CLLS4 semapv:UnspecifiedMatching OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch MONDO:0012936 semapv:UnspecifiedMatching +OMIM:612559 leukemia, chronic lymphocytic, susceptibility to, 5 skos:exactMatch hgnc.symbol:CLLS5 semapv:UnspecifiedMatching OMIM:612561 diamond-blackfan anemia 6 skos:exactMatch MONDO:0012937 semapv:UnspecifiedMatching OMIM:612562 diamond-blackfan anemia 7 skos:exactMatch MONDO:0012938 semapv:UnspecifiedMatching OMIM:612563 diamond-blackfan anemia 8 skos:exactMatch MONDO:0012939 semapv:UnspecifiedMatching @@ -61712,6 +62550,7 @@ OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:18370 semapv:UnspecifiedMatching OMIM:612565 RAB1B skos:exactMatch hgnc.symbol:RAB1B semapv:UnspecifiedMatching OMIM:612565 RAB1B skos:exactMatch ncbigene:81876 semapv:UnspecifiedMatching OMIM:612566 inflammatory bowel disease 24 skos:exactMatch MONDO:0012940 semapv:UnspecifiedMatching +OMIM:612566 inflammatory bowel disease 24 skos:exactMatch hgnc.symbol:IBD24 semapv:UnspecifiedMatching OMIM:612567 inflammatory bowel disease 25, autosomal recessive skos:exactMatch MONDO:0012941 semapv:UnspecifiedMatching OMIM:612568 SPIC skos:exactMatch hgnc.symbol:29549 semapv:UnspecifiedMatching OMIM:612568 SPIC skos:exactMatch hgnc.symbol:SPIC semapv:UnspecifiedMatching @@ -61723,13 +62562,20 @@ OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:3604 semapv:UnspecifiedMatching OMIM:612570 FBN2 skos:exactMatch hgnc.symbol:FBN2 semapv:UnspecifiedMatching OMIM:612570 FBN2 skos:exactMatch ncbigene:2201 semapv:UnspecifiedMatching OMIM:612571 lung cancer susceptibility 3 skos:exactMatch MONDO:0012942 semapv:UnspecifiedMatching +OMIM:612571 lung cancer susceptibility 3 skos:exactMatch hgnc.symbol:LNCR3 semapv:UnspecifiedMatching OMIM:612572 retinitis pigmentosa 46 skos:exactMatch MONDO:0012943 semapv:UnspecifiedMatching OMIM:612572 retinitis pigmentosa 46 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:612572 retinitis pigmentosa 46 skos:exactMatch UMLS:C2675496 semapv:UnspecifiedMatching +OMIM:612573 mean platelet volume/count quantitative trait locus 1 skos:exactMatch hgnc.symbol:MPVQTL1 semapv:UnspecifiedMatching +OMIM:612574 mean platelet volume/count quantitative trait locus 2 skos:exactMatch hgnc.symbol:MPVQTL2 semapv:UnspecifiedMatching +OMIM:612575 mean platelet volume/count quantitative trait locus 3 skos:exactMatch hgnc.symbol:MPVQTL3 semapv:UnspecifiedMatching OMIM:612576 chromosome 17p13.3, telomeric, duplication syndrome skos:exactMatch MONDO:0012944 semapv:UnspecifiedMatching OMIM:612577 amyotrophic lateral sclerosis 11 skos:exactMatch MONDO:0012945 semapv:UnspecifiedMatching +OMIM:612578 stature quantitative trait locus 15 skos:exactMatch hgnc.symbol:STQTL15 semapv:UnspecifiedMatching +OMIM:612579 stature quantitative trait locus 16 skos:exactMatch hgnc.symbol:STQTL16 semapv:UnspecifiedMatching OMIM:612580 intellectual developmental disorder, autosomal dominant 3 skos:exactMatch MONDO:0012946 semapv:UnspecifiedMatching OMIM:612581 intellectual developmental disorder, autosomal dominant 4 skos:exactMatch MONDO:0012947 semapv:UnspecifiedMatching +OMIM:612581 intellectual developmental disorder, autosomal dominant 4 skos:exactMatch hgnc.symbol:MRD4 semapv:UnspecifiedMatching OMIM:612582 chromosome 6pter-p24 deletion syndrome skos:exactMatch MONDO:0012948 semapv:UnspecifiedMatching OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:30621 semapv:UnspecifiedMatching OMIM:612583 SPNS1 skos:exactMatch hgnc.symbol:SPNS1 semapv:UnspecifiedMatching @@ -61741,19 +62587,28 @@ OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:24308 semapv:UnspecifiedMatchin OMIM:612585 CLPTM1L skos:exactMatch hgnc.symbol:CLPTM1L semapv:UnspecifiedMatching OMIM:612585 CLPTM1L skos:exactMatch ncbigene:81037 semapv:UnspecifiedMatching OMIM:612586 aneurysm, intracranial berry, 9 skos:exactMatch MONDO:0012949 semapv:UnspecifiedMatching +OMIM:612586 aneurysm, intracranial berry, 9 skos:exactMatch hgnc.symbol:ANIB9 semapv:UnspecifiedMatching OMIM:612587 aneurysm, intracranial berry, 10 skos:exactMatch MONDO:0012950 semapv:UnspecifiedMatching +OMIM:612587 aneurysm, intracranial berry, 10 skos:exactMatch hgnc.symbol:ANIB10 semapv:UnspecifiedMatching OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:16863 semapv:UnspecifiedMatching OMIM:612588 BCLAF1 skos:exactMatch hgnc.symbol:BCLAF1 semapv:UnspecifiedMatching OMIM:612588 BCLAF1 skos:exactMatch ncbigene:9774 semapv:UnspecifiedMatching OMIM:612589 colorectal cancer, susceptibility to, 8 skos:exactMatch MONDO:0012951 semapv:UnspecifiedMatching +OMIM:612589 colorectal cancer, susceptibility to, 8 skos:exactMatch hgnc.symbol:CRCS8 semapv:UnspecifiedMatching OMIM:612590 colorectal cancer, susceptibility to, 9 skos:exactMatch MONDO:0012952 semapv:UnspecifiedMatching +OMIM:612590 colorectal cancer, susceptibility to, 9 skos:exactMatch hgnc.symbol:CRCS9 semapv:UnspecifiedMatching OMIM:612591 colorectal cancer, susceptibility to, 10 skos:exactMatch MONDO:0012953 semapv:UnspecifiedMatching OMIM:612592 colorectal cancer, susceptibility to, 11 skos:exactMatch MONDO:0012954 semapv:UnspecifiedMatching +OMIM:612592 colorectal cancer, susceptibility to, 11 skos:exactMatch hgnc.symbol:CRCS11 semapv:UnspecifiedMatching OMIM:612593 lung cancer susceptibility 4 skos:exactMatch MONDO:0012955 semapv:UnspecifiedMatching +OMIM:612593 lung cancer susceptibility 4 skos:exactMatch hgnc.symbol:LNCR4 semapv:UnspecifiedMatching OMIM:612594 multiple sclerosis, susceptibility to, 2 skos:exactMatch MONDO:0012956 semapv:UnspecifiedMatching +OMIM:612594 multiple sclerosis, susceptibility to, 2 skos:exactMatch hgnc.symbol:MS2 semapv:UnspecifiedMatching OMIM:612595 multiple sclerosis, susceptibility to, 3 skos:exactMatch MONDO:0012957 semapv:UnspecifiedMatching OMIM:612595 multiple sclerosis, susceptibility to, 3 skos:exactMatch UMLS:C2675477 semapv:UnspecifiedMatching +OMIM:612595 multiple sclerosis, susceptibility to, 3 skos:exactMatch hgnc.symbol:MS3 semapv:UnspecifiedMatching OMIM:612596 multiple sclerosis, susceptibility to, 4 skos:exactMatch MONDO:0012958 semapv:UnspecifiedMatching +OMIM:612596 multiple sclerosis, susceptibility to, 4 skos:exactMatch hgnc.symbol:MS4 semapv:UnspecifiedMatching OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:24313 semapv:UnspecifiedMatching OMIM:612597 CRTAM skos:exactMatch hgnc.symbol:CRTAM semapv:UnspecifiedMatching OMIM:612597 CRTAM skos:exactMatch ncbigene:56253 semapv:UnspecifiedMatching @@ -61761,6 +62616,7 @@ OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:10056 semapv:UnspecifiedMatching OMIM:612598 RNF11 skos:exactMatch hgnc.symbol:RNF11 semapv:UnspecifiedMatching OMIM:612598 RNF11 skos:exactMatch ncbigene:26994 semapv:UnspecifiedMatching OMIM:612599 psoriasis 11, susceptibility to skos:exactMatch MONDO:0012959 semapv:UnspecifiedMatching +OMIM:612599 psoriasis 11, susceptibility to skos:exactMatch hgnc.symbol:PSORS11 semapv:UnspecifiedMatching OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:18485 semapv:UnspecifiedMatching OMIM:612600 RNMTL1 skos:exactMatch hgnc.symbol:MRM3 semapv:UnspecifiedMatching OMIM:612600 RNMTL1 skos:exactMatch ncbigene:55178 semapv:UnspecifiedMatching @@ -61828,6 +62684,7 @@ OMIM:612620 RASSF6 skos:exactMatch ncbigene:166824 semapv:UnspecifiedMatching OMIM:612621 intellectual developmental disorder, autosomal dominant 5 skos:exactMatch MONDO:0012960 semapv:UnspecifiedMatching OMIM:612622 type 1 diabetes mellitus 23 skos:exactMatch MONDO:0012961 semapv:UnspecifiedMatching OMIM:612622 type 1 diabetes mellitus 23 skos:exactMatch UMLS:C2675472 semapv:UnspecifiedMatching +OMIM:612622 type 1 diabetes mellitus 23 skos:exactMatch hgnc.symbol:IDDM23 semapv:UnspecifiedMatching OMIM:612623 microvascular complications of diabetes, susceptibility to, 2 skos:exactMatch MONDO:0012962 semapv:UnspecifiedMatching OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 skos:exactMatch MONDO:0012963 semapv:UnspecifiedMatching OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbol:23038 semapv:UnspecifiedMatching @@ -61835,20 +62692,26 @@ OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch hgnc.symbo OMIM:612625 lmbr1 domain-containing protein 1: lmbrd1 skos:exactMatch ncbigene:55788 semapv:UnspecifiedMatching OMIM:612626 chromosome 15q26-qter deletion syndrome skos:exactMatch MONDO:0012964 semapv:UnspecifiedMatching OMIM:612627 seizures, benign familial infantile, 4 skos:exactMatch MONDO:0012965 semapv:UnspecifiedMatching +OMIM:612627 seizures, benign familial infantile, 4 skos:exactMatch hgnc.symbol:BFIS4 semapv:UnspecifiedMatching OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 skos:exactMatch MONDO:0012966 semapv:UnspecifiedMatching +OMIM:612629 adiponectin, serum level of, quantitative trait locus 4 skos:exactMatch hgnc.symbol:ADIPQTL4 semapv:UnspecifiedMatching OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to skos:exactMatch MONDO:0012967 semapv:UnspecifiedMatching OMIM:612632 usher syndrome, type 1h skos:exactMatch MONDO:0012968 semapv:UnspecifiedMatching +OMIM:612632 usher syndrome, type 1h skos:exactMatch hgnc.symbol:USH1H semapv:UnspecifiedMatching OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 skos:exactMatch MONDO:0012969 semapv:UnspecifiedMatching OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 skos:exactMatch MONDO:0012970 semapv:UnspecifiedMatching OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 skos:exactMatch MONDO:0012971 semapv:UnspecifiedMatching +OMIM:612635 microvascular complications of diabetes, susceptibility to, 7 skos:exactMatch hgnc.symbol:MVCD7 semapv:UnspecifiedMatching OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:26582 semapv:UnspecifiedMatching OMIM:612636 UNC80 skos:exactMatch hgnc.symbol:UNC80 semapv:UnspecifiedMatching OMIM:612636 UNC80 skos:exactMatch ncbigene:285175 semapv:UnspecifiedMatching OMIM:612637 febrile seizures, familial, 10 skos:exactMatch MONDO:0012972 semapv:UnspecifiedMatching +OMIM:612637 febrile seizures, familial, 10 skos:exactMatch hgnc.symbol:FEB10 semapv:UnspecifiedMatching OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:20371 semapv:UnspecifiedMatching OMIM:612638 NDUFA11 skos:exactMatch hgnc.symbol:NDUFA11 semapv:UnspecifiedMatching OMIM:612638 NDUFA11 skos:exactMatch ncbigene:126328 semapv:UnspecifiedMatching OMIM:612639 inflammatory bowel disease 26 skos:exactMatch MONDO:0012973 semapv:UnspecifiedMatching +OMIM:612639 inflammatory bowel disease 26 skos:exactMatch hgnc.symbol:IBD26 semapv:UnspecifiedMatching OMIM:612640 TBATA skos:exactMatch hgnc.symbol:23511 semapv:UnspecifiedMatching OMIM:612640 TBATA skos:exactMatch hgnc.symbol:TBATA semapv:UnspecifiedMatching OMIM:612640 TBATA skos:exactMatch ncbigene:219793 semapv:UnspecifiedMatching @@ -61862,6 +62725,7 @@ OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:492 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch hgnc.symbol:ANK1 semapv:UnspecifiedMatching OMIM:612641 ANK1 skos:exactMatch ncbigene:286 semapv:UnspecifiedMatching OMIM:612642 deafness, autosomal dominant 59 skos:exactMatch MONDO:0012974 semapv:UnspecifiedMatching +OMIM:612642 deafness, autosomal dominant 59 skos:exactMatch hgnc.symbol:DFNA59 semapv:UnspecifiedMatching OMIM:612643 deafness, autosomal dominant 3b skos:exactMatch MONDO:0012975 semapv:UnspecifiedMatching OMIM:612644 deafness, autosomal dominant 2b skos:exactMatch MONDO:0012976 semapv:UnspecifiedMatching OMIM:612645 deafness, autosomal recessive 1b skos:exactMatch MONDO:0012977 semapv:UnspecifiedMatching @@ -62039,8 +62903,10 @@ OMIM:612712 leber congenital amaurosis 13 skos:exactMatch MONDO:0012990 semapv: OMIM:612713 kahrizi syndrome skos:exactMatch MONDO:0012991 semapv:UnspecifiedMatching OMIM:612714 exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis skos:exactMatch MONDO:0012992 semapv:UnspecifiedMatching OMIM:612715 dyschromatosis universalis hereditaria 2 skos:exactMatch MONDO:0012993 semapv:UnspecifiedMatching +OMIM:612715 dyschromatosis universalis hereditaria 2 skos:exactMatch hgnc.symbol:DUH2 semapv:UnspecifiedMatching OMIM:612716 dystonia, dopa-responsive, due to sepiapterin reductase deficiency skos:exactMatch MONDO:0012994 semapv:UnspecifiedMatching OMIM:612717 myopia 15, autosomal dominant skos:exactMatch MONDO:0012995 semapv:UnspecifiedMatching +OMIM:612717 myopia 15, autosomal dominant skos:exactMatch hgnc.symbol:MYP15 semapv:UnspecifiedMatching OMIM:612718 cerebral creatine deficiency syndrome 3 skos:exactMatch MONDO:0012996 semapv:UnspecifiedMatching OMIM:612719 PTS skos:exactMatch hgnc.symbol:9689 semapv:UnspecifiedMatching OMIM:612719 PTS skos:exactMatch hgnc.symbol:PTS semapv:UnspecifiedMatching @@ -62066,6 +62932,9 @@ OMIM:612724 ALDOB skos:exactMatch ncbigene:229 semapv:UnspecifiedMatching OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:9323 semapv:UnspecifiedMatching OMIM:612725 PPP6C skos:exactMatch hgnc.symbol:PPP6C semapv:UnspecifiedMatching OMIM:612725 PPP6C skos:exactMatch ncbigene:5537 semapv:UnspecifiedMatching +OMIM:612727 bone mineral density quantitative trait locus 13 skos:exactMatch hgnc.symbol:BMND13 semapv:UnspecifiedMatching +OMIM:612728 bone mineral density quantitative trait locus 14 skos:exactMatch hgnc.symbol:BMND14 semapv:UnspecifiedMatching +OMIM:612729 lean body mass quantitative trait locus 1 skos:exactMatch hgnc.symbol:LBMQTL1 semapv:UnspecifiedMatching OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:20728 semapv:UnspecifiedMatching OMIM:612730 SLC9A8 skos:exactMatch hgnc.symbol:SLC9A8 semapv:UnspecifiedMatching OMIM:612730 SLC9A8 skos:exactMatch ncbigene:23315 semapv:UnspecifiedMatching @@ -62089,6 +62958,7 @@ OMIM:612735 HLA-DRB3 skos:exactMatch ncbigene:3125 semapv:UnspecifiedMatching OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch MONDO:0012999 semapv:UnspecifiedMatching OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch Orphanet:382 semapv:UnspecifiedMatching OMIM:612736 cerebral creatine deficiency syndrome 2 skos:exactMatch UMLS:C0574080 semapv:UnspecifiedMatching +OMIM:612737 stature quantitative trait locus 17 skos:exactMatch hgnc.symbol:STQTL17 semapv:UnspecifiedMatching OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:31401 semapv:UnspecifiedMatching OMIM:612738 SLC9A10 skos:exactMatch hgnc.symbol:SLC9C1 semapv:UnspecifiedMatching OMIM:612738 SLC9A10 skos:exactMatch ncbigene:285335 semapv:UnspecifiedMatching @@ -62152,6 +63022,7 @@ OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:26887 semapv:UnspecifiedMatching OMIM:612758 TAPT1 skos:exactMatch hgnc.symbol:TAPT1 semapv:UnspecifiedMatching OMIM:612758 TAPT1 skos:exactMatch ncbigene:202018 semapv:UnspecifiedMatching OMIM:612759 synesthesia skos:exactMatch MONDO:0013001 semapv:UnspecifiedMatching +OMIM:612759 synesthesia skos:exactMatch hgnc.symbol:SYNSTH semapv:UnspecifiedMatching OMIM:612760 SNRK skos:exactMatch hgnc.symbol:30598 semapv:UnspecifiedMatching OMIM:612760 SNRK skos:exactMatch hgnc.symbol:SNRK semapv:UnspecifiedMatching OMIM:612760 SNRK skos:exactMatch ncbigene:54861 semapv:UnspecifiedMatching @@ -62234,6 +63105,7 @@ OMIM:612788 FOXQ1 skos:exactMatch hgnc.symbol:20951 semapv:UnspecifiedMatching OMIM:612788 FOXQ1 skos:exactMatch hgnc.symbol:FOXQ1 semapv:UnspecifiedMatching OMIM:612788 FOXQ1 skos:exactMatch ncbigene:94234 semapv:UnspecifiedMatching OMIM:612789 deafness, autosomal recessive 71 skos:exactMatch MONDO:0013010 semapv:UnspecifiedMatching +OMIM:612789 deafness, autosomal recessive 71 skos:exactMatch hgnc.symbol:DFNB71 semapv:UnspecifiedMatching OMIM:612790 ARHGEF28 skos:exactMatch hgnc.symbol:30322 semapv:UnspecifiedMatching OMIM:612790 ARHGEF28 skos:exactMatch hgnc.symbol:ARHGEF28 semapv:UnspecifiedMatching OMIM:612790 ARHGEF28 skos:exactMatch ncbigene:64283 semapv:UnspecifiedMatching @@ -62247,7 +63119,9 @@ OMIM:612793 PTDSS2 skos:exactMatch hgnc.symbol:15463 semapv:UnspecifiedMatching OMIM:612793 PTDSS2 skos:exactMatch hgnc.symbol:PTDSS2 semapv:UnspecifiedMatching OMIM:612793 PTDSS2 skos:exactMatch ncbigene:81490 semapv:UnspecifiedMatching OMIM:612794 atrial septal defect 5 skos:exactMatch MONDO:0013011 semapv:UnspecifiedMatching +OMIM:612795 polyunsaturated fatty acids plasma level quantitative trait locus 1 skos:exactMatch hgnc.symbol:PURAQTL1 semapv:UnspecifiedMatching OMIM:612796 inflammatory bowel disease 27 skos:exactMatch MONDO:0013012 semapv:UnspecifiedMatching +OMIM:612796 inflammatory bowel disease 27 skos:exactMatch hgnc.symbol:IBD27 semapv:UnspecifiedMatching OMIM:612798 question mark ears, isolated skos:exactMatch MONDO:0013013 semapv:UnspecifiedMatching OMIM:612799 EARS2 skos:exactMatch UMLS:C1825021 semapv:UnspecifiedMatching OMIM:612799 EARS2 skos:exactMatch UMLS:C3554079 semapv:UnspecifiedMatching @@ -62408,8 +63282,10 @@ OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:30829 semapv:UnspecifiedMatching OMIM:612850 TUBB2B skos:exactMatch hgnc.symbol:TUBB2B semapv:UnspecifiedMatching OMIM:612850 TUBB2B skos:exactMatch ncbigene:347733 semapv:UnspecifiedMatching OMIM:612851 narcolepsy 5, susceptibility to skos:exactMatch MONDO:0013020 semapv:UnspecifiedMatching +OMIM:612851 narcolepsy 5, susceptibility to skos:exactMatch hgnc.symbol:NRCLP5 semapv:UnspecifiedMatching OMIM:612852 chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis skos:exactMatch MONDO:0013021 semapv:UnspecifiedMatching OMIM:612853 restless legs syndrome, susceptibility to, 7 skos:exactMatch MONDO:0013022 semapv:UnspecifiedMatching +OMIM:612853 restless legs syndrome, susceptibility to, 7 skos:exactMatch hgnc.symbol:RLS7 semapv:UnspecifiedMatching OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:29006 semapv:UnspecifiedMatching OMIM:612854 SEC16A skos:exactMatch hgnc.symbol:SEC16A semapv:UnspecifiedMatching OMIM:612854 SEC16A skos:exactMatch ncbigene:9919 semapv:UnspecifiedMatching @@ -62423,6 +63299,7 @@ OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:19255 semapv:UnspecifiedMatching OMIM:612857 PLAC9 skos:exactMatch hgnc.symbol:PLAC9 semapv:UnspecifiedMatching OMIM:612857 PLAC9 skos:exactMatch ncbigene:219348 semapv:UnspecifiedMatching OMIM:612858 orofacial cleft 12 skos:exactMatch MONDO:0013023 semapv:UnspecifiedMatching +OMIM:612858 orofacial cleft 12 skos:exactMatch hgnc.symbol:OFC12 semapv:UnspecifiedMatching OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:26838 semapv:UnspecifiedMatching OMIM:612859 TIGIT skos:exactMatch hgnc.symbol:TIGIT semapv:UnspecifiedMatching OMIM:612859 TIGIT skos:exactMatch ncbigene:201633 semapv:UnspecifiedMatching @@ -62433,6 +63310,7 @@ OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:26934 semapv:UnspecifiedMatching OMIM:612861 NOP16 skos:exactMatch hgnc.symbol:NOP16 semapv:UnspecifiedMatching OMIM:612861 NOP16 skos:exactMatch ncbigene:51491 semapv:UnspecifiedMatching OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to skos:exactMatch MONDO:0013024 semapv:UnspecifiedMatching +OMIM:612862 pulmonary hypertension, chronic thromboembolic, without deep vein thrombosis, susceptibility to skos:exactMatch hgnc.symbol:CTEPH1 semapv:UnspecifiedMatching OMIM:612863 chromosome 6q24-q25 deletion syndrome skos:exactMatch MONDO:0013025 semapv:UnspecifiedMatching OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:30038 semapv:UnspecifiedMatching OMIM:612864 PLA2G4D skos:exactMatch hgnc.symbol:PLA2G4D semapv:UnspecifiedMatching @@ -62468,6 +63346,7 @@ OMIM:612874 erythrocyte amp deaminase deficiency skos:exactMatch MONDO:0020734 OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:16341 semapv:UnspecifiedMatching OMIM:612875 gonadotropin-releasing hormone receptor 2 skos:exactMatch hgnc.symbol:GNRHR2 semapv:UnspecifiedMatching OMIM:612876 spinocerebellar ataxia 9 skos:exactMatch MONDO:0013029 semapv:UnspecifiedMatching +OMIM:612876 spinocerebellar ataxia 9 skos:exactMatch hgnc.symbol:SCA9 semapv:UnspecifiedMatching OMIM:612877 cardiomyopathy, dilated, 1bb skos:exactMatch MONDO:0013030 semapv:UnspecifiedMatching OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:30578 semapv:UnspecifiedMatching OMIM:612878 EXPH5 skos:exactMatch hgnc.symbol:EXPH5 semapv:UnspecifiedMatching @@ -62479,7 +63358,11 @@ OMIM:612880 SYTL2 skos:exactMatch hgnc.symbol:15585 semapv:UnspecifiedMatching OMIM:612880 SYTL2 skos:exactMatch hgnc.symbol:SYTL2 semapv:UnspecifiedMatching OMIM:612880 SYTL2 skos:exactMatch ncbigene:54843 semapv:UnspecifiedMatching OMIM:612881 chromosome 5q14.3 deletion syndrome, distal skos:exactMatch MONDO:0013031 semapv:UnspecifiedMatching +OMIM:612882 menarche, age at, quantitative trait locus 2 skos:exactMatch hgnc.symbol:MENAQ2 semapv:UnspecifiedMatching +OMIM:612883 menarche, age at, quantitative trait locus 3 skos:exactMatch hgnc.symbol:MENAQ3 semapv:UnspecifiedMatching +OMIM:612884 menopause, natural, age at, quantitative trait locus 2 skos:exactMatch hgnc.symbol:MENOQ2 semapv:UnspecifiedMatching OMIM:612885 premature ovarian failure 10 skos:exactMatch MONDO:0044776 semapv:UnspecifiedMatching +OMIM:612886 menopause, natural, age at, quantitative trait locus 4 skos:exactMatch hgnc.symbol:MENOQ4 semapv:UnspecifiedMatching OMIM:612887 SEPT11 skos:exactMatch hgnc.symbol:25589 semapv:UnspecifiedMatching OMIM:612887 SEPT11 skos:exactMatch hgnc.symbol:SEPTIN11 semapv:UnspecifiedMatching OMIM:612887 SEPT11 skos:exactMatch ncbigene:55752 semapv:UnspecifiedMatching @@ -62495,6 +63378,9 @@ OMIM:612890 LRRC8D skos:exactMatch ncbigene:55144 semapv:UnspecifiedMatching OMIM:612891 LRRC8E skos:exactMatch hgnc.symbol:26272 semapv:UnspecifiedMatching OMIM:612891 LRRC8E skos:exactMatch hgnc.symbol:LRRC8E semapv:UnspecifiedMatching OMIM:612891 LRRC8E skos:exactMatch ncbigene:80131 semapv:UnspecifiedMatching +OMIM:612892 stature quantitative trait locus 18 skos:exactMatch hgnc.symbol:STQTL18 semapv:UnspecifiedMatching +OMIM:612893 stature quantitative trait locus 19 skos:exactMatch hgnc.symbol:STQTL19 semapv:UnspecifiedMatching +OMIM:612894 stature quantitative trait locus 20 skos:exactMatch hgnc.symbol:STQTL20 semapv:UnspecifiedMatching OMIM:612895 NXN skos:exactMatch hgnc.symbol:18008 semapv:UnspecifiedMatching OMIM:612895 NXN skos:exactMatch hgnc.symbol:NXN semapv:UnspecifiedMatching OMIM:612895 NXN skos:exactMatch ncbigene:64359 semapv:UnspecifiedMatching @@ -62575,6 +63461,7 @@ OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:26278 semapv:UnspecifiedMatching OMIM:612928 ISOC2 skos:exactMatch hgnc.symbol:ISOC2 semapv:UnspecifiedMatching OMIM:612928 ISOC2 skos:exactMatch ncbigene:79763 semapv:UnspecifiedMatching OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch MONDO:0013045 semapv:UnspecifiedMatching +OMIM:612929 mycobacterium tuberculosis, susceptibility to, 3 skos:exactMatch hgnc.symbol:MTBS3 semapv:UnspecifiedMatching OMIM:612930 PID1 skos:exactMatch hgnc.symbol:26084 semapv:UnspecifiedMatching OMIM:612930 PID1 skos:exactMatch hgnc.symbol:PID1 semapv:UnspecifiedMatching OMIM:612930 PID1 skos:exactMatch ncbigene:55022 semapv:UnspecifiedMatching @@ -62627,6 +63514,7 @@ OMIM:612955 long qt syndrome 12 skos:exactMatch MONDO:0013062 semapv:Unspecifie OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch MONDO:0013063 semapv:UnspecifiedMatching OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch Orphanet:228140 semapv:UnspecifiedMatching OMIM:612956 ventricular fibrillation, paroxysmal familial, 2 skos:exactMatch UMLS:C2751829 semapv:UnspecifiedMatching +OMIM:612957 vitamin b6 plasma level quantitative trait locus 1 skos:exactMatch hgnc.symbol:B6QTL1 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch UMLS:C1824568 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch UMLS:C5436689 semapv:UnspecifiedMatching OMIM:612958 TACO1 skos:exactMatch hgnc.symbol:24316 semapv:UnspecifiedMatching @@ -62652,6 +63540,7 @@ OMIM:612965 46,xy sex reversal 3 skos:exactMatch MONDO:0013066 semapv:Unspecifi OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:9764 semapv:UnspecifiedMatching OMIM:612966 RAB22A skos:exactMatch hgnc.symbol:RAB22A semapv:UnspecifiedMatching OMIM:612966 RAB22A skos:exactMatch ncbigene:57403 semapv:UnspecifiedMatching +OMIM:612967 body mass index quantitative trait locus 15 skos:exactMatch hgnc.symbol:BMIQ15 semapv:UnspecifiedMatching OMIM:612968 cataract 34, multiple types skos:exactMatch MONDO:0013067 semapv:UnspecifiedMatching OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:18331 semapv:UnspecifiedMatching OMIM:612969 TIGD7 skos:exactMatch hgnc.symbol:TIGD7 semapv:UnspecifiedMatching @@ -62673,6 +63562,7 @@ OMIM:612974 DEPDC6 skos:exactMatch ncbigene:64798 semapv:UnspecifiedMatching OMIM:612975 short sleep, familial natural, 1 skos:exactMatch MONDO:0020784 semapv:UnspecifiedMatching OMIM:612975 short sleep, familial natural, 1 skos:exactMatch UMLS:C5200932 semapv:UnspecifiedMatching OMIM:612976 age-related hearing impairment 2 skos:exactMatch MONDO:0013068 semapv:UnspecifiedMatching +OMIM:612976 age-related hearing impairment 2 skos:exactMatch hgnc.symbol:ARHI2 semapv:UnspecifiedMatching OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:28998 semapv:UnspecifiedMatching OMIM:612977 DCUN1D4 skos:exactMatch hgnc.symbol:DCUN1D4 semapv:UnspecifiedMatching OMIM:612977 DCUN1D4 skos:exactMatch ncbigene:23142 semapv:UnspecifiedMatching @@ -62764,8 +63654,11 @@ OMIM:613004 HTT skos:exactMatch ncbigene:3064 semapv:UnspecifiedMatching OMIM:613005 santos syndrome skos:exactMatch MONDO:0013077 semapv:UnspecifiedMatching OMIM:613006 type 1 diabetes mellitus 24 skos:exactMatch MONDO:0013078 semapv:UnspecifiedMatching OMIM:613006 type 1 diabetes mellitus 24 skos:exactMatch UMLS:C2751697 semapv:UnspecifiedMatching +OMIM:613006 type 1 diabetes mellitus 24 skos:exactMatch hgnc.symbol:IDDM24 semapv:UnspecifiedMatching OMIM:613007 biliary cirrhosis, primary, 2 skos:exactMatch MONDO:0013079 semapv:UnspecifiedMatching +OMIM:613007 biliary cirrhosis, primary, 2 skos:exactMatch hgnc.symbol:PBC2 semapv:UnspecifiedMatching OMIM:613008 biliary cirrhosis, primary, 3 skos:exactMatch MONDO:0013080 semapv:UnspecifiedMatching +OMIM:613008 biliary cirrhosis, primary, 3 skos:exactMatch hgnc.symbol:PBC3 semapv:UnspecifiedMatching OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:30605 semapv:UnspecifiedMatching OMIM:613009 SEPSECS skos:exactMatch hgnc.symbol:SEPSECS semapv:UnspecifiedMatching OMIM:613009 SEPSECS skos:exactMatch ncbigene:51091 semapv:UnspecifiedMatching @@ -62779,8 +63672,11 @@ OMIM:613012 UROC1 skos:exactMatch ncbigene:131669 semapv:UnspecifiedMatching OMIM:613013 neuroblastoma, susceptibility to, 2 skos:exactMatch MONDO:0700041 semapv:UnspecifiedMatching OMIM:613014 neuroblastoma, susceptibility to, 3 skos:exactMatch MONDO:0013083 semapv:UnspecifiedMatching OMIM:613015 neuroblastoma, susceptibility to, 4 skos:exactMatch MONDO:0013084 semapv:UnspecifiedMatching +OMIM:613015 neuroblastoma, susceptibility to, 4 skos:exactMatch hgnc.symbol:NBLST4 semapv:UnspecifiedMatching OMIM:613016 neuroblastoma, susceptibility to, 5 skos:exactMatch MONDO:0013085 semapv:UnspecifiedMatching +OMIM:613016 neuroblastoma, susceptibility to, 5 skos:exactMatch hgnc.symbol:NBLST5 semapv:UnspecifiedMatching OMIM:613017 neuroblastoma, susceptibility to, 6 skos:exactMatch MONDO:0013086 semapv:UnspecifiedMatching +OMIM:613017 neuroblastoma, susceptibility to, 6 skos:exactMatch hgnc.symbol:NBLST6 semapv:UnspecifiedMatching OMIM:613018 TAT skos:exactMatch UMLS:C0268487 semapv:UnspecifiedMatching OMIM:613018 TAT skos:exactMatch UMLS:C1420590 semapv:UnspecifiedMatching OMIM:613018 TAT skos:exactMatch hgnc.symbol:11573 semapv:UnspecifiedMatching @@ -62797,15 +63693,20 @@ OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:28920 semapv:UnspecifiedMatching OMIM:613023 CEP170 skos:exactMatch hgnc.symbol:CEP170 semapv:UnspecifiedMatching OMIM:613023 CEP170 skos:exactMatch ncbigene:9859 semapv:UnspecifiedMatching OMIM:613024 follicular lymphoma, susceptibility to, 1 skos:exactMatch MONDO:0013088 semapv:UnspecifiedMatching +OMIM:613024 follicular lymphoma, susceptibility to, 1 skos:exactMatch hgnc.symbol:FL1 semapv:UnspecifiedMatching OMIM:613025 schizophrenia 13 skos:exactMatch MONDO:0013089 semapv:UnspecifiedMatching +OMIM:613025 schizophrenia 13 skos:exactMatch hgnc.symbol:SCZD13 semapv:UnspecifiedMatching OMIM:613026 chromosome 19q13.11 deletion syndrome, distal skos:exactMatch MONDO:0700107 semapv:UnspecifiedMatching OMIM:613027 glycogen storage disease ixc skos:exactMatch MONDO:0013091 semapv:UnspecifiedMatching OMIM:613028 glioma susceptibility 2 skos:exactMatch MONDO:0013092 semapv:UnspecifiedMatching OMIM:613029 glioma susceptibility 3 skos:exactMatch MONDO:0013093 semapv:UnspecifiedMatching OMIM:613030 glioma susceptibility 5 skos:exactMatch MONDO:0013094 semapv:UnspecifiedMatching +OMIM:613030 glioma susceptibility 5 skos:exactMatch hgnc.symbol:GLM5 semapv:UnspecifiedMatching OMIM:613031 glioma susceptibility 6 skos:exactMatch MONDO:0013095 semapv:UnspecifiedMatching +OMIM:613031 glioma susceptibility 6 skos:exactMatch hgnc.symbol:GLM6 semapv:UnspecifiedMatching OMIM:613032 glioma susceptibility 7 skos:exactMatch MONDO:0013096 semapv:UnspecifiedMatching OMIM:613033 glioma susceptibility 8 skos:exactMatch MONDO:0013097 semapv:UnspecifiedMatching +OMIM:613033 glioma susceptibility 8 skos:exactMatch hgnc.symbol:GLM8 semapv:UnspecifiedMatching OMIM:613035 hearing loss, noise-induced, susceptibility to skos:exactMatch MONDO:0957560 semapv:UnspecifiedMatching OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:18667 semapv:UnspecifiedMatching OMIM:613036 PMPCA skos:exactMatch hgnc.symbol:PMPCA semapv:UnspecifiedMatching @@ -62865,17 +63766,25 @@ OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:31611 semapv:UnspecifiedMatchin OMIM:613057 MIR26A2 skos:exactMatch hgnc.symbol:MIR26A2 semapv:UnspecifiedMatching OMIM:613057 MIR26A2 skos:exactMatch ncbigene:407016 semapv:UnspecifiedMatching OMIM:613058 basal cell carcinoma, susceptibility to, 2 skos:exactMatch MONDO:0013101 semapv:UnspecifiedMatching +OMIM:613058 basal cell carcinoma, susceptibility to, 2 skos:exactMatch hgnc.symbol:BCC2 semapv:UnspecifiedMatching OMIM:613059 basal cell carcinoma, susceptibility to, 3 skos:exactMatch MONDO:0013102 semapv:UnspecifiedMatching +OMIM:613059 basal cell carcinoma, susceptibility to, 3 skos:exactMatch hgnc.symbol:BCC3 semapv:UnspecifiedMatching OMIM:613060 epilepsy, idiopathic generalized, susceptibility to, 10 skos:exactMatch MONDO:0013103 semapv:UnspecifiedMatching OMIM:613061 basal cell carcinoma, susceptibility to, 4 skos:exactMatch MONDO:0013104 semapv:UnspecifiedMatching +OMIM:613061 basal cell carcinoma, susceptibility to, 4 skos:exactMatch hgnc.symbol:BCC4 semapv:UnspecifiedMatching OMIM:613062 basal cell carcinoma, susceptibility to, 5 skos:exactMatch MONDO:0013105 semapv:UnspecifiedMatching +OMIM:613062 basal cell carcinoma, susceptibility to, 5 skos:exactMatch hgnc.symbol:BCC5 semapv:UnspecifiedMatching OMIM:613063 basal cell carcinoma, susceptibility to, 6 skos:exactMatch MONDO:0013106 semapv:UnspecifiedMatching +OMIM:613063 basal cell carcinoma, susceptibility to, 6 skos:exactMatch hgnc.symbol:BCC6 semapv:UnspecifiedMatching OMIM:613064 dermatitis, atopic, 7 skos:exactMatch MONDO:0013107 semapv:UnspecifiedMatching +OMIM:613064 dermatitis, atopic, 7 skos:exactMatch hgnc.symbol:ATOD7 semapv:UnspecifiedMatching OMIM:613065 leukemia, acute lymphoblastic skos:exactMatch MONDO:0013108 semapv:UnspecifiedMatching +OMIM:613065 leukemia, acute lymphoblastic skos:exactMatch hgnc.symbol:ALL1 semapv:UnspecifiedMatching OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:16714 semapv:UnspecifiedMatching OMIM:613066 PKNOX2 skos:exactMatch hgnc.symbol:PKNOX2 semapv:UnspecifiedMatching OMIM:613066 PKNOX2 skos:exactMatch ncbigene:63876 semapv:UnspecifiedMatching OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 skos:exactMatch MONDO:0013109 semapv:UnspecifiedMatching +OMIM:613067 leukemia, acute lymphoblastic, susceptibility to, 2 skos:exactMatch hgnc.symbol:ALL2 semapv:UnspecifiedMatching OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch MONDO:0013110 semapv:UnspecifiedMatching OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch Orphanet:217382 semapv:UnspecifiedMatching OMIM:613068 neurodegeneration due to cerebral folate transport deficiency skos:exactMatch UMLS:C2751584 semapv:UnspecifiedMatching @@ -62915,9 +63824,11 @@ OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:7623 semapv:UnspecifiedMatching OMIM:613084 MYT1L skos:exactMatch hgnc.symbol:MYT1L semapv:UnspecifiedMatching OMIM:613084 MYT1L skos:exactMatch ncbigene:23040 semapv:UnspecifiedMatching OMIM:613085 glaucoma 3, primary congenital, c skos:exactMatch MONDO:0013121 semapv:UnspecifiedMatching +OMIM:613085 glaucoma 3, primary congenital, c skos:exactMatch hgnc.symbol:GLC3C semapv:UnspecifiedMatching OMIM:613086 glaucoma 3, primary congenital, d skos:exactMatch MONDO:0013122 semapv:UnspecifiedMatching OMIM:613087 atrial septal defect 6 skos:exactMatch MONDO:0013123 semapv:UnspecifiedMatching OMIM:613088 pelvic organ prolapse, susceptibility to, 2 skos:exactMatch MONDO:0013124 semapv:UnspecifiedMatching +OMIM:613088 pelvic organ prolapse, susceptibility to, 2 skos:exactMatch hgnc.symbol:PVOP2 semapv:UnspecifiedMatching OMIM:613089 capillary malformation of the lower lip, lymphatic malformation of face and neck, asymmetry of face and limbs, and partial/generalized overgrowth skos:exactMatch MONDO:0013125 semapv:UnspecifiedMatching OMIM:613090 bartter syndrome, type 4b, neonatal, with sensorineural deafness skos:exactMatch MONDO:0000909 semapv:UnspecifiedMatching OMIM:613091 short-rib thoracic dysplasia 3 with or without polydactyly skos:exactMatch MONDO:0013127 semapv:UnspecifiedMatching @@ -62926,6 +63837,7 @@ OMIM:613093 cone dystrophy 4 skos:exactMatch MONDO:0013129 semapv:UnspecifiedMa OMIM:613094 microphthalmia, isolated 4 skos:exactMatch MONDO:0013130 semapv:UnspecifiedMatching OMIM:613095 polycystic kidney disease 2 with or without polycystic liver disease skos:exactMatch MONDO:0013131 semapv:UnspecifiedMatching OMIM:613096 spastic paraplegia 36, autosomal dominant skos:exactMatch MONDO:0013132 semapv:UnspecifiedMatching +OMIM:613096 spastic paraplegia 36, autosomal dominant skos:exactMatch hgnc.symbol:SPG36 semapv:UnspecifiedMatching OMIM:613099 melanoma, cutaneous malignant, susceptibility to, 5 skos:exactMatch MONDO:0013133 semapv:UnspecifiedMatching OMIM:613100 glaucoma 1, open angle, o skos:exactMatch MONDO:0013134 semapv:UnspecifiedMatching OMIM:613101 hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease skos:exactMatch MONDO:0013135 semapv:UnspecifiedMatching @@ -62940,6 +63852,7 @@ OMIM:613104 CACFD1 skos:exactMatch hgnc.symbol:CACFD1 semapv:UnspecifiedMatchin OMIM:613104 CACFD1 skos:exactMatch ncbigene:11094 semapv:UnspecifiedMatching OMIM:613105 choroidal dystrophy, central areolar 2 skos:exactMatch MONDO:0013137 semapv:UnspecifiedMatching OMIM:613106 vertigo, benign recurrent, 2 skos:exactMatch MONDO:0013138 semapv:UnspecifiedMatching +OMIM:613106 vertigo, benign recurrent, 2 skos:exactMatch hgnc.symbol:BRV2 semapv:UnspecifiedMatching OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch MONDO:0013139 semapv:UnspecifiedMatching OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch Orphanet:486 semapv:UnspecifiedMatching OMIM:613107 neutropenia, severe congenital, 2, autosomal dominant skos:exactMatch UMLS:C2751288 semapv:UnspecifiedMatching @@ -63045,7 +63958,9 @@ OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:30323 semapv:UnspecifiedMatching OMIM:613143 DTX3L skos:exactMatch hgnc.symbol:DTX3L semapv:UnspecifiedMatching OMIM:613143 DTX3L skos:exactMatch ncbigene:151636 semapv:UnspecifiedMatching OMIM:613144 choroidal dystrophy, central areolar, 3 skos:exactMatch MONDO:0013151 semapv:UnspecifiedMatching +OMIM:613144 choroidal dystrophy, central areolar, 3 skos:exactMatch hgnc.symbol:CACD3 semapv:UnspecifiedMatching OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch MONDO:0013152 semapv:UnspecifiedMatching +OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 skos:exactMatch hgnc.symbol:SLEB14 semapv:UnspecifiedMatching OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:31555 semapv:UnspecifiedMatching OMIM:613146 MIR184 skos:exactMatch hgnc.symbol:MIR184 semapv:UnspecifiedMatching OMIM:613146 MIR184 skos:exactMatch ncbigene:406960 semapv:UnspecifiedMatching @@ -63096,6 +64011,7 @@ OMIM:613161 beta-ureidopropionase deficiency skos:exactMatch MONDO:0013164 sema OMIM:613162 spastic paraplegia 45, autosomal recessive skos:exactMatch MONDO:0013165 semapv:UnspecifiedMatching OMIM:613163 gaba-transaminase deficiency skos:exactMatch MONDO:0013166 semapv:UnspecifiedMatching OMIM:613164 parkinson disease 16 skos:exactMatch MONDO:0013167 semapv:UnspecifiedMatching +OMIM:613164 parkinson disease 16 skos:exactMatch hgnc.symbol:PARK16 semapv:UnspecifiedMatching OMIM:613165 CANT1 skos:exactMatch UMLS:C1538435 semapv:UnspecifiedMatching OMIM:613165 CANT1 skos:exactMatch UMLS:C4012146 semapv:UnspecifiedMatching OMIM:613165 CANT1 skos:exactMatch UMLS:C4017299 semapv:UnspecifiedMatching @@ -63210,6 +64126,7 @@ OMIM:613204 muscular dystrophy, congenital, due to integrin alpha-7 deficiency s OMIM:613205 muscular dystrophy, congenital, lmna-related skos:exactMatch MONDO:0013178 semapv:UnspecifiedMatching OMIM:613206 spastic paraplegia 44, autosomal recessive skos:exactMatch MONDO:0013179 semapv:UnspecifiedMatching OMIM:613207 asthma-related traits, susceptibility to, 8 skos:exactMatch MONDO:0013180 semapv:UnspecifiedMatching +OMIM:613207 asthma-related traits, susceptibility to, 8 skos:exactMatch hgnc.symbol:ASRT8 semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch UMLS:C1421540 semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch UMLS:C2752147 semapv:UnspecifiedMatching OMIM:613208 XPC skos:exactMatch hgnc.symbol:12816 semapv:UnspecifiedMatching @@ -63239,6 +64156,7 @@ OMIM:613218 CYB5A skos:exactMatch hgnc.symbol:CYB5A semapv:UnspecifiedMatching OMIM:613218 CYB5A skos:exactMatch ncbigene:1528 semapv:UnspecifiedMatching OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch UMLS:C2750735 semapv:UnspecifiedMatching OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch UMLS:C3150459 semapv:UnspecifiedMatching +OMIM:613219 fasting plasma glucose level quantitative trait locus 2 skos:exactMatch hgnc.symbol:FGQTL2 semapv:UnspecifiedMatching OMIM:613220 TMEM18 skos:exactMatch hgnc.symbol:25257 semapv:UnspecifiedMatching OMIM:613220 TMEM18 skos:exactMatch hgnc.symbol:TMEM18 semapv:UnspecifiedMatching OMIM:613220 TMEM18 skos:exactMatch ncbigene:129787 semapv:UnspecifiedMatching @@ -63268,6 +64186,7 @@ OMIM:613231 KIF26A skos:exactMatch ncbigene:26153 semapv:UnspecifiedMatching OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:28117 semapv:UnspecifiedMatching OMIM:613232 RBM42 skos:exactMatch hgnc.symbol:RBM42 semapv:UnspecifiedMatching OMIM:613232 RBM42 skos:exactMatch ncbigene:79171 semapv:UnspecifiedMatching +OMIM:613233 fasting plasma glucose level quantitative trait locus 3 skos:exactMatch hgnc.symbol:FGQTL3 semapv:UnspecifiedMatching OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:29260 semapv:UnspecifiedMatching OMIM:613234 NCEH1 skos:exactMatch hgnc.symbol:NCEH1 semapv:UnspecifiedMatching OMIM:613234 NCEH1 skos:exactMatch ncbigene:57552 semapv:UnspecifiedMatching @@ -63277,6 +64196,7 @@ OMIM:613236 KCNJ18 skos:exactMatch hgnc.symbol:KCNJ18 semapv:UnspecifiedMatchin OMIM:613236 KCNJ18 skos:exactMatch ncbigene:100134444 semapv:UnspecifiedMatching OMIM:613237 focal segmental glomerulosclerosis 5 skos:exactMatch MONDO:0013191 semapv:UnspecifiedMatching OMIM:613238 spondyloarthropathy, susceptibility to, 3 skos:exactMatch MONDO:0013192 semapv:UnspecifiedMatching +OMIM:613238 spondyloarthropathy, susceptibility to, 3 skos:exactMatch hgnc.symbol:SPDA3 semapv:UnspecifiedMatching OMIM:613239 thyrotoxic periodic paralysis, susceptibility to, 2 skos:exactMatch MONDO:0013193 semapv:UnspecifiedMatching OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:14940 semapv:UnspecifiedMatching OMIM:613240 PPP1R1C skos:exactMatch hgnc.symbol:PPP1R1C semapv:UnspecifiedMatching @@ -63341,8 +64261,10 @@ OMIM:613266 waardenburg syndrome, type 4c skos:exactMatch MONDO:0013202 semapv: OMIM:613267 corneal dystrophy, fuchs endothelial, 3 skos:exactMatch MONDO:0013203 semapv:UnspecifiedMatching OMIM:613268 corneal dystrophy, fuchs endothelial, 4 skos:exactMatch MONDO:0013204 semapv:UnspecifiedMatching OMIM:613269 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch MONDO:0013205 semapv:UnspecifiedMatching +OMIM:613269 corneal dystrophy, fuchs endothelial, 5 skos:exactMatch hgnc.symbol:FECD5 semapv:UnspecifiedMatching OMIM:613270 corneal dystrophy, fuchs endothelial, 6 skos:exactMatch MONDO:0013206 semapv:UnspecifiedMatching OMIM:613271 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch MONDO:0013207 semapv:UnspecifiedMatching +OMIM:613271 corneal dystrophy, fuchs endothelial, 7 skos:exactMatch hgnc.symbol:FECD7 semapv:UnspecifiedMatching OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:21305 semapv:UnspecifiedMatching OMIM:613272 KCTD3 skos:exactMatch hgnc.symbol:KCTD3 semapv:UnspecifiedMatching OMIM:613272 KCTD3 skos:exactMatch ncbigene:51133 semapv:UnspecifiedMatching @@ -63374,9 +64296,11 @@ OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:30390 semapv:UnspecifiedMatching OMIM:613281 SNX20 skos:exactMatch hgnc.symbol:SNX20 semapv:UnspecifiedMatching OMIM:613281 SNX20 skos:exactMatch ncbigene:124460 semapv:UnspecifiedMatching OMIM:613282 fatty liver disease, susceptibility to, 1 skos:exactMatch MONDO:0021105 semapv:UnspecifiedMatching +OMIM:613282 fatty liver disease, susceptibility to, 1 skos:exactMatch hgnc.symbol:NAFLD1 semapv:UnspecifiedMatching OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:31673 semapv:UnspecifiedMatching OMIM:613283 GRXCR1 skos:exactMatch hgnc.symbol:GRXCR1 semapv:UnspecifiedMatching OMIM:613283 GRXCR1 skos:exactMatch ncbigene:389207 semapv:UnspecifiedMatching +OMIM:613284 hematocrit/hemoglobin quantitative trait locus 3 skos:exactMatch hgnc.symbol:HCHGQ3 semapv:UnspecifiedMatching OMIM:613285 deafness, autosomal recessive 25 skos:exactMatch MONDO:0013210 semapv:UnspecifiedMatching OMIM:613286 cardiomyopathy, dilated, 1ff skos:exactMatch MONDO:0013211 semapv:UnspecifiedMatching OMIM:613287 charcot-marie-tooth disease, axonal, type 2n skos:exactMatch MONDO:0013212 semapv:UnspecifiedMatching @@ -63387,6 +64311,7 @@ OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:32925 semapv:UnspecifiedMatching OMIM:613289 ATXN8 skos:exactMatch hgnc.symbol:ATXN8 semapv:UnspecifiedMatching OMIM:613289 ATXN8 skos:exactMatch ncbigene:724066 semapv:UnspecifiedMatching OMIM:613290 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch MONDO:0013213 semapv:UnspecifiedMatching +OMIM:613290 hearing loss, cisplatin-induced, susceptibility to skos:exactMatch hgnc.symbol:CIHL semapv:UnspecifiedMatching OMIM:613291 bile acid malabsorption, primary, 1 skos:exactMatch MONDO:0013214 semapv:UnspecifiedMatching OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:28404 semapv:UnspecifiedMatching OMIM:613292 DENND1B skos:exactMatch hgnc.symbol:DENND1B semapv:UnspecifiedMatching @@ -63456,6 +64381,8 @@ OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:20258 semapv:UnspecifiedMatching OMIM:613317 DCAF11 skos:exactMatch hgnc.symbol:DCAF11 semapv:UnspecifiedMatching OMIM:613317 DCAF11 skos:exactMatch ncbigene:80344 semapv:UnspecifiedMatching OMIM:613318 miyoshi muscular dystrophy 2 skos:exactMatch MONDO:0013221 semapv:UnspecifiedMatching +OMIM:613318 miyoshi muscular dystrophy 2 skos:exactMatch hgnc.symbol:30133 semapv:UnspecifiedMatching +OMIM:613318 miyoshi muscular dystrophy 2 skos:exactMatch hgnc.symbol:MMD2 semapv:UnspecifiedMatching OMIM:613319 miyoshi muscular dystrophy 3 skos:exactMatch MONDO:0013222 semapv:UnspecifiedMatching OMIM:613320 spondylometaphyseal dysplasia, megarbane-dagher-melki type skos:exactMatch MONDO:0013223 semapv:UnspecifiedMatching OMIM:613321 GXYLT1 skos:exactMatch hgnc.symbol:27482 semapv:UnspecifiedMatching @@ -63505,7 +64432,9 @@ OMIM:613338 MARCHF11 skos:exactMatch hgnc.symbol:33609 semapv:UnspecifiedMatchi OMIM:613338 MARCHF11 skos:exactMatch hgnc.symbol:MARCHF11 semapv:UnspecifiedMatching OMIM:613338 MARCHF11 skos:exactMatch ncbigene:441061 semapv:UnspecifiedMatching OMIM:613339 epilepsy, hot water, 1 skos:exactMatch MONDO:0024508 semapv:UnspecifiedMatching +OMIM:613339 epilepsy, hot water, 1 skos:exactMatch hgnc.symbol:HWE1 semapv:UnspecifiedMatching OMIM:613340 epilepsy, hot water, 2 skos:exactMatch MONDO:0013230 semapv:UnspecifiedMatching +OMIM:613340 epilepsy, hot water, 2 skos:exactMatch hgnc.symbol:HWE2 semapv:UnspecifiedMatching OMIM:613341 leber congenital amaurosis 14 skos:exactMatch MONDO:0013231 semapv:UnspecifiedMatching OMIM:613342 mseleni joint disease skos:exactMatch MONDO:0013232 semapv:UnspecifiedMatching OMIM:613343 handigodu joint disease skos:exactMatch MONDO:0013233 semapv:UnspecifiedMatching @@ -63565,6 +64494,7 @@ OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:28296 semapv:UnspecifiedMatching OMIM:613363 WDR34 skos:exactMatch hgnc.symbol:DYNC2I2 semapv:UnspecifiedMatching OMIM:613363 WDR34 skos:exactMatch ncbigene:89891 semapv:UnspecifiedMatching OMIM:613364 spastic paraplegia 41, autosomal dominant skos:exactMatch MONDO:0013239 semapv:UnspecifiedMatching +OMIM:613364 spastic paraplegia 41, autosomal dominant skos:exactMatch hgnc.symbol:SPG41 semapv:UnspecifiedMatching OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:23613 semapv:UnspecifiedMatching OMIM:613365 SLCO6A1 skos:exactMatch hgnc.symbol:SLCO6A1 semapv:UnspecifiedMatching OMIM:613365 SLCO6A1 skos:exactMatch ncbigene:133482 semapv:UnspecifiedMatching @@ -63583,6 +64513,7 @@ OMIM:613369 DDX42 skos:exactMatch hgnc.symbol:DDX42 semapv:UnspecifiedMatching OMIM:613369 DDX42 skos:exactMatch ncbigene:11325 semapv:UnspecifiedMatching OMIM:613370 maturity-onset diabetes of the young, type 10 skos:exactMatch MONDO:0013240 semapv:UnspecifiedMatching OMIM:613371 spinocerebellar ataxia 30 skos:exactMatch MONDO:0013241 semapv:UnspecifiedMatching +OMIM:613371 spinocerebellar ataxia 30 skos:exactMatch hgnc.symbol:SCA30 semapv:UnspecifiedMatching OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:23039 semapv:UnspecifiedMatching OMIM:613372 UFL1 skos:exactMatch hgnc.symbol:UFL1 semapv:UnspecifiedMatching OMIM:613372 UFL1 skos:exactMatch ncbigene:23376 semapv:UnspecifiedMatching @@ -63626,6 +64557,7 @@ OMIM:613386 POMP skos:exactMatch hgnc.symbol:20330 semapv:UnspecifiedMatching OMIM:613386 POMP skos:exactMatch hgnc.symbol:POMP semapv:UnspecifiedMatching OMIM:613386 POMP skos:exactMatch ncbigene:51371 semapv:UnspecifiedMatching OMIM:613387 fatty liver disease, susceptibility to, 2 skos:exactMatch MONDO:0013246 semapv:UnspecifiedMatching +OMIM:613387 fatty liver disease, susceptibility to, 2 skos:exactMatch hgnc.symbol:NAFLD2 semapv:UnspecifiedMatching OMIM:613388 fanconi renotubular syndrome 2 skos:exactMatch MONDO:0013247 semapv:UnspecifiedMatching OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:13819 semapv:UnspecifiedMatching OMIM:613389 SLCO1C1 skos:exactMatch hgnc.symbol:SLCO1C1 semapv:UnspecifiedMatching @@ -63633,6 +64565,7 @@ OMIM:613389 SLCO1C1 skos:exactMatch ncbigene:53919 semapv:UnspecifiedMatching OMIM:613390 fanconi anemia, complementation group o skos:exactMatch MONDO:0013248 semapv:UnspecifiedMatching OMIM:613391 deafness, autosomal recessive 84a skos:exactMatch MONDO:0013249 semapv:UnspecifiedMatching OMIM:613392 deafness, autosomal recessive 85 skos:exactMatch MONDO:0013250 semapv:UnspecifiedMatching +OMIM:613392 deafness, autosomal recessive 85 skos:exactMatch hgnc.symbol:DFNB85 semapv:UnspecifiedMatching OMIM:613393 birbeck granule deficiency skos:exactMatch MONDO:0013251 semapv:UnspecifiedMatching OMIM:613394 MIR138-1 skos:exactMatch UMLS:C1537791 semapv:UnspecifiedMatching OMIM:613394 MIR138-1 skos:exactMatch hgnc.symbol:31524 semapv:UnspecifiedMatching @@ -63671,6 +64604,7 @@ OMIM:613405 MIR2861 skos:exactMatch hgnc.symbol:MIR2861 semapv:UnspecifiedMatch OMIM:613405 MIR2861 skos:exactMatch ncbigene:100422910 semapv:UnspecifiedMatching OMIM:613406 witteveen-kolk syndrome skos:exactMatch MONDO:0013256 semapv:UnspecifiedMatching OMIM:613407 leprosy, susceptibility to, 6 skos:exactMatch MONDO:0013257 semapv:UnspecifiedMatching +OMIM:613407 leprosy, susceptibility to, 6 skos:exactMatch hgnc.symbol:LPRS6 semapv:UnspecifiedMatching OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:26478 semapv:UnspecifiedMatching OMIM:613408 CCDC122 skos:exactMatch hgnc.symbol:CCDC122 semapv:UnspecifiedMatching OMIM:613408 CCDC122 skos:exactMatch ncbigene:160857 semapv:UnspecifiedMatching @@ -63682,6 +64616,7 @@ OMIM:613409 LACC1 skos:exactMatch ncbigene:144811 semapv:UnspecifiedMatching OMIM:613410 autism, susceptibility to, 16 skos:exactMatch MONDO:0013258 semapv:UnspecifiedMatching OMIM:613411 oguchi disease 2 skos:exactMatch MONDO:0013259 semapv:UnspecifiedMatching OMIM:613412 esophagitis, eosinophilic, 2 skos:exactMatch MONDO:0013260 semapv:UnspecifiedMatching +OMIM:613412 esophagitis, eosinophilic, 2 skos:exactMatch hgnc.symbol:EOE2 semapv:UnspecifiedMatching OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:22407 semapv:UnspecifiedMatching OMIM:613413 TMEM106B skos:exactMatch hgnc.symbol:TMEM106B semapv:UnspecifiedMatching OMIM:613413 TMEM106B skos:exactMatch ncbigene:54664 semapv:UnspecifiedMatching @@ -63753,6 +64688,7 @@ OMIM:613438 FCHO2 skos:exactMatch ncbigene:115548 semapv:UnspecifiedMatching OMIM:613439 CNST skos:exactMatch hgnc.symbol:26486 semapv:UnspecifiedMatching OMIM:613439 CNST skos:exactMatch hgnc.symbol:CNST semapv:UnspecifiedMatching OMIM:613439 CNST skos:exactMatch ncbigene:163882 semapv:UnspecifiedMatching +OMIM:613440 stature quantitative trait locus 21 skos:exactMatch hgnc.symbol:STQTL21 semapv:UnspecifiedMatching OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:11653 semapv:UnspecifiedMatching OMIM:613441 TCN2 skos:exactMatch hgnc.symbol:TCN2 semapv:UnspecifiedMatching OMIM:613441 TCN2 skos:exactMatch ncbigene:6948 semapv:UnspecifiedMatching @@ -63792,9 +64728,12 @@ OMIM:613456 frontonasal dysplasia 3 skos:exactMatch Orphanet:306542 semapv:Unsp OMIM:613456 frontonasal dysplasia 3 skos:exactMatch UMLS:C3150706 semapv:UnspecifiedMatching OMIM:613457 chromosome 14q11-q22 deletion syndrome skos:exactMatch MONDO:0013272 semapv:UnspecifiedMatching OMIM:613458 chromosome 16p13.3 duplication syndrome skos:exactMatch MONDO:0013273 semapv:UnspecifiedMatching +OMIM:613459 birth weight quantitative trait locus 2 skos:exactMatch hgnc.symbol:BWQTL2 semapv:UnspecifiedMatching +OMIM:613460 fasting plasma glucose level quantitative trait locus 6 skos:exactMatch hgnc.symbol:FGQTL6 semapv:UnspecifiedMatching OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:29477 semapv:UnspecifiedMatching OMIM:613461 LEPROT skos:exactMatch hgnc.symbol:LEPROT semapv:UnspecifiedMatching OMIM:613461 LEPROT skos:exactMatch ncbigene:54741 semapv:UnspecifiedMatching +OMIM:613462 fasting plasma glucose level quantitative trait locus 4 skos:exactMatch hgnc.symbol:FGQTL4 semapv:UnspecifiedMatching OMIM:613464 retinitis pigmentosa 51 skos:exactMatch MONDO:0013274 semapv:UnspecifiedMatching OMIM:613465 NME7 skos:exactMatch hgnc.symbol:20461 semapv:UnspecifiedMatching OMIM:613465 NME7 skos:exactMatch hgnc.symbol:NME7 semapv:UnspecifiedMatching @@ -63879,6 +64818,7 @@ OMIM:613496 immunodeficiency, common variable, 6 skos:exactMatch MONDO:0013286 OMIM:613497 LIPA skos:exactMatch hgnc.symbol:6617 semapv:UnspecifiedMatching OMIM:613497 LIPA skos:exactMatch hgnc.symbol:LIPA semapv:UnspecifiedMatching OMIM:613497 LIPA skos:exactMatch ncbigene:3988 semapv:UnspecifiedMatching +OMIM:613498 sex hormone-binding globulin circulating level quantitative trait locus skos:exactMatch hgnc.symbol:SXGQTL1 semapv:UnspecifiedMatching OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:18729 semapv:UnspecifiedMatching OMIM:613499 HIST1H2AA skos:exactMatch hgnc.symbol:H2AC1 semapv:UnspecifiedMatching OMIM:613499 HIST1H2AA skos:exactMatch ncbigene:221613 semapv:UnspecifiedMatching @@ -63928,7 +64868,9 @@ OMIM:613516 RUBCN skos:exactMatch hgnc.symbol:RUBCN semapv:UnspecifiedMatching OMIM:613516 RUBCN skos:exactMatch ncbigene:9711 semapv:UnspecifiedMatching OMIM:613517 microphthalmia, isolated 6 skos:exactMatch MONDO:0013293 semapv:UnspecifiedMatching OMIM:613518 dermatitis, atopic, 8 skos:exactMatch MONDO:0013294 semapv:UnspecifiedMatching +OMIM:613518 dermatitis, atopic, 8 skos:exactMatch hgnc.symbol:ATOD8 semapv:UnspecifiedMatching OMIM:613519 dermatitis, atopic, 9 skos:exactMatch MONDO:0013295 semapv:UnspecifiedMatching +OMIM:613519 dermatitis, atopic, 9 skos:exactMatch hgnc.symbol:ATOD9 semapv:UnspecifiedMatching OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:21740 semapv:UnspecifiedMatching OMIM:613520 FGD6 skos:exactMatch hgnc.symbol:FGD6 semapv:UnspecifiedMatching OMIM:613520 FGD6 skos:exactMatch ncbigene:55785 semapv:UnspecifiedMatching @@ -63958,6 +64900,7 @@ OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:29298 semapv:UnspecifiedMatching OMIM:613529 CEP152 skos:exactMatch hgnc.symbol:CEP152 semapv:UnspecifiedMatching OMIM:613529 CEP152 skos:exactMatch ncbigene:22995 semapv:UnspecifiedMatching OMIM:613530 muscular dystrophy, limb-girdle, type 1h skos:exactMatch MONDO:0013297 semapv:UnspecifiedMatching +OMIM:613530 muscular dystrophy, limb-girdle, type 1h skos:exactMatch hgnc.symbol:LGMD1H semapv:UnspecifiedMatching OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:9589 semapv:UnspecifiedMatching OMIM:613531 PTENP1 skos:exactMatch hgnc.symbol:PTENP1 semapv:UnspecifiedMatching OMIM:613531 PTENP1 skos:exactMatch ncbigene:11191 semapv:UnspecifiedMatching @@ -64000,7 +64943,11 @@ OMIM:613543 SLCO5A1 skos:exactMatch hgnc.symbol:SLCO5A1 semapv:UnspecifiedMatch OMIM:613543 SLCO5A1 skos:exactMatch ncbigene:81796 semapv:UnspecifiedMatching OMIM:613544 chromosome 6q11-q14 deletion syndrome skos:exactMatch MONDO:0013299 semapv:UnspecifiedMatching OMIM:613545 macrostomia, isolated skos:exactMatch MONDO:0013300 semapv:UnspecifiedMatching +OMIM:613545 macrostomia, isolated skos:exactMatch hgnc.symbol:MACST semapv:UnspecifiedMatching OMIM:613546 aromatase deficiency skos:exactMatch MONDO:0013301 semapv:UnspecifiedMatching +OMIM:613547 stature quantitative trait locus 22 skos:exactMatch hgnc.symbol:STQTL22 semapv:UnspecifiedMatching +OMIM:613548 stature quantitative trait locus 23 skos:exactMatch hgnc.symbol:STQTL23 semapv:UnspecifiedMatching +OMIM:613549 stature quantitative trait locus 24 skos:exactMatch hgnc.symbol:STQTL24 semapv:UnspecifiedMatching OMIM:613550 nephronophthisis 11 skos:exactMatch MONDO:0013302 semapv:UnspecifiedMatching OMIM:613550 nephronophthisis 11 skos:exactMatch Orphanet:84081 semapv:UnspecifiedMatching OMIM:613550 nephronophthisis 11 skos:exactMatch UMLS:C3150796 semapv:UnspecifiedMatching @@ -64059,6 +65006,7 @@ OMIM:613575 retinitis pigmentosa 55 skos:exactMatch MONDO:0013312 semapv:Unspec OMIM:613575 retinitis pigmentosa 55 skos:exactMatch Orphanet:791 semapv:UnspecifiedMatching OMIM:613575 retinitis pigmentosa 55 skos:exactMatch UMLS:C3150808 semapv:UnspecifiedMatching OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 skos:exactMatch MONDO:0013313 semapv:UnspecifiedMatching +OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 skos:exactMatch hgnc.symbol:EDSS2 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0795934 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C0917800 semapv:UnspecifiedMatching OMIM:613577 TBC1D24 skos:exactMatch UMLS:C1823245 semapv:UnspecifiedMatching @@ -64160,6 +65108,7 @@ OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:28093 semapv:UnspecifiedMatching OMIM:613605 BBIP1 skos:exactMatch hgnc.symbol:BBIP1 semapv:UnspecifiedMatching OMIM:613605 BBIP1 skos:exactMatch ncbigene:92482 semapv:UnspecifiedMatching OMIM:613606 forsythe-wakeling syndrome skos:exactMatch MONDO:0013321 semapv:UnspecifiedMatching +OMIM:613606 forsythe-wakeling syndrome skos:exactMatch hgnc.symbol:FWS semapv:UnspecifiedMatching OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:21569 semapv:UnspecifiedMatching OMIM:613607 THEMIS skos:exactMatch hgnc.symbol:THEMIS semapv:UnspecifiedMatching OMIM:613607 THEMIS skos:exactMatch ncbigene:387357 semapv:UnspecifiedMatching @@ -64242,6 +65191,8 @@ OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:24921 semapv:UnspecifiedMatchin OMIM:613635 EIF2AK1 skos:exactMatch hgnc.symbol:EIF2AK1 semapv:UnspecifiedMatching OMIM:613635 EIF2AK1 skos:exactMatch ncbigene:27102 semapv:UnspecifiedMatching OMIM:613636 tuberculin skin test reactivity, absence of skos:exactMatch MONDO:0013335 semapv:UnspecifiedMatching +OMIM:613636 tuberculin skin test reactivity, absence of skos:exactMatch hgnc.symbol:TST1 semapv:UnspecifiedMatching +OMIM:613637 tuberculin skin test reactivity quantitative trait locus skos:exactMatch hgnc.symbol:TST2 semapv:UnspecifiedMatching OMIM:613638 chromosome 19p13.13 deletion syndrome skos:exactMatch MONDO:0013336 semapv:UnspecifiedMatching OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:19893 semapv:UnspecifiedMatching OMIM:613639 ADGRD1 skos:exactMatch hgnc.symbol:ADGRD1 semapv:UnspecifiedMatching @@ -64346,6 +65297,7 @@ OMIM:613683 SLC50A1 skos:exactMatch hgnc.symbol:SLC50A1 semapv:UnspecifiedMatch OMIM:613683 SLC50A1 skos:exactMatch ncbigene:55974 semapv:UnspecifiedMatching OMIM:613684 rubinstein-taybi syndrome 2 skos:exactMatch MONDO:0013364 semapv:UnspecifiedMatching OMIM:613685 deafness, autosomal recessive 83 skos:exactMatch MONDO:0013365 semapv:UnspecifiedMatching +OMIM:613685 deafness, autosomal recessive 83 skos:exactMatch hgnc.symbol:DFNB83 semapv:UnspecifiedMatching OMIM:613686 spondylocostal dysostosis 4, autosomal recessive skos:exactMatch MONDO:0013366 semapv:UnspecifiedMatching OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:26074 semapv:UnspecifiedMatching OMIM:613687 PARPBP skos:exactMatch hgnc.symbol:PARPBP semapv:UnspecifiedMatching @@ -64354,6 +65306,7 @@ OMIM:613688 long qt syndrome 2 skos:exactMatch MONDO:0013367 semapv:Unspecified OMIM:613689 mammary-digital-nail syndrome skos:exactMatch MONDO:0013368 semapv:UnspecifiedMatching OMIM:613689 mammary-digital-nail syndrome skos:exactMatch Orphanet:238744 semapv:UnspecifiedMatching OMIM:613689 mammary-digital-nail syndrome skos:exactMatch UMLS:C3150946 semapv:UnspecifiedMatching +OMIM:613689 mammary-digital-nail syndrome skos:exactMatch hgnc.symbol:MDNS semapv:UnspecifiedMatching OMIM:613690 cardiomyopathy, familial hypertrophic, 7 skos:exactMatch MONDO:0013369 semapv:UnspecifiedMatching OMIM:613690 cardiomyopathy, familial hypertrophic, 7 skos:exactMatch UMLS:C1860752 semapv:UnspecifiedMatching OMIM:613691 GRAMD4 skos:exactMatch hgnc.symbol:29113 semapv:UnspecifiedMatching @@ -64594,6 +65547,7 @@ OMIM:613803 meier-gorlin syndrome 3 skos:exactMatch MONDO:0013430 semapv:Unspec OMIM:613804 meier-gorlin syndrome 4 skos:exactMatch MONDO:0013431 semapv:UnspecifiedMatching OMIM:613805 meier-gorlin syndrome 5 skos:exactMatch MONDO:0013432 semapv:UnspecifiedMatching OMIM:613806 cholangitis, primary sclerosing skos:exactMatch MONDO:0013433 semapv:UnspecifiedMatching +OMIM:613806 cholangitis, primary sclerosing skos:exactMatch hgnc.symbol:PSC semapv:UnspecifiedMatching OMIM:613807 ciliary dyskinesia, primary, 14 skos:exactMatch MONDO:0013434 semapv:UnspecifiedMatching OMIM:613808 ciliary dyskinesia, primary, 15 skos:exactMatch MONDO:0013435 semapv:UnspecifiedMatching OMIM:613809 retinitis pigmentosa 39 skos:exactMatch MONDO:0013436 semapv:UnspecifiedMatching @@ -64633,6 +65587,7 @@ OMIM:613825 complement component 9 deficiency skos:exactMatch MONDO:0013445 sem OMIM:613826 leber congenital amaurosis 6 skos:exactMatch MONDO:0013446 semapv:UnspecifiedMatching OMIM:613827 retinitis pigmentosa 48 skos:exactMatch MONDO:0013447 semapv:UnspecifiedMatching OMIM:613828 generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch MONDO:0013448 semapv:UnspecifiedMatching +OMIM:613828 generalized epilepsy with febrile seizures plus, type 8 skos:exactMatch hgnc.symbol:GEFSP8 semapv:UnspecifiedMatching OMIM:613829 leber congenital amaurosis 7 skos:exactMatch MONDO:0013449 semapv:UnspecifiedMatching OMIM:613830 night blindness, congenital stationary, type 1d skos:exactMatch MONDO:0013450 semapv:UnspecifiedMatching OMIM:613831 UBR3 skos:exactMatch hgnc.symbol:30467 semapv:UnspecifiedMatching @@ -64645,6 +65600,7 @@ OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch MONDO:0013452 se OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch Orphanet:404463 semapv:UnspecifiedMatching OMIM:613834 smooth muscle dysfunction syndrome skos:exactMatch UMLS:C3151201 semapv:UnspecifiedMatching OMIM:613835 leber congenital amaurosis 8 skos:exactMatch MONDO:0013453 semapv:UnspecifiedMatching +OMIM:613836 adiponectin, serum level of, quantitative trait locus 5 skos:exactMatch hgnc.symbol:ADIPQTL5 semapv:UnspecifiedMatching OMIM:613837 leber congenital amaurosis 11 skos:exactMatch MONDO:0013454 semapv:UnspecifiedMatching OMIM:613838 cardiomyopathy, familial hypertrophic, 16 skos:exactMatch MONDO:0013455 semapv:UnspecifiedMatching OMIM:613839 megaloblastic anemia due to dihydrofolate reductase deficiency skos:exactMatch MONDO:0013456 semapv:UnspecifiedMatching @@ -64683,6 +65639,7 @@ OMIM:613854 congenital heart defects, multiple types, 6 skos:exactMatch UMLS:C31 OMIM:613855 episodic ataxia, type 5 skos:exactMatch MONDO:0013464 semapv:UnspecifiedMatching OMIM:613856 achromatopsia 4 skos:exactMatch MONDO:0013465 semapv:UnspecifiedMatching OMIM:613857 orofacial cleft 13 skos:exactMatch MONDO:0013466 semapv:UnspecifiedMatching +OMIM:613857 orofacial cleft 13 skos:exactMatch hgnc.symbol:OFC13 semapv:UnspecifiedMatching OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:39433 semapv:UnspecifiedMatching OMIM:613858 PRSS56 skos:exactMatch hgnc.symbol:PRSS56 semapv:UnspecifiedMatching OMIM:613858 PRSS56 skos:exactMatch ncbigene:646960 semapv:UnspecifiedMatching @@ -64693,6 +65650,7 @@ OMIM:613860 ficolin 3 deficiency skos:exactMatch MONDO:0013467 semapv:Unspecifi OMIM:613861 retinitis pigmentosa 59 skos:exactMatch MONDO:0013468 semapv:UnspecifiedMatching OMIM:613862 retinitis pigmentosa 38 skos:exactMatch MONDO:0013469 semapv:UnspecifiedMatching OMIM:613863 generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch MONDO:0013470 semapv:UnspecifiedMatching +OMIM:613863 generalized epilepsy with febrile seizures plus, type 7 skos:exactMatch hgnc.symbol:GEFSP7 semapv:UnspecifiedMatching OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:13507 semapv:UnspecifiedMatching OMIM:613864 ZNF317 skos:exactMatch hgnc.symbol:ZNF317 semapv:UnspecifiedMatching OMIM:613864 ZNF317 skos:exactMatch ncbigene:57693 semapv:UnspecifiedMatching @@ -64854,6 +65812,7 @@ OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:16646 semapv:UnspecifiedMatching OMIM:613929 SPINK4 skos:exactMatch hgnc.symbol:SPINK4 semapv:UnspecifiedMatching OMIM:613929 SPINK4 skos:exactMatch ncbigene:27290 semapv:UnspecifiedMatching OMIM:613930 alopecia-intellectual disability syndrome 3 skos:exactMatch MONDO:0013492 semapv:UnspecifiedMatching +OMIM:613930 alopecia-intellectual disability syndrome 3 skos:exactMatch hgnc.symbol:APMR3 semapv:UnspecifiedMatching OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:15954 semapv:UnspecifiedMatching OMIM:613931 TOE1 skos:exactMatch hgnc.symbol:TOE1 semapv:UnspecifiedMatching OMIM:613931 TOE1 skos:exactMatch ncbigene:114034 semapv:UnspecifiedMatching @@ -64875,6 +65834,7 @@ OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:25587 semapv:UnspecifiedMatchi OMIM:613937 TMEM184C skos:exactMatch hgnc.symbol:TMEM184C semapv:UnspecifiedMatching OMIM:613937 TMEM184C skos:exactMatch ncbigene:55751 semapv:UnspecifiedMatching OMIM:613938 parasomnia, sleepwalking type skos:exactMatch MONDO:0100226 semapv:UnspecifiedMatching +OMIM:613938 parasomnia, sleepwalking type skos:exactMatch hgnc.symbol:PSMNSW semapv:UnspecifiedMatching OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:26125 semapv:UnspecifiedMatching OMIM:613939 SPATA20 skos:exactMatch hgnc.symbol:SPATA20 semapv:UnspecifiedMatching OMIM:613939 SPATA20 skos:exactMatch ncbigene:64847 semapv:UnspecifiedMatching @@ -64888,6 +65848,7 @@ OMIM:613942 SUN5 skos:exactMatch hgnc.symbol:SUN5 semapv:UnspecifiedMatching OMIM:613942 SUN5 skos:exactMatch ncbigene:140732 semapv:UnspecifiedMatching OMIM:613943 ichthyosis, congenital, autosomal recessive 8 skos:exactMatch MONDO:0013495 semapv:UnspecifiedMatching OMIM:613944 iga nephropathy, susceptibility to, 2 skos:exactMatch MONDO:0013496 semapv:UnspecifiedMatching +OMIM:613944 iga nephropathy, susceptibility to, 2 skos:exactMatch hgnc.symbol:IGAN2 semapv:UnspecifiedMatching OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:24138 semapv:UnspecifiedMatching OMIM:613945 DNAJC5B skos:exactMatch hgnc.symbol:DNAJC5B semapv:UnspecifiedMatching OMIM:613945 DNAJC5B skos:exactMatch ncbigene:85479 semapv:UnspecifiedMatching @@ -64944,6 +65905,7 @@ OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:20639 semapv:UnspecifiedMatchin OMIM:613968 TAS2R60 skos:exactMatch hgnc.symbol:TAS2R60 semapv:UnspecifiedMatching OMIM:613968 TAS2R60 skos:exactMatch ncbigene:338398 semapv:UnspecifiedMatching OMIM:613969 myopia 19, autosomal dominant skos:exactMatch MONDO:0013508 semapv:UnspecifiedMatching +OMIM:613969 myopia 19, autosomal dominant skos:exactMatch hgnc.symbol:MYP19 semapv:UnspecifiedMatching OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch MONDO:0013509 semapv:UnspecifiedMatching OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:613970 intellectual developmental disorder, autosomal dominant 6, with or without seizures skos:exactMatch UMLS:C3151411 semapv:UnspecifiedMatching @@ -65360,6 +66322,7 @@ OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:34072 semapv:UnspecifiedMatchi OMIM:614148 C1QTNF9B skos:exactMatch hgnc.symbol:C1QTNF9B semapv:UnspecifiedMatching OMIM:614148 C1QTNF9B skos:exactMatch ncbigene:387911 semapv:UnspecifiedMatching OMIM:614149 nail disorder, nonsyndromic congenital, 9 skos:exactMatch MONDO:0013592 semapv:UnspecifiedMatching +OMIM:614149 nail disorder, nonsyndromic congenital, 9 skos:exactMatch hgnc.symbol:NDNC9 semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch UMLS:C2828534 semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch UMLS:C5394173 semapv:UnspecifiedMatching OMIM:614150 PKDCC skos:exactMatch hgnc.symbol:25123 semapv:UnspecifiedMatching @@ -65379,6 +66342,7 @@ OMIM:614155 MIR1292 skos:exactMatch ncbigene:100302138 semapv:UnspecifiedMatchi OMIM:614156 hyperbiliverdinemia skos:exactMatch MONDO:0013595 semapv:UnspecifiedMatching OMIM:614157 skos:exactMatch MONDO:0013596 semapv:UnspecifiedMatching OMIM:614158 bleeding disorder, platelet-type, 14 skos:exactMatch MONDO:0013597 semapv:UnspecifiedMatching +OMIM:614158 bleeding disorder, platelet-type, 14 skos:exactMatch hgnc.symbol:BDPLT14 semapv:UnspecifiedMatching OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:29222 semapv:UnspecifiedMatching OMIM:614159 ZNF644 skos:exactMatch hgnc.symbol:ZNF644 semapv:UnspecifiedMatching OMIM:614159 ZNF644 skos:exactMatch ncbigene:84146 semapv:UnspecifiedMatching @@ -65393,6 +66357,7 @@ OMIM:614163 delayed sleep phase disorder, susceptibility to skos:exactMatch MOND OMIM:614164 glutathione peroxidase deficiency skos:exactMatch MONDO:0013601 semapv:UnspecifiedMatching OMIM:614165 pheochromocytoma/paraganglioma syndrome 5 skos:exactMatch MONDO:0013602 semapv:UnspecifiedMatching OMIM:614166 myopia 20, autosomal dominant skos:exactMatch MONDO:0013603 semapv:UnspecifiedMatching +OMIM:614166 myopia 20, autosomal dominant skos:exactMatch hgnc.symbol:MYP20 semapv:UnspecifiedMatching OMIM:614167 myopia 21, autosomal dominant skos:exactMatch MONDO:0013604 semapv:UnspecifiedMatching OMIM:614167 myopia 21, autosomal dominant skos:exactMatch UMLS:C3279997 semapv:UnspecifiedMatching OMIM:614168 PCK1 skos:exactMatch UMLS:C0268194 semapv:UnspecifiedMatching @@ -65438,6 +66403,7 @@ OMIM:614184 DIS3L2 skos:exactMatch ncbigene:129563 semapv:UnspecifiedMatching OMIM:614185 geleophysic dysplasia 2 skos:exactMatch MONDO:0013612 semapv:UnspecifiedMatching OMIM:614186 leber congenital amaurosis 16 skos:exactMatch MONDO:0013613 semapv:UnspecifiedMatching OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness skos:exactMatch MONDO:0013614 semapv:UnspecifiedMatching +OMIM:614187 hypertelorism, preauricular sinus, punctal pits, and deafness skos:exactMatch hgnc.symbol:HPPD semapv:UnspecifiedMatching OMIM:614188 craniosynostosis and dental anomalies skos:exactMatch MONDO:0013615 semapv:UnspecifiedMatching OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:31668 semapv:UnspecifiedMatching OMIM:614189 GOLGA7B skos:exactMatch hgnc.symbol:GOLGA7B semapv:UnspecifiedMatching @@ -65447,6 +66413,7 @@ OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:18423 semapv:UnspecifiedMatching OMIM:614191 DEPDC5 skos:exactMatch hgnc.symbol:DEPDC5 semapv:UnspecifiedMatching OMIM:614191 DEPDC5 skos:exactMatch ncbigene:9681 semapv:UnspecifiedMatching OMIM:614192 skos:exactMatch MONDO:0013617 semapv:UnspecifiedMatching +OMIM:614193 transferrin serum level quantitative trait locus 2 skos:exactMatch hgnc.symbol:TFQTL2 semapv:UnspecifiedMatching OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:19189 semapv:UnspecifiedMatching OMIM:614194 DOCK6 skos:exactMatch hgnc.symbol:DOCK6 semapv:UnspecifiedMatching OMIM:614194 DOCK6 skos:exactMatch ncbigene:57572 semapv:UnspecifiedMatching @@ -65458,6 +66425,7 @@ OMIM:614197 MCU skos:exactMatch ncbigene:90550 semapv:UnspecifiedMatching OMIM:614198 myasthenic syndrome, congenital, 16 skos:exactMatch MONDO:0013620 semapv:UnspecifiedMatching OMIM:614199 nephrotic syndrome, type 5, with or without ocular abnormalities skos:exactMatch MONDO:0013621 semapv:UnspecifiedMatching OMIM:614200 bleeding disorder, platelet-type, 9 skos:exactMatch MONDO:0013622 semapv:UnspecifiedMatching +OMIM:614200 bleeding disorder, platelet-type, 9 skos:exactMatch hgnc.symbol:BDPLT9 semapv:UnspecifiedMatching OMIM:614201 bleeding disorder, platelet-type, 11 skos:exactMatch MONDO:0013623 semapv:UnspecifiedMatching OMIM:614202 rafiq syndrome skos:exactMatch MONDO:0013624 semapv:UnspecifiedMatching OMIM:614202 rafiq syndrome skos:exactMatch Orphanet:88616 semapv:UnspecifiedMatching @@ -65474,9 +66442,12 @@ OMIM:614206 CHTOP skos:exactMatch hgnc.symbol:CHTOP semapv:UnspecifiedMatching OMIM:614206 CHTOP skos:exactMatch ncbigene:26097 semapv:UnspecifiedMatching OMIM:614207 hyperphosphatasia with impaired intellectual development syndrome 3 skos:exactMatch MONDO:0013628 semapv:UnspecifiedMatching OMIM:614208 intellectual developmental disorder, autosomal recessive 16 skos:exactMatch MONDO:0013629 semapv:UnspecifiedMatching +OMIM:614208 intellectual developmental disorder, autosomal recessive 16 skos:exactMatch hgnc.symbol:MRT16 semapv:UnspecifiedMatching OMIM:614209 meckel syndrome, type 9 skos:exactMatch MONDO:0013630 semapv:UnspecifiedMatching OMIM:614210 lung cancer susceptibility 5 skos:exactMatch MONDO:0013631 semapv:UnspecifiedMatching +OMIM:614210 lung cancer susceptibility 5 skos:exactMatch hgnc.symbol:LNCR5 semapv:UnspecifiedMatching OMIM:614211 deafness, autosomal dominant 33 skos:exactMatch MONDO:0013632 semapv:UnspecifiedMatching +OMIM:614211 deafness, autosomal dominant 33 skos:exactMatch hgnc.symbol:DFNA33 semapv:UnspecifiedMatching OMIM:614212 encephalopathy, acute, infection-induced, susceptibility to, 4 skos:exactMatch MONDO:0013633 semapv:UnspecifiedMatching OMIM:614213 neuropathy, hereditary sensory, type 2c skos:exactMatch MONDO:0013634 semapv:UnspecifiedMatching OMIM:614214 KLHL6 skos:exactMatch hgnc.symbol:18653 semapv:UnspecifiedMatching @@ -65499,13 +66470,17 @@ OMIM:614218 WDR81 skos:exactMatch hgnc.symbol:WDR81 semapv:UnspecifiedMatching OMIM:614218 WDR81 skos:exactMatch ncbigene:124997 semapv:UnspecifiedMatching OMIM:614219 adams-oliver syndrome 2 skos:exactMatch MONDO:0013635 semapv:UnspecifiedMatching OMIM:614220 biliary cirrhosis, primary, 4 skos:exactMatch MONDO:0013636 semapv:UnspecifiedMatching +OMIM:614220 biliary cirrhosis, primary, 4 skos:exactMatch hgnc.symbol:PBC4 semapv:UnspecifiedMatching OMIM:614221 biliary cirrhosis, primary, 5 skos:exactMatch MONDO:0013637 semapv:UnspecifiedMatching +OMIM:614221 biliary cirrhosis, primary, 5 skos:exactMatch hgnc.symbol:PBC5 semapv:UnspecifiedMatching OMIM:614222 warburg micro syndrome 3 skos:exactMatch MONDO:0013638 semapv:UnspecifiedMatching OMIM:614223 narcolepsy 6, susceptibility to skos:exactMatch MONDO:0013639 semapv:UnspecifiedMatching +OMIM:614223 narcolepsy 6, susceptibility to skos:exactMatch hgnc.symbol:NRCLP6 semapv:UnspecifiedMatching OMIM:614224 retinal arterial macroaneurysm with supravalvular pulmonic stenosis skos:exactMatch MONDO:0013640 semapv:UnspecifiedMatching OMIM:614225 warburg micro syndrome 2 skos:exactMatch MONDO:0013641 semapv:UnspecifiedMatching OMIM:614226 holoprosencephaly 11 skos:exactMatch MONDO:0013642 semapv:UnspecifiedMatching OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 skos:exactMatch MONDO:0013643 semapv:UnspecifiedMatching +OMIM:614227 hyperuricemic nephropathy, familial juvenile, 3 skos:exactMatch hgnc.symbol:HNFJ3 semapv:UnspecifiedMatching OMIM:614228 charcot-marie-tooth disease, axonal, type 2o skos:exactMatch MONDO:0013644 semapv:UnspecifiedMatching OMIM:614229 spinocerebellar ataxia, autosomal recessive 11 skos:exactMatch MONDO:0013645 semapv:UnspecifiedMatching OMIM:614230 chromosome 8q21.11 deletion syndrome skos:exactMatch MONDO:0013646 semapv:UnspecifiedMatching @@ -65526,7 +66501,9 @@ OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:25582 semapv:UnspecifiedMatchin OMIM:614236 SLC38A7 skos:exactMatch hgnc.symbol:SLC38A7 semapv:UnspecifiedMatching OMIM:614236 SLC38A7 skos:exactMatch ncbigene:55238 semapv:UnspecifiedMatching OMIM:614237 hypotrichosis 9 skos:exactMatch MONDO:0013649 semapv:UnspecifiedMatching +OMIM:614237 hypotrichosis 9 skos:exactMatch hgnc.symbol:HYPT9 semapv:UnspecifiedMatching OMIM:614238 hypotrichosis 10 skos:exactMatch MONDO:0013650 semapv:UnspecifiedMatching +OMIM:614238 hypotrichosis 10 skos:exactMatch hgnc.symbol:HYP10 semapv:UnspecifiedMatching OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:26509 semapv:UnspecifiedMatching OMIM:614239 PHETA1 skos:exactMatch hgnc.symbol:PHETA1 semapv:UnspecifiedMatching OMIM:614239 PHETA1 skos:exactMatch ncbigene:144717 semapv:UnspecifiedMatching @@ -65561,6 +66538,7 @@ OMIM:614249 intellectual developmental disorder, autosomal recessive 18, with or OMIM:614250 narcolepsy 7 skos:exactMatch MONDO:0013652 semapv:UnspecifiedMatching OMIM:614251 parkinson disease 18, autosomal dominant, susceptibility to skos:exactMatch MONDO:0013653 semapv:UnspecifiedMatching OMIM:614252 aneurysm, intracranial berry, 11 skos:exactMatch MONDO:0013654 semapv:UnspecifiedMatching +OMIM:614252 aneurysm, intracranial berry, 11 skos:exactMatch hgnc.symbol:ANIB11 semapv:UnspecifiedMatching OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch MONDO:0013655 semapv:UnspecifiedMatching OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch Orphanet:178469 semapv:UnspecifiedMatching OMIM:614254 neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant skos:exactMatch UMLS:C3280282 semapv:UnspecifiedMatching @@ -65632,6 +66610,7 @@ OMIM:614279 46,xy sex reversal 8 skos:exactMatch MONDO:0013664 semapv:Unspecifi OMIM:614279 46,xy sex reversal 8 skos:exactMatch Orphanet:443087 semapv:UnspecifiedMatching OMIM:614279 46,xy sex reversal 8 skos:exactMatch UMLS:C1839840 semapv:UnspecifiedMatching OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch MONDO:0013665 semapv:UnspecifiedMatching +OMIM:614280 epilepsy, juvenile myoclonic, susceptibility to, 9 skos:exactMatch hgnc.symbol:EJM9 semapv:UnspecifiedMatching OMIM:614281 ESAM skos:exactMatch hgnc.symbol:17474 semapv:UnspecifiedMatching OMIM:614281 ESAM skos:exactMatch hgnc.symbol:ESAM semapv:UnspecifiedMatching OMIM:614281 ESAM skos:exactMatch ncbigene:90952 semapv:UnspecifiedMatching @@ -65713,8 +66692,11 @@ OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:17792 semapv:UnspecifiedMatching OMIM:614316 VTI1A skos:exactMatch hgnc.symbol:VTI1A semapv:UnspecifiedMatching OMIM:614316 VTI1A skos:exactMatch ncbigene:143187 semapv:UnspecifiedMatching OMIM:614317 vesicoureteral reflux 4 skos:exactMatch MONDO:0013682 semapv:UnspecifiedMatching +OMIM:614317 vesicoureteral reflux 4 skos:exactMatch hgnc.symbol:VUR4 semapv:UnspecifiedMatching OMIM:614318 vesicoureteral reflux 5 skos:exactMatch MONDO:0013683 semapv:UnspecifiedMatching +OMIM:614318 vesicoureteral reflux 5 skos:exactMatch hgnc.symbol:VUR5 semapv:UnspecifiedMatching OMIM:614319 vesicoureteral reflux 6 skos:exactMatch MONDO:0013684 semapv:UnspecifiedMatching +OMIM:614319 vesicoureteral reflux 6 skos:exactMatch hgnc.symbol:VUR6 semapv:UnspecifiedMatching OMIM:614320 pancreatic cancer, susceptibility to, 4 skos:exactMatch MONDO:0013685 semapv:UnspecifiedMatching OMIM:614321 myopathy, distal, tateyama type skos:exactMatch MONDO:0013686 semapv:UnspecifiedMatching OMIM:614322 spinocerebellar ataxia, autosomal recessive 12 skos:exactMatch MONDO:0013687 semapv:UnspecifiedMatching @@ -65730,12 +66712,14 @@ OMIM:614326 feingold syndrome 2 skos:exactMatch MONDO:0013691 semapv:Unspecifie OMIM:614327 tumor predisposition syndrome 1 skos:exactMatch MONDO:0013692 semapv:UnspecifiedMatching OMIM:614328 inflammatory skin and bowel disease, neonatal, 1 skos:exactMatch MONDO:0013693 semapv:UnspecifiedMatching OMIM:614329 intellectual developmental disorder, autosomal recessive 31 skos:exactMatch MONDO:0013694 semapv:UnspecifiedMatching +OMIM:614329 intellectual developmental disorder, autosomal recessive 31 skos:exactMatch hgnc.symbol:MRT31 semapv:UnspecifiedMatching OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:24181 semapv:UnspecifiedMatching OMIM:614330 C1QL2 skos:exactMatch hgnc.symbol:C1QL2 semapv:UnspecifiedMatching OMIM:614330 C1QL2 skos:exactMatch ncbigene:165257 semapv:UnspecifiedMatching OMIM:614331 colorectal cancer, hereditary nonpolyposis, type 6 skos:exactMatch MONDO:0013695 semapv:UnspecifiedMatching OMIM:614332 chromosome 2p16.3 deletion syndrome skos:exactMatch MONDO:0013696 semapv:UnspecifiedMatching OMIM:614333 intellectual developmental disorder, autosomal recessive 29 skos:exactMatch MONDO:0013697 semapv:UnspecifiedMatching +OMIM:614333 intellectual developmental disorder, autosomal recessive 29 skos:exactMatch hgnc.symbol:MRT29 semapv:UnspecifiedMatching OMIM:614334 DNAJC13 skos:exactMatch hgnc.symbol:30343 semapv:UnspecifiedMatching OMIM:614334 DNAJC13 skos:exactMatch hgnc.symbol:DNAJC13 semapv:UnspecifiedMatching OMIM:614334 DNAJC13 skos:exactMatch ncbigene:23317 semapv:UnspecifiedMatching @@ -65748,12 +66732,19 @@ OMIM:614338 pancreatic lipase deficiency skos:exactMatch MONDO:0013700 semapv:U OMIM:614339 skos:exactMatch MONDO:0013701 semapv:UnspecifiedMatching OMIM:614340 intellectual developmental disorder, autosomal recessive 27 skos:exactMatch MONDO:0013702 semapv:UnspecifiedMatching OMIM:614341 intellectual developmental disorder, autosomal recessive 33 skos:exactMatch MONDO:0013703 semapv:UnspecifiedMatching +OMIM:614341 intellectual developmental disorder, autosomal recessive 33 skos:exactMatch hgnc.symbol:MRT33 semapv:UnspecifiedMatching OMIM:614342 intellectual developmental disorder, autosomal recessive 30 skos:exactMatch MONDO:0013704 semapv:UnspecifiedMatching +OMIM:614342 intellectual developmental disorder, autosomal recessive 30 skos:exactMatch hgnc.symbol:MRT30 semapv:UnspecifiedMatching OMIM:614343 intellectual developmental disorder, autosomal recessive 19 skos:exactMatch MONDO:0013705 semapv:UnspecifiedMatching +OMIM:614343 intellectual developmental disorder, autosomal recessive 19 skos:exactMatch hgnc.symbol:MRT19 semapv:UnspecifiedMatching OMIM:614344 intellectual developmental disorder, autosomal recessive 23 skos:exactMatch MONDO:0013706 semapv:UnspecifiedMatching +OMIM:614344 intellectual developmental disorder, autosomal recessive 23 skos:exactMatch hgnc.symbol:MRT23 semapv:UnspecifiedMatching OMIM:614345 intellectual developmental disorder, autosomal recessive 24 skos:exactMatch MONDO:0013707 semapv:UnspecifiedMatching +OMIM:614345 intellectual developmental disorder, autosomal recessive 24 skos:exactMatch hgnc.symbol:MRT24 semapv:UnspecifiedMatching OMIM:614346 intellectual developmental disorder, autosomal recessive 25 skos:exactMatch MONDO:0013708 semapv:UnspecifiedMatching +OMIM:614346 intellectual developmental disorder, autosomal recessive 25 skos:exactMatch hgnc.symbol:MRT25 semapv:UnspecifiedMatching OMIM:614347 intellectual developmental disorder, autosomal recessive 28 skos:exactMatch MONDO:0013709 semapv:UnspecifiedMatching +OMIM:614347 intellectual developmental disorder, autosomal recessive 28 skos:exactMatch hgnc.symbol:MRT28 semapv:UnspecifiedMatching OMIM:614348 ADTRP skos:exactMatch hgnc.symbol:21214 semapv:UnspecifiedMatching OMIM:614348 ADTRP skos:exactMatch hgnc.symbol:ADTRP semapv:UnspecifiedMatching OMIM:614348 ADTRP skos:exactMatch ncbigene:84830 semapv:UnspecifiedMatching @@ -65823,6 +66814,7 @@ OMIM:614371 dengue virus, susceptibility to skos:exactMatch MONDO:0013713 semap OMIM:614372 mannose-binding lectin deficiency skos:exactMatch MONDO:0013714 semapv:UnspecifiedMatching OMIM:614373 amyotrophic lateral sclerosis 16, juvenile skos:exactMatch MONDO:0013715 semapv:UnspecifiedMatching OMIM:614375 aortic aneurysm, familial abdominal, 4 skos:exactMatch MONDO:0013716 semapv:UnspecifiedMatching +OMIM:614375 aortic aneurysm, familial abdominal, 4 skos:exactMatch hgnc.symbol:AAA4 semapv:UnspecifiedMatching OMIM:614376 short-rib thoracic dysplasia 5 with or without polydactyly skos:exactMatch MONDO:0013717 semapv:UnspecifiedMatching OMIM:614377 nephronophthisis 13 skos:exactMatch MONDO:0013718 semapv:UnspecifiedMatching OMIM:614378 cranioectodermal dysplasia 4 skos:exactMatch MONDO:0013719 semapv:UnspecifiedMatching @@ -65898,6 +66890,7 @@ OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:24104 semapv:UnspecifiedMatching OMIM:614413 ACY3 skos:exactMatch hgnc.symbol:ACY3 semapv:UnspecifiedMatching OMIM:614413 ACY3 skos:exactMatch ncbigene:91703 semapv:UnspecifiedMatching OMIM:614414 deafness, autosomal recessive 96 skos:exactMatch MONDO:0013738 semapv:UnspecifiedMatching +OMIM:614414 deafness, autosomal recessive 96 skos:exactMatch hgnc.symbol:DFNB96 semapv:UnspecifiedMatching OMIM:614415 chilblain lupus 2 skos:exactMatch MONDO:0013739 semapv:UnspecifiedMatching OMIM:614416 radiohumeral fusions with other skeletal and craniofacial anomalies skos:exactMatch MONDO:0013740 semapv:UnspecifiedMatching OMIM:614417 epilepsy, familial temporal lobe, 5 skos:exactMatch MONDO:0013741 semapv:UnspecifiedMatching @@ -65906,6 +66899,7 @@ OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch MONDO:0013743 semap OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch Orphanet:300345 semapv:UnspecifiedMatching OMIM:614420 systemic lupus erythematosus 16 skos:exactMatch UMLS:C3280742 semapv:UnspecifiedMatching OMIM:614422 cataract 37 skos:exactMatch MONDO:0013744 semapv:UnspecifiedMatching +OMIM:614422 cataract 37 skos:exactMatch hgnc.symbol:CTRCT37 semapv:UnspecifiedMatching OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:14432 semapv:UnspecifiedMatching OMIM:614423 TMEM237 skos:exactMatch hgnc.symbol:TMEM237 semapv:UnspecifiedMatching OMIM:614423 TMEM237 skos:exactMatch ncbigene:65062 semapv:UnspecifiedMatching @@ -66060,6 +67054,7 @@ OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch MONDO:0013779 semapv:Uns OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch Orphanet:906 semapv:UnspecifiedMatching OMIM:614493 wiskott-aldrich syndrome 2 skos:exactMatch UMLS:C3281001 semapv:UnspecifiedMatching OMIM:614494 retinitis pigmentosa 63 skos:exactMatch MONDO:0013780 semapv:UnspecifiedMatching +OMIM:614494 retinitis pigmentosa 63 skos:exactMatch hgnc.symbol:RP63 semapv:UnspecifiedMatching OMIM:614495 pseudohypoaldosteronism, type 2d skos:exactMatch MONDO:0013781 semapv:UnspecifiedMatching OMIM:614496 pseudohypoaldosteronism, type 2e skos:exactMatch MONDO:0013782 semapv:UnspecifiedMatching OMIM:614497 microphthalmia/coloboma 7 skos:exactMatch MONDO:0013783 semapv:UnspecifiedMatching @@ -66285,9 +67280,11 @@ OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:28680 semapv:UnspecifiedMatching OMIM:614587 CHAC1 skos:exactMatch hgnc.symbol:CHAC1 semapv:UnspecifiedMatching OMIM:614587 CHAC1 skos:exactMatch ncbigene:79094 semapv:UnspecifiedMatching OMIM:614588 dystonia 21 skos:exactMatch MONDO:0013813 semapv:UnspecifiedMatching +OMIM:614588 dystonia 21 skos:exactMatch hgnc.symbol:DYT21 semapv:UnspecifiedMatching OMIM:614589 SKIC3 skos:exactMatch hgnc.symbol:SKIC3 semapv:UnspecifiedMatching OMIM:614589 SKIC3 skos:exactMatch ncbigene:9652 semapv:UnspecifiedMatching OMIM:614590 podoconiosis, susceptibility to skos:exactMatch MONDO:0013814 semapv:UnspecifiedMatching +OMIM:614590 podoconiosis, susceptibility to skos:exactMatch hgnc.symbol:PDCOS semapv:UnspecifiedMatching OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:31948 semapv:UnspecifiedMatching OMIM:614591 CEACAM16 skos:exactMatch hgnc.symbol:CEACAM16 semapv:UnspecifiedMatching OMIM:614591 CEACAM16 skos:exactMatch ncbigene:388551 semapv:UnspecifiedMatching @@ -66352,7 +67349,9 @@ OMIM:614620 IFT140 skos:exactMatch hgnc.symbol:IFT140 semapv:UnspecifiedMatchin OMIM:614620 IFT140 skos:exactMatch ncbigene:9742 semapv:UnspecifiedMatching OMIM:614621 uv-sensitive syndrome 2 skos:exactMatch MONDO:0013829 semapv:UnspecifiedMatching OMIM:614622 keratoconus 5 skos:exactMatch MONDO:0013830 semapv:UnspecifiedMatching +OMIM:614622 keratoconus 5 skos:exactMatch hgnc.symbol:KTCN5 semapv:UnspecifiedMatching OMIM:614623 keratoconus 6 skos:exactMatch MONDO:0013831 semapv:UnspecifiedMatching +OMIM:614623 keratoconus 6 skos:exactMatch hgnc.symbol:KTCN6 semapv:UnspecifiedMatching OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:21721 semapv:UnspecifiedMatching OMIM:614624 MALSU1 skos:exactMatch hgnc.symbol:MALSU1 semapv:UnspecifiedMatching OMIM:614624 MALSU1 skos:exactMatch ncbigene:115416 semapv:UnspecifiedMatching @@ -66366,7 +67365,9 @@ OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:41864 semapv:UnspecifiedMatchin OMIM:614627 MIR4449 skos:exactMatch hgnc.symbol:MIR4449 semapv:UnspecifiedMatching OMIM:614627 MIR4449 skos:exactMatch ncbigene:100616436 semapv:UnspecifiedMatching OMIM:614628 keratoconus 8 skos:exactMatch MONDO:0013832 semapv:UnspecifiedMatching +OMIM:614628 keratoconus 8 skos:exactMatch hgnc.symbol:KTCN8 semapv:UnspecifiedMatching OMIM:614629 keratoconus 7 skos:exactMatch MONDO:0013833 semapv:UnspecifiedMatching +OMIM:614629 keratoconus 7 skos:exactMatch hgnc.symbol:KTCN7 semapv:UnspecifiedMatching OMIM:614630 ADGB skos:exactMatch hgnc.symbol:21212 semapv:UnspecifiedMatching OMIM:614630 ADGB skos:exactMatch hgnc.symbol:ADGB semapv:UnspecifiedMatching OMIM:614630 ADGB skos:exactMatch ncbigene:79747 semapv:UnspecifiedMatching @@ -66410,6 +67411,9 @@ OMIM:614642 STARD9 skos:exactMatch ncbigene:57519 semapv:UnspecifiedMatching OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:exactMatch MONDO:0013835 semapv:UnspecifiedMatching OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:exactMatch Orphanet:899 semapv:UnspecifiedMatching OMIM:614643 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 skos:exactMatch UMLS:C3553330 semapv:UnspecifiedMatching +OMIM:614644 mean platelet volume/count quantitative trait locus 4 skos:exactMatch hgnc.symbol:MPVQTL4 semapv:UnspecifiedMatching +OMIM:614645 mean platelet volume/count quantitative trait locus 5 skos:exactMatch hgnc.symbol:MPVQTL5 semapv:UnspecifiedMatching +OMIM:614646 mean platelet volume/count quantitative trait locus 6 skos:exactMatch hgnc.symbol:MPVQTL6 semapv:UnspecifiedMatching OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:20233 semapv:UnspecifiedMatching OMIM:614647 COQ6 skos:exactMatch hgnc.symbol:COQ6 semapv:UnspecifiedMatching OMIM:614647 COQ6 skos:exactMatch ncbigene:51004 semapv:UnspecifiedMatching @@ -66427,6 +67431,7 @@ OMIM:614652 coenzyme Q10 deficiency, primary, 3 skos:exactMatch MONDO:0013838 s OMIM:614653 neuropathy, hereditary sensory and autonomic, type 6 skos:exactMatch MONDO:0013839 semapv:UnspecifiedMatching OMIM:614654 coenzyme Q10 deficiency, primary, 5 skos:exactMatch MONDO:0013840 semapv:UnspecifiedMatching OMIM:614655 stuttering, familial persistent, 3 skos:exactMatch MONDO:0013841 semapv:UnspecifiedMatching +OMIM:614655 stuttering, familial persistent, 3 skos:exactMatch hgnc.symbol:STUT3 semapv:UnspecifiedMatching OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:23530 semapv:UnspecifiedMatching OMIM:614656 PALD1 skos:exactMatch hgnc.symbol:PALD1 semapv:UnspecifiedMatching OMIM:614656 PALD1 skos:exactMatch ncbigene:27143 semapv:UnspecifiedMatching @@ -66461,6 +67466,7 @@ OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:19261 semapv:UnspecifiedMatching OMIM:614667 MTO1 skos:exactMatch hgnc.symbol:MTO1 semapv:UnspecifiedMatching OMIM:614667 MTO1 skos:exactMatch ncbigene:25821 semapv:UnspecifiedMatching OMIM:614668 stuttering, familial persistent, 4 skos:exactMatch MONDO:0013844 semapv:UnspecifiedMatching +OMIM:614668 stuttering, familial persistent, 4 skos:exactMatch hgnc.symbol:STUT4 semapv:UnspecifiedMatching OMIM:614669 auriculocondylar syndrome 2a skos:exactMatch MONDO:0013845 semapv:UnspecifiedMatching OMIM:614670 peripartum cardiomyopathy, susceptibility to skos:exactMatch MONDO:0013846 semapv:UnspecifiedMatching OMIM:614671 chromosome 16p11.2 duplication syndrome skos:exactMatch MONDO:0013847 semapv:UnspecifiedMatching @@ -66474,6 +67480,7 @@ OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch MONDO:0013851 semapv OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch Orphanet:314399 semapv:UnspecifiedMatching OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch UMLS:C3808553 semapv:UnspecifiedMatching OMIM:614676 cardiomyopathy, familial hypertrophic, 21 skos:exactMatch MONDO:0013852 semapv:UnspecifiedMatching +OMIM:614676 cardiomyopathy, familial hypertrophic, 21 skos:exactMatch hgnc.symbol:CMH21 semapv:UnspecifiedMatching OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:32700 semapv:UnspecifiedMatching OMIM:614677 CCDC103 skos:exactMatch hgnc.symbol:CCDC103 semapv:UnspecifiedMatching OMIM:614677 CCDC103 skos:exactMatch ncbigene:388389 semapv:UnspecifiedMatching @@ -66502,6 +67509,7 @@ OMIM:614690 C4ORF48 skos:exactMatch hgnc.symbol:NICOL1 semapv:UnspecifiedMatchi OMIM:614690 C4ORF48 skos:exactMatch ncbigene:401115 semapv:UnspecifiedMatching OMIM:614691 cataract 38 skos:exactMatch MONDO:0013859 semapv:UnspecifiedMatching OMIM:614692 membranous nephropathy, susceptibility to skos:exactMatch MONDO:0013860 semapv:UnspecifiedMatching +OMIM:614692 membranous nephropathy, susceptibility to skos:exactMatch hgnc.symbol:MBNP semapv:UnspecifiedMatching OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:29034 semapv:UnspecifiedMatching OMIM:614693 ATMIN skos:exactMatch hgnc.symbol:ATMIN semapv:UnspecifiedMatching OMIM:614693 ATMIN skos:exactMatch ncbigene:23300 semapv:UnspecifiedMatching @@ -66628,6 +67636,8 @@ OMIM:614741 mitochondrial pyruvate carrier deficiency skos:exactMatch MONDO:0013 OMIM:614742 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1 skos:exactMatch MONDO:0013878 semapv:UnspecifiedMatching OMIM:614743 pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2 skos:exactMatch MONDO:0013879 semapv:UnspecifiedMatching OMIM:614744 facial paresis, hereditary congenital, 3 skos:exactMatch MONDO:0013880 semapv:UnspecifiedMatching +OMIM:614746 uric acid concentration, serum, quantitative trait locus 5 skos:exactMatch hgnc.symbol:UAQTL5 semapv:UnspecifiedMatching +OMIM:614747 uric acid concentration, serum, quantitative trait locus 6 skos:exactMatch hgnc.symbol:UAQTL6 semapv:UnspecifiedMatching OMIM:614748 epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome skos:exactMatch MONDO:0013881 semapv:UnspecifiedMatching OMIM:614749 hyperphosphatasia with impaired intellectual development syndrome 2 skos:exactMatch MONDO:0013882 semapv:UnspecifiedMatching OMIM:614750 myasthenic syndrome, congenital, 13 skos:exactMatch MONDO:0013883 semapv:UnspecifiedMatching @@ -66857,10 +67867,12 @@ OMIM:614831 spinocerebellar ataxia, autosomal recessive 13 skos:exactMatch UMLS: OMIM:614832 amelogenesis imperfecta, hypomaturation type, iia4 skos:exactMatch MONDO:0013906 semapv:UnspecifiedMatching OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures skos:exactMatch MONDO:0018764 semapv:UnspecifiedMatching OMIM:614834 thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch MONDO:0013908 semapv:UnspecifiedMatching +OMIM:614834 thyrotoxic periodic paralysis, susceptibility to, 3 skos:exactMatch hgnc.symbol:TTPP3 semapv:UnspecifiedMatching OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:17780 semapv:UnspecifiedMatching OMIM:614835 ACTBL2 skos:exactMatch hgnc.symbol:ACTBL2 semapv:UnspecifiedMatching OMIM:614835 ACTBL2 skos:exactMatch ncbigene:345651 semapv:UnspecifiedMatching OMIM:614836 human herpesvirus 8, susceptibility to skos:exactMatch MONDO:0013909 semapv:UnspecifiedMatching +OMIM:614836 human herpesvirus 8, susceptibility to skos:exactMatch hgnc.symbol:HHV8S semapv:UnspecifiedMatching OMIM:614837 hypogonadotropic hypogonadism 8 with or without anosmia skos:exactMatch MONDO:0013910 semapv:UnspecifiedMatching OMIM:614838 hypogonadotropic hypogonadism 9 with or without anosmia skos:exactMatch MONDO:0013911 semapv:UnspecifiedMatching OMIM:614839 hypogonadotropic hypogonadism 10 with or without anosmia skos:exactMatch MONDO:0013912 semapv:UnspecifiedMatching @@ -66898,6 +67910,7 @@ OMIM:614859 peroxisome biogenesis disorder 3a (zellweger) skos:exactMatch MONDO: OMIM:614860 dystonia 23 skos:exactMatch MONDO:0013928 semapv:UnspecifiedMatching OMIM:614860 dystonia 23 skos:exactMatch Orphanet:420492 semapv:UnspecifiedMatching OMIM:614860 dystonia 23 skos:exactMatch UMLS:C3538999 semapv:UnspecifiedMatching +OMIM:614860 dystonia 23 skos:exactMatch hgnc.symbol:DYT23 semapv:UnspecifiedMatching OMIM:614861 deafness, autosomal recessive 98 skos:exactMatch MONDO:0013929 semapv:UnspecifiedMatching OMIM:614862 peroxisome biogenesis disorder 4a (zellweger) skos:exactMatch MONDO:0013930 semapv:UnspecifiedMatching OMIM:614863 peroxisome biogenesis disorder 4b skos:exactMatch MONDO:0013931 semapv:UnspecifiedMatching @@ -67024,7 +68037,9 @@ OMIM:614926 perrault syndrome 2 skos:exactMatch MONDO:0013972 semapv:Unspecifie OMIM:614926 perrault syndrome 2 skos:exactMatch Orphanet:2855 semapv:UnspecifiedMatching OMIM:614926 perrault syndrome 2 skos:exactMatch UMLS:C3554105 semapv:UnspecifiedMatching OMIM:614927 ectodermal dysplasia 5, hair/nail type skos:exactMatch MONDO:0013973 semapv:UnspecifiedMatching +OMIM:614927 ectodermal dysplasia 5, hair/nail type skos:exactMatch hgnc.symbol:ECTD5 semapv:UnspecifiedMatching OMIM:614928 ectodermal dysplasia 6, hair/nail type skos:exactMatch MONDO:0013974 semapv:UnspecifiedMatching +OMIM:614928 ectodermal dysplasia 6, hair/nail type skos:exactMatch hgnc.symbol:ECTD6 semapv:UnspecifiedMatching OMIM:614929 ectodermal dysplasia 7, hair/nail type skos:exactMatch MONDO:0013975 semapv:UnspecifiedMatching OMIM:614930 LRRC6 skos:exactMatch hgnc.symbol:16725 semapv:UnspecifiedMatching OMIM:614930 LRRC6 skos:exactMatch hgnc.symbol:DNAAF11 semapv:UnspecifiedMatching @@ -67037,6 +68052,7 @@ OMIM:614933 LINCMD1 skos:exactMatch ncbigene:101154644 semapv:UnspecifiedMatchi OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration skos:exactMatch MONDO:0013978 semapv:UnspecifiedMatching OMIM:614935 ciliary dyskinesia, primary, 19 skos:exactMatch MONDO:0013979 semapv:UnspecifiedMatching OMIM:614936 palmoplantar keratoderma, punctate type 1b skos:exactMatch MONDO:0013980 semapv:UnspecifiedMatching +OMIM:614936 palmoplantar keratoderma, punctate type 1b skos:exactMatch hgnc.symbol:PPKP1B semapv:UnspecifiedMatching OMIM:614937 myoclonus, familial, 1 skos:exactMatch MONDO:0100093 semapv:UnspecifiedMatching OMIM:614938 VTRNA2-1 skos:exactMatch hgnc.symbol:37054 semapv:UnspecifiedMatching OMIM:614938 VTRNA2-1 skos:exactMatch hgnc.symbol:VTRNA2-1 semapv:UnspecifiedMatching @@ -67075,6 +68091,7 @@ OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:26633 semapv:UnspecifiedMatching OMIM:614953 SLFN11 skos:exactMatch hgnc.symbol:SLFN11 semapv:UnspecifiedMatching OMIM:614953 SLFN11 skos:exactMatch ncbigene:91607 semapv:UnspecifiedMatching OMIM:614954 congenital heart defects, multiple types, 3 skos:exactMatch MONDO:0013988 semapv:UnspecifiedMatching +OMIM:614954 congenital heart defects, multiple types, 3 skos:exactMatch hgnc.symbol:CHDT3 semapv:UnspecifiedMatching OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:25500 semapv:UnspecifiedMatching OMIM:614955 SLFN12 skos:exactMatch hgnc.symbol:SLFN12 semapv:UnspecifiedMatching OMIM:614955 SLFN12 skos:exactMatch ncbigene:55106 semapv:UnspecifiedMatching @@ -67164,6 +68181,7 @@ OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:21297 semapv:UnspecifiedMatching OMIM:614989 EPS8L3 skos:exactMatch hgnc.symbol:EPS8L3 semapv:UnspecifiedMatching OMIM:614989 EPS8L3 skos:exactMatch ncbigene:79574 semapv:UnspecifiedMatching OMIM:614990 usher syndrome, type 1k skos:exactMatch MONDO:0014001 semapv:UnspecifiedMatching +OMIM:614990 usher syndrome, type 1k skos:exactMatch hgnc.symbol:USH1K semapv:UnspecifiedMatching OMIM:614991 UCH1LAS skos:exactMatch hgnc.symbol:40600 semapv:UnspecifiedMatching OMIM:614991 UCH1LAS skos:exactMatch hgnc.symbol:UCHL1-DT semapv:UnspecifiedMatching OMIM:614991 UCH1LAS skos:exactMatch ncbigene:101410542 semapv:UnspecifiedMatching @@ -67239,6 +68257,7 @@ OMIM:615020 ELP6 skos:exactMatch hgnc.symbol:25976 semapv:UnspecifiedMatching OMIM:615020 ELP6 skos:exactMatch hgnc.symbol:ELP6 semapv:UnspecifiedMatching OMIM:615020 ELP6 skos:exactMatch ncbigene:54859 semapv:UnspecifiedMatching OMIM:615022 ichthyosis, congenital, autosomal recessive 7 skos:exactMatch MONDO:0014009 semapv:UnspecifiedMatching +OMIM:615022 ichthyosis, congenital, autosomal recessive 7 skos:exactMatch hgnc.symbol:ARCI7 semapv:UnspecifiedMatching OMIM:615023 ichthyosis, congenital, autosomal recessive 9 skos:exactMatch MONDO:0014010 semapv:UnspecifiedMatching OMIM:615024 ichthyosis, congenital, autosomal recessive 10 skos:exactMatch MONDO:0014011 semapv:UnspecifiedMatching OMIM:615025 charcot-marie-tooth disease, axonal, type 2q skos:exactMatch MONDO:0014012 semapv:UnspecifiedMatching @@ -67367,6 +68386,7 @@ OMIM:615079 INTS13 skos:exactMatch hgnc.symbol:20174 semapv:UnspecifiedMatching OMIM:615079 INTS13 skos:exactMatch hgnc.symbol:INTS13 semapv:UnspecifiedMatching OMIM:615079 INTS13 skos:exactMatch ncbigene:55726 semapv:UnspecifiedMatching OMIM:615080 alzheimer disease 17 skos:exactMatch MONDO:0014036 semapv:UnspecifiedMatching +OMIM:615080 alzheimer disease 17 skos:exactMatch hgnc.symbol:AD17 semapv:UnspecifiedMatching OMIM:615081 spermatogenic failure 11 skos:exactMatch MONDO:0014037 semapv:UnspecifiedMatching OMIM:615082 c3hex, ability to smell skos:exactMatch MONDO:0044281 semapv:UnspecifiedMatching OMIM:615083 colorectal cancer, susceptibility to, 12 skos:exactMatch MONDO:0014038 semapv:UnspecifiedMatching @@ -67555,7 +68575,9 @@ OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:4945 semapv:UnspecifiedMatchin OMIM:615161 HLA-DQB2 skos:exactMatch hgnc.symbol:HLA-DQB2 semapv:UnspecifiedMatching OMIM:615161 HLA-DQB2 skos:exactMatch ncbigene:3120 semapv:UnspecifiedMatching OMIM:615162 intellectual developmental disorder, autosomal recessive 35 skos:exactMatch MONDO:0014067 semapv:UnspecifiedMatching +OMIM:615162 intellectual developmental disorder, autosomal recessive 35 skos:exactMatch hgnc.symbol:MRT35 semapv:UnspecifiedMatching OMIM:615163 cone-rod dystrophy 17 skos:exactMatch MONDO:0014068 semapv:UnspecifiedMatching +OMIM:615163 cone-rod dystrophy 17 skos:exactMatch hgnc.symbol:CORD17 semapv:UnspecifiedMatching OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:25744 semapv:UnspecifiedMatching OMIM:615164 AKIRIN1 skos:exactMatch hgnc.symbol:AKIRIN1 semapv:UnspecifiedMatching OMIM:615164 AKIRIN1 skos:exactMatch ncbigene:79647 semapv:UnspecifiedMatching @@ -67624,6 +68646,7 @@ OMIM:615189 ANKRD55 skos:exactMatch hgnc.symbol:ANKRD55 semapv:UnspecifiedMatch OMIM:615189 ANKRD55 skos:exactMatch ncbigene:79722 semapv:UnspecifiedMatching OMIM:615190 dyskeratosis congenita, autosomal recessive 5 skos:exactMatch MONDO:0014076 semapv:UnspecifiedMatching OMIM:615191 lissencephaly 5 skos:exactMatch MONDO:0014077 semapv:UnspecifiedMatching +OMIM:615192 birth weight quantitative trait locus 4 skos:exactMatch hgnc.symbol:BWQTL4 semapv:UnspecifiedMatching OMIM:615193 bleeding disorder, platelet-type, 15 skos:exactMatch MONDO:0014078 semapv:UnspecifiedMatching OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:18349 semapv:UnspecifiedMatching OMIM:615194 DHRS2 skos:exactMatch hgnc.symbol:DHRS2 semapv:UnspecifiedMatching @@ -67635,6 +68658,7 @@ OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:19731 semapv:UnspecifiedMatchin OMIM:615196 DHRS4L2 skos:exactMatch hgnc.symbol:DHRS4L2 semapv:UnspecifiedMatching OMIM:615196 DHRS4L2 skos:exactMatch ncbigene:317749 semapv:UnspecifiedMatching OMIM:615197 restless legs syndrome, susceptibility to, 8 skos:exactMatch MONDO:0014079 semapv:UnspecifiedMatching +OMIM:615197 restless legs syndrome, susceptibility to, 8 skos:exactMatch hgnc.symbol:RLS8 semapv:UnspecifiedMatching OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch MONDO:0014080 semapv:UnspecifiedMatching OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch Orphanet:500548 semapv:UnspecifiedMatching OMIM:615198 osteosclerotic metaphyseal dysplasia skos:exactMatch UMLS:C3554665 semapv:UnspecifiedMatching @@ -67912,6 +68936,7 @@ OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:34885 semapv:UnspecifiedMatc OMIM:615310 TRV-AAC1-1 skos:exactMatch hgnc.symbol:TRV-AAC1-1 semapv:UnspecifiedMatching OMIM:615310 TRV-AAC1-1 skos:exactMatch ncbigene:100189318 semapv:UnspecifiedMatching OMIM:615312 albinism, oculocutaneous, type 5 skos:exactMatch MONDO:0014127 semapv:UnspecifiedMatching +OMIM:615312 albinism, oculocutaneous, type 5 skos:exactMatch hgnc.symbol:OCA5 semapv:UnspecifiedMatching OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:18811 semapv:UnspecifiedMatching OMIM:615313 B3GNT7 skos:exactMatch hgnc.symbol:B3GNT7 semapv:UnspecifiedMatching OMIM:615313 B3GNT7 skos:exactMatch ncbigene:93010 semapv:UnspecifiedMatching @@ -68107,6 +69132,7 @@ OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:23487 semapv:UnspecifiedMatching OMIM:615389 IDI2 skos:exactMatch hgnc.symbol:IDI2 semapv:UnspecifiedMatching OMIM:615389 IDI2 skos:exactMatch ncbigene:91734 semapv:UnspecifiedMatching OMIM:615390 vesicoureteral reflux 7 skos:exactMatch MONDO:0014161 semapv:UnspecifiedMatching +OMIM:615390 vesicoureteral reflux 7 skos:exactMatch hgnc.symbol:VUR7 semapv:UnspecifiedMatching OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:30885 semapv:UnspecifiedMatching OMIM:615391 IDI2AS1 skos:exactMatch hgnc.symbol:IDI2-AS1 semapv:UnspecifiedMatching OMIM:615391 IDI2AS1 skos:exactMatch ncbigene:55853 semapv:UnspecifiedMatching @@ -68519,6 +69545,7 @@ OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:25055 semapv:UnspecifiedMatching OMIM:615588 SMDT1 skos:exactMatch hgnc.symbol:SMDT1 semapv:UnspecifiedMatching OMIM:615588 SMDT1 skos:exactMatch ncbigene:91689 semapv:UnspecifiedMatching OMIM:615589 otosclerosis 10 skos:exactMatch MONDO:0014264 semapv:UnspecifiedMatching +OMIM:615589 otosclerosis 10 skos:exactMatch hgnc.symbol:OTSC10 semapv:UnspecifiedMatching OMIM:615590 alzheimer disease 18 skos:exactMatch MONDO:0014265 semapv:UnspecifiedMatching OMIM:615591 macular degeneration, age-related, 15 skos:exactMatch MONDO:0014266 semapv:UnspecifiedMatching OMIM:615592 immunodeficiency 15b skos:exactMatch MONDO:0014267 semapv:UnspecifiedMatching @@ -68568,6 +69595,7 @@ OMIM:615611 CLPX skos:exactMatch hgnc.symbol:2088 semapv:UnspecifiedMatching OMIM:615611 CLPX skos:exactMatch hgnc.symbol:CLPX semapv:UnspecifiedMatching OMIM:615611 CLPX skos:exactMatch ncbigene:10845 semapv:UnspecifiedMatching OMIM:615612 developmental dysplasia of the hip 2 skos:exactMatch MONDO:0014277 semapv:UnspecifiedMatching +OMIM:615612 developmental dysplasia of the hip 2 skos:exactMatch hgnc.symbol:DDH2 semapv:UnspecifiedMatching OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:48612 semapv:UnspecifiedMatching OMIM:615613 HCCAT5 skos:exactMatch hgnc.symbol:HCCAT5 semapv:UnspecifiedMatching OMIM:615613 HCCAT5 skos:exactMatch ncbigene:283902 semapv:UnspecifiedMatching @@ -68656,6 +69684,7 @@ OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:29889 semapv:UnspecifiedMatching OMIM:615648 NLRC3 skos:exactMatch hgnc.symbol:NLRC3 semapv:UnspecifiedMatching OMIM:615648 NLRC3 skos:exactMatch ncbigene:197358 semapv:UnspecifiedMatching OMIM:615649 deafness, autosomal dominant 54 skos:exactMatch MONDO:0014291 semapv:UnspecifiedMatching +OMIM:615649 deafness, autosomal dominant 54 skos:exactMatch hgnc.symbol:DFNA54 semapv:UnspecifiedMatching OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:24499 semapv:UnspecifiedMatching OMIM:615650 RGS22 skos:exactMatch hgnc.symbol:RGS22 semapv:UnspecifiedMatching OMIM:615650 RGS22 skos:exactMatch ncbigene:26166 semapv:UnspecifiedMatching @@ -68717,6 +69746,7 @@ OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch MONDO:0014300 se OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch Orphanet:401768 semapv:UnspecifiedMatching OMIM:615673 myopathy with extrapyramidal signs skos:exactMatch UMLS:C3810285 semapv:UnspecifiedMatching OMIM:615674 dowling-degos disease 3 skos:exactMatch MONDO:0014301 semapv:UnspecifiedMatching +OMIM:615674 dowling-degos disease 3 skos:exactMatch hgnc.symbol:DDD3 semapv:UnspecifiedMatching OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:31622 semapv:UnspecifiedMatching OMIM:615675 MIR301A skos:exactMatch hgnc.symbol:MIR301A semapv:UnspecifiedMatching OMIM:615675 MIR301A skos:exactMatch ncbigene:407027 semapv:UnspecifiedMatching @@ -68771,6 +69801,7 @@ OMIM:615695 HEXIM2 skos:exactMatch hgnc.symbol:HEXIM2 semapv:UnspecifiedMatchin OMIM:615695 HEXIM2 skos:exactMatch ncbigene:124790 semapv:UnspecifiedMatching OMIM:615696 dowling-degos disease 4 skos:exactMatch MONDO:0014307 semapv:UnspecifiedMatching OMIM:615697 epilepsy, familial temporal lobe, 6 skos:exactMatch MONDO:0014308 semapv:UnspecifiedMatching +OMIM:615697 epilepsy, familial temporal lobe, 6 skos:exactMatch hgnc.symbol:ETL6 semapv:UnspecifiedMatching OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:17158 semapv:UnspecifiedMatching OMIM:615698 PLD3 skos:exactMatch hgnc.symbol:PLD3 semapv:UnspecifiedMatching OMIM:615698 PLD3 skos:exactMatch ncbigene:23646 semapv:UnspecifiedMatching @@ -69261,6 +70292,7 @@ OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:24094 semapv:UnspecifiedMatchin OMIM:615891 ZBTB8OS skos:exactMatch hgnc.symbol:ZBTB8OS semapv:UnspecifiedMatching OMIM:615891 ZBTB8OS skos:exactMatch ncbigene:339487 semapv:UnspecifiedMatching OMIM:615892 orofacial cleft 14 skos:exactMatch MONDO:0014388 semapv:UnspecifiedMatching +OMIM:615892 orofacial cleft 14 skos:exactMatch hgnc.symbol:OFC14 semapv:UnspecifiedMatching OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:35422 semapv:UnspecifiedMatching OMIM:615893 NEURL1B skos:exactMatch hgnc.symbol:NEURL1B semapv:UnspecifiedMatching OMIM:615893 NEURL1B skos:exactMatch ncbigene:54492 semapv:UnspecifiedMatching @@ -69600,6 +70632,7 @@ OMIM:616054 ELP2 skos:exactMatch hgnc.symbol:18248 semapv:UnspecifiedMatching OMIM:616054 ELP2 skos:exactMatch hgnc.symbol:ELP2 semapv:UnspecifiedMatching OMIM:616054 ELP2 skos:exactMatch ncbigene:55250 semapv:UnspecifiedMatching OMIM:616055 episodic ataxia, type 8 skos:exactMatch MONDO:0014476 semapv:UnspecifiedMatching +OMIM:616055 episodic ataxia, type 8 skos:exactMatch hgnc.symbol:EA8 semapv:UnspecifiedMatching OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch MONDO:0014477 semapv:UnspecifiedMatching OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch Orphanet:442835 semapv:UnspecifiedMatching OMIM:616056 developmental and epileptic encephalopathy 26 skos:exactMatch UMLS:C4015119 semapv:UnspecifiedMatching @@ -69904,6 +70937,7 @@ OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:22043 semapv:UnspecifiedMatching OMIM:616181 ZNF713 skos:exactMatch hgnc.symbol:ZNF713 semapv:UnspecifiedMatching OMIM:616181 ZNF713 skos:exactMatch ncbigene:349075 semapv:UnspecifiedMatching OMIM:616182 chronic mountain sickness, susceptibility to skos:exactMatch MONDO:0014519 semapv:UnspecifiedMatching +OMIM:616182 chronic mountain sickness, susceptibility to skos:exactMatch hgnc.symbol:CMTS semapv:UnspecifiedMatching OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:28128 semapv:UnspecifiedMatching OMIM:616183 TMEM107 skos:exactMatch hgnc.symbol:TMEM107 semapv:UnspecifiedMatching OMIM:616183 TMEM107 skos:exactMatch ncbigene:84314 semapv:UnspecifiedMatching @@ -70098,6 +71132,7 @@ OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:51525 semapv:UnspecifiedMatching OMIM:616264 MAFTRR skos:exactMatch hgnc.symbol:MAFTRR semapv:UnspecifiedMatching OMIM:616264 MAFTRR skos:exactMatch ncbigene:102467146 semapv:UnspecifiedMatching OMIM:616265 peeling skin syndrome 3 skos:exactMatch MONDO:0014555 semapv:UnspecifiedMatching +OMIM:616265 peeling skin syndrome 3 skos:exactMatch hgnc.symbol:PSS3 semapv:UnspecifiedMatching OMIM:616266 congenital contractures of the limbs and face, hypotonia, and developmental delay skos:exactMatch MONDO:0014556 semapv:UnspecifiedMatching OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch MONDO:0014557 semapv:UnspecifiedMatching OMIM:616267 ataxia-oculomotor apraxia 4 skos:exactMatch Orphanet:459033 semapv:UnspecifiedMatching @@ -70331,6 +71366,7 @@ OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:26167 semapv:UnspecifiedMatchin OMIM:616360 TMEM135 skos:exactMatch hgnc.symbol:TMEM135 semapv:UnspecifiedMatching OMIM:616360 TMEM135 skos:exactMatch ncbigene:65084 semapv:UnspecifiedMatching OMIM:616361 parkinson disease 21 skos:exactMatch MONDO:0014604 semapv:UnspecifiedMatching +OMIM:616361 parkinson disease 21 skos:exactMatch hgnc.symbol:PARK21 semapv:UnspecifiedMatching OMIM:616362 houge-janssens syndrome 2 skos:exactMatch MONDO:0014605 semapv:UnspecifiedMatching OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:23173 semapv:UnspecifiedMatching OMIM:616363 SPRR4 skos:exactMatch hgnc.symbol:SPRR4 semapv:UnspecifiedMatching @@ -71028,6 +72064,7 @@ OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch MONDO: OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch Orphanet:457375 semapv:UnspecifiedMatching OMIM:616647 developmental and epileptic encephalopathy 35 skos:exactMatch UMLS:C4225256 semapv:UnspecifiedMatching OMIM:616648 optic atrophy 8 skos:exactMatch MONDO:0024569 semapv:UnspecifiedMatching +OMIM:616648 optic atrophy 8 skos:exactMatch hgnc.symbol:OPA8 semapv:UnspecifiedMatching OMIM:616649 spherocytosis, type 2 skos:exactMatch MONDO:0000913 semapv:UnspecifiedMatching OMIM:616650 KATNIP skos:exactMatch UMLS:C1825666 semapv:UnspecifiedMatching OMIM:616650 KATNIP skos:exactMatch UMLS:C4084843 semapv:UnspecifiedMatching @@ -71378,6 +72415,7 @@ OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:19405 semapv:UnspecifiedMatching OMIM:616791 PGBD5 skos:exactMatch hgnc.symbol:PGBD5 semapv:UnspecifiedMatching OMIM:616791 PGBD5 skos:exactMatch ncbigene:79605 semapv:UnspecifiedMatching OMIM:616792 neuroblastoma, susceptibility to, 7 skos:exactMatch MONDO:0014774 semapv:UnspecifiedMatching +OMIM:616792 neuroblastoma, susceptibility to, 7 skos:exactMatch hgnc.symbol:NBLST7 semapv:UnspecifiedMatching OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:30040 semapv:UnspecifiedMatching OMIM:616793 PLA2G2F skos:exactMatch hgnc.symbol:PLA2G2F semapv:UnspecifiedMatching OMIM:616793 PLA2G2F skos:exactMatch ncbigene:64600 semapv:UnspecifiedMatching @@ -73049,9 +74087,9 @@ OMIM:617493 neurodevelopmental disorder with involuntary movements skos:exactMat OMIM:617494 EML2 skos:exactMatch hgnc.symbol:18035 semapv:UnspecifiedMatching OMIM:617494 EML2 skos:exactMatch hgnc.symbol:EML2 semapv:UnspecifiedMatching OMIM:617494 EML2 skos:exactMatch ncbigene:24139 semapv:UnspecifiedMatching -OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:21587 semapv:UnspecifiedMatching -OMIM:617495 FAM19A1 skos:exactMatch hgnc.symbol:TAFA1 semapv:UnspecifiedMatching -OMIM:617495 FAM19A1 skos:exactMatch ncbigene:407738 semapv:UnspecifiedMatching +OMIM:617495 TAFA1 skos:exactMatch hgnc.symbol:21587 semapv:UnspecifiedMatching +OMIM:617495 TAFA1 skos:exactMatch hgnc.symbol:TAFA1 semapv:UnspecifiedMatching +OMIM:617495 TAFA1 skos:exactMatch ncbigene:407738 semapv:UnspecifiedMatching OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:21589 semapv:UnspecifiedMatching OMIM:617496 FAM19A2 skos:exactMatch hgnc.symbol:TAFA2 semapv:UnspecifiedMatching OMIM:617496 FAM19A2 skos:exactMatch ncbigene:338811 semapv:UnspecifiedMatching @@ -76569,6 +77607,7 @@ OMIM:618978 TMEM163 skos:exactMatch hgnc.symbol:TMEM163 semapv:UnspecifiedMatch OMIM:618978 TMEM163 skos:exactMatch ncbigene:81615 semapv:UnspecifiedMatching OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch MONDO:0033550 semapv:UnspecifiedMatching OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch UMLS:C3888126 semapv:UnspecifiedMatching +OMIM:618979 high density lipoprotein cholesterol level quantitative trait locus 7 skos:exactMatch hgnc.symbol:HDLCQ7 semapv:UnspecifiedMatching OMIM:618980 CEP112 skos:exactMatch UMLS:C1824570 semapv:UnspecifiedMatching OMIM:618980 CEP112 skos:exactMatch UMLS:C5436678 semapv:UnspecifiedMatching OMIM:618980 CEP112 skos:exactMatch hgnc.symbol:28514 semapv:UnspecifiedMatching @@ -77140,7 +78179,7 @@ OMIM:619171 GUCD1 skos:exactMatch hgnc.symbol:14237 semapv:UnspecifiedMatching OMIM:619171 GUCD1 skos:exactMatch hgnc.symbol:GUCD1 semapv:UnspecifiedMatching OMIM:619171 GUCD1 skos:exactMatch ncbigene:83606 semapv:UnspecifiedMatching OMIM:619172 hermansky-pudlak syndrome 11 skos:exactMatch MONDO:0030903 semapv:UnspecifiedMatching -OMIM:619173 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities skos:exactMatch MONDO:0030947 semapv:UnspecifiedMatching +OMIM:619173 ceroid lipofuscinosis, neuronal, 15 skos:exactMatch MONDO:0030947 semapv:UnspecifiedMatching OMIM:619174 deafness, autosomal recessive 117 skos:exactMatch MONDO:0030905 semapv:UnspecifiedMatching OMIM:619175 proteasome-associated autoinflammatory syndrome 5 skos:exactMatch MONDO:0030924 semapv:UnspecifiedMatching OMIM:619176 oocyte/zygote/embryo maturation arrest 10 skos:exactMatch MONDO:0030925 semapv:UnspecifiedMatching @@ -79487,6 +80526,7 @@ OMIM:620377 ARMC12 skos:exactMatch hgnc.symbol:21099 semapv:UnspecifiedMatching OMIM:620377 ARMC12 skos:exactMatch hgnc.symbol:ARMC12 semapv:UnspecifiedMatching OMIM:620377 ARMC12 skos:exactMatch ncbigene:221481 semapv:UnspecifiedMatching OMIM:620378 charcot-marie-tooth disease, dominant intermediate a skos:exactMatch MONDO:0957273 semapv:UnspecifiedMatching +OMIM:620378 charcot-marie-tooth disease, dominant intermediate a skos:exactMatch hgnc.symbol:CMTD1A semapv:UnspecifiedMatching OMIM:620379 spastic paraplegia 89, autosomal recessive skos:exactMatch MONDO:0957274 semapv:UnspecifiedMatching OMIM:620380 LETM2 skos:exactMatch hgnc.symbol:14648 semapv:UnspecifiedMatching OMIM:620380 LETM2 skos:exactMatch hgnc.symbol:LETM2 semapv:UnspecifiedMatching @@ -79976,6 +81016,7 @@ OMIM:620605 CYP27C1 skos:exactMatch hgnc.symbol:33480 semapv:UnspecifiedMatchin OMIM:620605 CYP27C1 skos:exactMatch hgnc.symbol:CYP27C1 semapv:UnspecifiedMatching OMIM:620605 CYP27C1 skos:exactMatch ncbigene:339761 semapv:UnspecifiedMatching OMIM:620606 spastic paraplegia 72b, autosomal recessive skos:exactMatch MONDO:0957958 semapv:UnspecifiedMatching +OMIM:620607 spastic paraplegia 30b, autosomal recessive skos:exactMatch MONDO:0971149 semapv:UnspecifiedMatching OMIM:620608 TEX264 skos:exactMatch hgnc.symbol:30247 semapv:UnspecifiedMatching OMIM:620608 TEX264 skos:exactMatch hgnc.symbol:TEX264 semapv:UnspecifiedMatching OMIM:620608 TEX264 skos:exactMatch ncbigene:51368 semapv:UnspecifiedMatching @@ -80357,6 +81398,7 @@ OMIM:620791 CEP76 skos:exactMatch hgnc.symbol:25727 semapv:UnspecifiedMatching OMIM:620791 CEP76 skos:exactMatch hgnc.symbol:CEP76 semapv:UnspecifiedMatching OMIM:620791 CEP76 skos:exactMatch ncbigene:79959 semapv:UnspecifiedMatching OMIM:620792 otosclerosis 12 skos:exactMatch MONDO:0968980 semapv:UnspecifiedMatching +OMIM:620793 muscular dystrophy, limb-girdle, autosomal recessive 29 skos:exactMatch MONDO:0971171 semapv:UnspecifiedMatching OMIM:620794 deafness, autosomal recessive 124 skos:exactMatch MONDO:0968981 semapv:UnspecifiedMatching OMIM:620795 autoinflammation with episodic fever and immune dysregulation skos:exactMatch MONDO:0968982 semapv:UnspecifiedMatching OMIM:620796 proteasome-associated autoinflammatory syndrome 6 skos:exactMatch MONDO:0968983 semapv:UnspecifiedMatching @@ -80485,10 +81527,12 @@ OMIM:620847 BMP8A skos:exactMatch ncbigene:353500 semapv:UnspecifiedMatching OMIM:620848 spermatogenic failure 92 skos:exactMatch MONDO:0970999 semapv:UnspecifiedMatching OMIM:620849 spermatogenic failure 93 skos:exactMatch MONDO:0971000 semapv:UnspecifiedMatching OMIM:620850 spermatogenic failure 94 skos:exactMatch MONDO:0971002 semapv:UnspecifiedMatching +OMIM:620851 renu syndrome skos:exactMatch MONDO:0971172 semapv:UnspecifiedMatching OMIM:620852 neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities skos:exactMatch MONDO:0971043 semapv:UnspecifiedMatching OMIM:620853 ANKFN1 skos:exactMatch hgnc.symbol:26766 semapv:UnspecifiedMatching OMIM:620853 ANKFN1 skos:exactMatch hgnc.symbol:ANKFN1 semapv:UnspecifiedMatching OMIM:620853 ANKFN1 skos:exactMatch ncbigene:162282 semapv:UnspecifiedMatching +OMIM:620854 neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity skos:exactMatch MONDO:0971150 semapv:UnspecifiedMatching OMIM:620855 GPR155 skos:exactMatch hgnc.symbol:22951 semapv:UnspecifiedMatching OMIM:620855 GPR155 skos:exactMatch hgnc.symbol:GPR155 semapv:UnspecifiedMatching OMIM:620855 GPR155 skos:exactMatch ncbigene:151556 semapv:UnspecifiedMatching @@ -80529,6 +81573,7 @@ OMIM:620867 ARMH3 skos:exactMatch ncbigene:79591 semapv:UnspecifiedMatching OMIM:620868 ARID3C skos:exactMatch hgnc.symbol:21209 semapv:UnspecifiedMatching OMIM:620868 ARID3C skos:exactMatch hgnc.symbol:ARID3C semapv:UnspecifiedMatching OMIM:620868 ARID3C skos:exactMatch ncbigene:138715 semapv:UnspecifiedMatching +OMIM:620869 immunodeficiency 122 skos:exactMatch MONDO:0971151 semapv:UnspecifiedMatching OMIM:620870 DDI1 skos:exactMatch hgnc.symbol:18961 semapv:UnspecifiedMatching OMIM:620870 DDI1 skos:exactMatch hgnc.symbol:DDI1 semapv:UnspecifiedMatching OMIM:620870 DDI1 skos:exactMatch ncbigene:414301 semapv:UnspecifiedMatching @@ -80549,12 +81594,14 @@ OMIM:620875 FICD skos:exactMatch ncbigene:11153 semapv:UnspecifiedMatching OMIM:620876 HECTD2 skos:exactMatch hgnc.symbol:26736 semapv:UnspecifiedMatching OMIM:620876 HECTD2 skos:exactMatch hgnc.symbol:HECTD2 semapv:UnspecifiedMatching OMIM:620876 HECTD2 skos:exactMatch ncbigene:143279 semapv:UnspecifiedMatching +OMIM:620877 deafness, autosomal recessive 125 skos:exactMatch MONDO:0971152 semapv:UnspecifiedMatching OMIM:620878 INTS14 skos:exactMatch hgnc.symbol:25372 semapv:UnspecifiedMatching OMIM:620878 INTS14 skos:exactMatch hgnc.symbol:INTS14 semapv:UnspecifiedMatching OMIM:620878 INTS14 skos:exactMatch ncbigene:81556 semapv:UnspecifiedMatching OMIM:620879 FGFBP3 skos:exactMatch hgnc.symbol:23428 semapv:UnspecifiedMatching OMIM:620879 FGFBP3 skos:exactMatch hgnc.symbol:FGFBP3 semapv:UnspecifiedMatching OMIM:620879 FGFBP3 skos:exactMatch ncbigene:143282 semapv:UnspecifiedMatching +OMIM:620880 autoinflammation with arthritis and vasculitis skos:exactMatch MONDO:0971173 semapv:UnspecifiedMatching OMIM:620881 CCER1 skos:exactMatch hgnc.symbol:28373 semapv:UnspecifiedMatching OMIM:620881 CCER1 skos:exactMatch hgnc.symbol:CCER1 semapv:UnspecifiedMatching OMIM:620881 CCER1 skos:exactMatch ncbigene:196477 semapv:UnspecifiedMatching @@ -80573,6 +81620,7 @@ OMIM:620885 TRMT61A skos:exactMatch ncbigene:115708 semapv:UnspecifiedMatching OMIM:620886 TRMT6 skos:exactMatch hgnc.symbol:20900 semapv:UnspecifiedMatching OMIM:620886 TRMT6 skos:exactMatch hgnc.symbol:TRMT6 semapv:UnspecifiedMatching OMIM:620886 TRMT6 skos:exactMatch ncbigene:51605 semapv:UnspecifiedMatching +OMIM:620887 multiple mitochondrial dysfunctions syndrome 9b skos:exactMatch MONDO:0971174 semapv:UnspecifiedMatching OMIM:620889 FHAD1 skos:exactMatch hgnc.symbol:29408 semapv:UnspecifiedMatching OMIM:620889 FHAD1 skos:exactMatch hgnc.symbol:FHAD1 semapv:UnspecifiedMatching OMIM:620889 FHAD1 skos:exactMatch ncbigene:114827 semapv:UnspecifiedMatching @@ -80588,22 +81636,27 @@ OMIM:620892 CBY3 skos:exactMatch ncbigene:646019 semapv:UnspecifiedMatching OMIM:620893 IPO9 skos:exactMatch hgnc.symbol:19425 semapv:UnspecifiedMatching OMIM:620893 IPO9 skos:exactMatch hgnc.symbol:IPO9 semapv:UnspecifiedMatching OMIM:620893 IPO9 skos:exactMatch ncbigene:55705 semapv:UnspecifiedMatching +OMIM:620894 cardiomyopathy, dilated, 2k skos:exactMatch MONDO:0971175 semapv:UnspecifiedMatching OMIM:620895 ERICH5 skos:exactMatch hgnc.symbol:26823 semapv:UnspecifiedMatching OMIM:620895 ERICH5 skos:exactMatch hgnc.symbol:ERICH5 semapv:UnspecifiedMatching OMIM:620895 ERICH5 skos:exactMatch ncbigene:203111 semapv:UnspecifiedMatching OMIM:620896 LRRC42 skos:exactMatch hgnc.symbol:28792 semapv:UnspecifiedMatching OMIM:620896 LRRC42 skos:exactMatch hgnc.symbol:LRRC42 semapv:UnspecifiedMatching OMIM:620896 LRRC42 skos:exactMatch ncbigene:115353 semapv:UnspecifiedMatching +OMIM:620897 ovarian dysgenesis 11 skos:exactMatch MONDO:0971176 semapv:UnspecifiedMatching OMIM:620898 MIR7-2 skos:exactMatch hgnc.symbol:31639 semapv:UnspecifiedMatching OMIM:620898 MIR7-2 skos:exactMatch hgnc.symbol:MIR7-2 semapv:UnspecifiedMatching OMIM:620898 MIR7-2 skos:exactMatch ncbigene:407044 semapv:UnspecifiedMatching OMIM:620899 MIR1179 skos:exactMatch hgnc.symbol:35260 semapv:UnspecifiedMatching OMIM:620899 MIR1179 skos:exactMatch hgnc.symbol:MIR1179 semapv:UnspecifiedMatching OMIM:620899 MIR1179 skos:exactMatch ncbigene:100302235 semapv:UnspecifiedMatching +OMIM:620900 STRTS skos:exactMatch hgnc.symbol:STRTS semapv:UnspecifiedMatching OMIM:620900 STRTS skos:exactMatch ncbigene:136932118 semapv:UnspecifiedMatching +OMIM:620901 immunodeficiency 123 with hpv-related verrucosis skos:exactMatch MONDO:0971177 semapv:UnspecifiedMatching OMIM:620902 TNRC18 skos:exactMatch hgnc.symbol:11962 semapv:UnspecifiedMatching OMIM:620902 TNRC18 skos:exactMatch hgnc.symbol:TNRC18 semapv:UnspecifiedMatching OMIM:620902 TNRC18 skos:exactMatch ncbigene:84629 semapv:UnspecifiedMatching +OMIM:620903 polycystic kidney disease 8 skos:exactMatch MONDO:0971178 semapv:UnspecifiedMatching OMIM:620904 FAM98A skos:exactMatch hgnc.symbol:24520 semapv:UnspecifiedMatching OMIM:620904 FAM98A skos:exactMatch hgnc.symbol:FAM98A semapv:UnspecifiedMatching OMIM:620904 FAM98A skos:exactMatch ncbigene:25940 semapv:UnspecifiedMatching @@ -80616,6 +81669,7 @@ OMIM:620906 MBLAC1 skos:exactMatch ncbigene:255374 semapv:UnspecifiedMatching OMIM:620907 MBLAC2 skos:exactMatch hgnc.symbol:33711 semapv:UnspecifiedMatching OMIM:620907 MBLAC2 skos:exactMatch hgnc.symbol:MBLAC2 semapv:UnspecifiedMatching OMIM:620907 MBLAC2 skos:exactMatch ncbigene:153364 semapv:UnspecifiedMatching +OMIM:620908 arterial tortuosity-bone fragility syndrome skos:exactMatch MONDO:0971179 semapv:UnspecifiedMatching OMIM:620909 KLC4 skos:exactMatch hgnc.symbol:21624 semapv:UnspecifiedMatching OMIM:620909 KLC4 skos:exactMatch hgnc.symbol:KLC4 semapv:UnspecifiedMatching OMIM:620909 KLC4 skos:exactMatch ncbigene:89953 semapv:UnspecifiedMatching @@ -80667,6 +81721,21 @@ OMIM:620929 MOB3A skos:exactMatch ncbigene:126308 semapv:UnspecifiedMatching OMIM:620930 MROH2B skos:exactMatch hgnc.symbol:26857 semapv:UnspecifiedMatching OMIM:620930 MROH2B skos:exactMatch hgnc.symbol:MROH2B semapv:UnspecifiedMatching OMIM:620930 MROH2B skos:exactMatch ncbigene:133558 semapv:UnspecifiedMatching +OMIM:620932 ZSCAN29 skos:exactMatch hgnc.symbol:26673 semapv:UnspecifiedMatching +OMIM:620932 ZSCAN29 skos:exactMatch hgnc.symbol:ZSCAN29 semapv:UnspecifiedMatching +OMIM:620932 ZSCAN29 skos:exactMatch ncbigene:146050 semapv:UnspecifiedMatching +OMIM:620933 PNMA8A skos:exactMatch hgnc.symbol:25578 semapv:UnspecifiedMatching +OMIM:620933 PNMA8A skos:exactMatch hgnc.symbol:PNMA8A semapv:UnspecifiedMatching +OMIM:620933 PNMA8A skos:exactMatch ncbigene:55228 semapv:UnspecifiedMatching +OMIM:620934 PNMA8C skos:exactMatch hgnc.symbol:53427 semapv:UnspecifiedMatching +OMIM:620934 PNMA8C skos:exactMatch hgnc.symbol:PNMA8C semapv:UnspecifiedMatching +OMIM:620934 PNMA8C skos:exactMatch ncbigene:110806277 semapv:UnspecifiedMatching +OMIM:620935 TEX9 skos:exactMatch hgnc.symbol:29585 semapv:UnspecifiedMatching +OMIM:620935 TEX9 skos:exactMatch hgnc.symbol:TEX9 semapv:UnspecifiedMatching +OMIM:620935 TEX9 skos:exactMatch ncbigene:374618 semapv:UnspecifiedMatching +OMIM:620936 WDR27 skos:exactMatch hgnc.symbol:21248 semapv:UnspecifiedMatching +OMIM:620936 WDR27 skos:exactMatch hgnc.symbol:WDR27 semapv:UnspecifiedMatching +OMIM:620936 WDR27 skos:exactMatch ncbigene:253769 semapv:UnspecifiedMatching omim.ps:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching omim.ps:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching omim.ps:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching @@ -80842,6 +81911,7 @@ omim.ps:176400 Precocious puberty, central skos:exactMatch MONDO:0019165 semapv omim.ps:176670 Progeria skos:exactMatch MONDO:0020732 semapv:UnspecifiedMatching omim.ps:177000 Protoporphyria, erythropoietic skos:exactMatch MONDO:0001676 semapv:UnspecifiedMatching omim.ps:177200 Liddle syndrome skos:exactMatch MONDO:0008323 semapv:UnspecifiedMatching +omim.ps:177735 Pseudohypoaldosteronism, type I skos:exactMatch MONDO:0019161 semapv:UnspecifiedMatching omim.ps:177900 Psoriasis skos:exactMatch MONDO:0005083 semapv:UnspecifiedMatching omim.ps:178110 Contractures, pterygia, and variable skeletal fusions syndrome skos:exactMatch MONDO:0020937 semapv:UnspecifiedMatching omim.ps:178600 Pulmonary hypertension, primary (see also hereditary hemorrhagic telangiectasia ({PS187300}) skos:exactMatch MONDO:0017148 semapv:UnspecifiedMatching @@ -81037,6 +82107,7 @@ omim.ps:272430 Cold-induced sweating syndrome skos:exactMatch MONDO:0015526 sem omim.ps:273395 Tetraamelia syndrome skos:exactMatch MONDO:0010110 semapv:UnspecifiedMatching omim.ps:273750 Three M syndrome skos:exactMatch MONDO:0007477 semapv:UnspecifiedMatching omim.ps:273800 Glanzmann thrombasthenia skos:exactMatch MONDO:0100326 semapv:UnspecifiedMatching +omim.ps:274400 Thyroid dyshormonogenesis skos:exactMatch MONDO:0010132 semapv:UnspecifiedMatching omim.ps:275200 Hypothyroidism, congenital, nongoitrous skos:exactMatch MONDO:0000045 semapv:UnspecifiedMatching omim.ps:275210 Restrictive dermopathy skos:exactMatch MONDO:0031213 semapv:UnspecifiedMatching omim.ps:276300 Mismatch repair cancer syndrome skos:exactMatch MONDO:0031219 semapv:UnspecifiedMatching @@ -81118,7 +82189,7 @@ omim.ps:602588 Branchiootic syndrome skos:exactMatch MONDO:0018878 semapv:Unspe omim.ps:602875 Acromesomelic dysplasia skos:exactMatch MONDO:0019696 semapv:UnspecifiedMatching omim.ps:603041 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 semapv:UnspecifiedMatching omim.ps:603075 Macular degeneration, age-related skos:exactMatch MONDO:0005150 semapv:UnspecifiedMatching -omim.ps:603165 Dermatitis, atopic skos:exactMatch MONDO:0004980 semapv:UnspecifiedMatching +omim.ps:603165 Dermatitis, atopic skos:exactMatch MONDO:0100178 semapv:UnspecifiedMatching omim.ps:603278 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 semapv:UnspecifiedMatching omim.ps:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome skos:exactMatch MONDO:0019375 semapv:UnspecifiedMatching omim.ps:603511 Muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch MONDO:0015151 semapv:UnspecifiedMatching diff --git a/src/ontology/external/mondo-omim-genes.robot.owl b/src/ontology/external/mondo-omim-genes.robot.owl index 236cfa22..8f151e05 100644 --- a/src/ontology/external/mondo-omim-genes.robot.owl +++ b/src/ontology/external/mondo-omim-genes.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -106,6 +106,12 @@ + + + + + + @@ -3430,6 +3436,12 @@ + + + + + + @@ -4786,6 +4798,12 @@ + + + + + + @@ -7834,6 +7852,12 @@ + + + + + + @@ -11578,6 +11602,12 @@ + + + + + + @@ -13726,6 +13756,12 @@ + + + + + + @@ -14692,6 +14728,12 @@ + + + + + + @@ -14914,6 +14956,12 @@ + + + + + + @@ -27622,19 +27670,37 @@ - + - + + + + + + + + + OMIM:267430 + + + + + + + + + + - + OMIM:267500 @@ -27643,16 +27709,16 @@ - + - + - + OMIM:268200 @@ -27661,16 +27727,16 @@ - + - + - + OMIM:268220 @@ -27679,16 +27745,16 @@ - + - + - + OMIM:268305 @@ -27697,16 +27763,16 @@ - + - + - + OMIM:268800 @@ -27715,16 +27781,16 @@ - + - + - + OMIM:268900 @@ -27733,16 +27799,16 @@ - + - + - + OMIM:269160 @@ -27751,16 +27817,16 @@ - + - + - + OMIM:269250 @@ -27769,16 +27835,16 @@ - + - + - + OMIM:269400 @@ -27787,16 +27853,16 @@ - + - + - + OMIM:270200 @@ -27805,16 +27871,16 @@ - + - + - + OMIM:270400 @@ -27823,16 +27889,16 @@ - + - + - + OMIM:270420 @@ -27841,16 +27907,16 @@ - + - + - + OMIM:270450 @@ -27859,16 +27925,16 @@ - + - + - + OMIM:270550 @@ -27877,16 +27943,16 @@ - + - + - + OMIM:270700 @@ -27895,16 +27961,16 @@ - + - + - + OMIM:271400 @@ -27913,16 +27979,16 @@ - + - + - + OMIM:271510 @@ -27931,16 +27997,16 @@ - + - + - + OMIM:271900 @@ -27949,16 +28015,16 @@ - + - + - + OMIM:271930 @@ -27967,16 +28033,16 @@ - + - + - + OMIM:271980 @@ -27985,16 +28051,16 @@ - + - + - + OMIM:272200 @@ -28003,16 +28069,16 @@ - + - + - + OMIM:272300 @@ -28021,16 +28087,16 @@ - + - + - + OMIM:272430 @@ -28039,16 +28105,16 @@ - + - + - + OMIM:272440 @@ -28057,16 +28123,16 @@ - + - + - + OMIM:272750 @@ -28075,16 +28141,16 @@ - + - + - + OMIM:273750 @@ -28093,16 +28159,16 @@ - + - + - + OMIM:273900 @@ -28111,16 +28177,16 @@ - + - + - + OMIM:274000 @@ -28129,16 +28195,16 @@ - + - + - + OMIM:274150 @@ -28147,16 +28213,16 @@ - + - + - + OMIM:274500 @@ -28165,16 +28231,16 @@ - + - + - + OMIM:274800 @@ -28183,16 +28249,16 @@ - + - + - + OMIM:274900 @@ -28201,16 +28267,16 @@ - + - + - + OMIM:275100 @@ -28219,16 +28285,16 @@ - + - + - + OMIM:275350 @@ -28237,16 +28303,16 @@ - + - + - + OMIM:275630 @@ -28255,16 +28321,16 @@ - + - + - + OMIM:275900 @@ -28273,16 +28339,16 @@ - + - + - + OMIM:276600 @@ -28291,16 +28357,16 @@ - + - + - + OMIM:276700 @@ -28309,16 +28375,16 @@ - + - + - + OMIM:276880 @@ -28327,16 +28393,16 @@ - + - + - + OMIM:277380 @@ -28345,16 +28411,16 @@ - + - + - + OMIM:277440 @@ -28363,16 +28429,16 @@ - + - + - + OMIM:277460 @@ -28381,16 +28447,16 @@ - + - + - + OMIM:277590 @@ -28399,16 +28465,16 @@ - + - + - + OMIM:277600 @@ -28417,16 +28483,16 @@ - + - + - + OMIM:277700 @@ -28435,16 +28501,16 @@ - + - + - + OMIM:277900 @@ -28453,16 +28519,16 @@ - + - + - + OMIM:277950 @@ -28471,16 +28537,16 @@ - + - + - + OMIM:278300 @@ -28489,16 +28555,16 @@ - + - + - + OMIM:278700 @@ -28507,16 +28573,16 @@ - + - + - + OMIM:278720 @@ -28525,16 +28591,16 @@ - + - + - + OMIM:278740 @@ -28543,16 +28609,16 @@ - + - + - + OMIM:278750 @@ -28561,16 +28627,16 @@ - + - + - + OMIM:280000 @@ -28579,16 +28645,16 @@ - + - + - + OMIM:300000 @@ -28597,16 +28663,16 @@ - + - + - + OMIM:300088 @@ -28615,16 +28681,16 @@ - + - + - + OMIM:300114 @@ -28633,16 +28699,16 @@ - + - + - + OMIM:300143 @@ -28651,16 +28717,16 @@ - + - + - + OMIM:300148 @@ -28669,16 +28735,16 @@ - + - + - + OMIM:300166 @@ -28687,16 +28753,16 @@ - + - + - + OMIM:300210 @@ -28705,16 +28771,16 @@ - + - + - + OMIM:300243 @@ -28723,16 +28789,16 @@ - + - + - + OMIM:300257 @@ -28741,16 +28807,16 @@ - + - + - + OMIM:300261 @@ -28759,16 +28825,16 @@ - + - + - + OMIM:300263 @@ -28777,16 +28843,16 @@ - + - + - + OMIM:300310 @@ -28795,16 +28861,16 @@ - + - + - + OMIM:300352 @@ -28813,16 +28879,16 @@ - + - + - + OMIM:300354 @@ -28831,16 +28897,16 @@ - + - + - + OMIM:300373 @@ -28849,16 +28915,16 @@ 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- + - + - + OMIM:300983 @@ -29947,16 +30013,16 @@ - + - + - + OMIM:300984 @@ -29965,16 +30031,16 @@ - + - + - + OMIM:300985 @@ -29983,16 +30049,16 @@ - + - + - + OMIM:300986 @@ -30001,16 +30067,16 @@ - + - + - + OMIM:300988 @@ -30019,16 +30085,16 @@ - + - + - + OMIM:300990 @@ -30037,16 +30103,16 @@ - + - + - + OMIM:300991 @@ -30055,16 +30121,16 @@ - + - + - + OMIM:301050 @@ -30073,16 +30139,16 @@ - + - + - + OMIM:301200 @@ -30091,16 +30157,16 @@ - + - + - + OMIM:301310 @@ -30109,16 +30175,16 @@ - + - + - + OMIM:301900 @@ -30127,16 +30193,16 @@ - + - + - + OMIM:302060 @@ -30145,16 +30211,16 @@ - + - + - + OMIM:302500 @@ -30163,16 +30229,16 @@ - + - + - + OMIM:302800 @@ -30181,16 +30247,16 @@ - + - + - + OMIM:302950 @@ -30199,16 +30265,16 @@ - + - + - + OMIM:303100 @@ -30217,16 +30283,16 @@ - + - + - + OMIM:304110 @@ -30235,16 +30301,16 @@ - + - + - + OMIM:304340 @@ -30253,16 +30319,16 @@ - + - + - + OMIM:304400 @@ -30271,16 +30337,16 @@ - + - + - + OMIM:304700 @@ -30289,16 +30355,16 @@ 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- + - + - + OMIM:620448 @@ -76387,16 +76453,16 @@ - + - + - + OMIM:620449 @@ -76405,16 +76471,16 @@ - + - + - + OMIM:620450 @@ -76423,16 +76489,16 @@ - + - + - + OMIM:620451 @@ -76441,16 +76507,16 @@ - + - + - + OMIM:620454 @@ -76459,16 +76525,16 @@ - + - + - + OMIM:620455 @@ -76477,16 +76543,16 @@ - + - + - + OMIM:620457 @@ -76495,16 +76561,16 @@ - + - + - + OMIM:620462 @@ -76513,16 +76579,16 @@ - + - + - + OMIM:620461 @@ -76531,16 +76597,16 @@ - + - + - + OMIM:620469 @@ -76549,16 +76615,16 @@ - + - + - + OMIM:620482 @@ -76567,16 +76633,16 @@ - + - + - + OMIM:620486 @@ -76585,16 +76651,16 @@ - + - + - + OMIM:620489 @@ -76603,16 +76669,16 @@ - + - + - + OMIM:620490 @@ -76621,16 +76687,16 @@ - + - + - + OMIM:620494 @@ -76639,16 +76705,16 @@ - + - + - + OMIM:620499 @@ -76657,16 +76723,16 @@ - + - + - + OMIM:620500 @@ -76675,16 +76741,16 @@ - + - + - + OMIM:620501 @@ -76693,16 +76759,16 @@ - + - + - + OMIM:620502 @@ -76711,16 +76777,16 @@ - + - + - + OMIM:620507 @@ -76729,16 +76795,16 @@ - + - + - + OMIM:620511 @@ -76747,16 +76813,16 @@ - + - + - + OMIM:620514 @@ -76765,16 +76831,16 @@ - + - + - + OMIM:620515 @@ -76783,16 +76849,16 @@ - + - + - + OMIM:620519 @@ -76801,16 +76867,16 @@ - + - + - + OMIM:620532 @@ -76819,16 +76885,16 @@ - + - + - + OMIM:620534 @@ -76837,16 +76903,16 @@ - + - + - + OMIM:620535 @@ -76855,16 +76921,16 @@ - + - + - + OMIM:620537 @@ -76873,16 +76939,16 @@ - + - + - + OMIM:620545 @@ -76891,16 +76957,16 @@ - + - + - + OMIM:620546 @@ -76909,16 +76975,16 @@ - + - + - + OMIM:620550 @@ -76927,16 +76993,16 @@ - + - + - + OMIM:620551 @@ -76945,16 +77011,16 @@ - + - + - + OMIM:620312 @@ -76963,16 +77029,16 @@ - + - + - + OMIM:620313 @@ -76981,16 +77047,16 @@ - + - + - + OMIM:620314 @@ -76999,16 +77065,16 @@ - + - + - + OMIM:620315 @@ -77017,16 +77083,16 @@ - + - + - + OMIM:301114 @@ -77035,16 +77101,16 @@ - + - + - + OMIM:620565 @@ -77053,16 +77119,16 @@ - + - + - + OMIM:620568 @@ -77071,16 +77137,16 @@ - + - + - + OMIM:620570 @@ -77089,16 +77155,16 @@ - + - + - + OMIM:620576 @@ -77107,16 +77173,16 @@ - + - + - + OMIM:620583 @@ -77125,16 +77191,16 @@ - + - + - + OMIM:620601 @@ -77143,16 +77209,16 @@ - + - + - + OMIM:620602 @@ -77161,16 +77227,16 @@ - + - + - + OMIM:620609 @@ -77179,16 +77245,16 @@ - + - + - + OMIM:620610 @@ -77197,16 +77263,16 @@ - + - + - + OMIM:620632 @@ -77215,16 +77281,16 @@ - + - + - + OMIM:620635 @@ -77233,16 +77299,16 @@ - + - + - + OMIM:620639 @@ -77251,16 +77317,16 @@ - + - + - + OMIM:620641 @@ -77269,16 +77335,16 @@ - + - + - + OMIM:620642 @@ -77287,16 +77353,16 @@ - + - + - + OMIM:620646 @@ -77305,16 +77371,16 @@ - + - + - + OMIM:620647 @@ -77323,16 +77389,16 @@ - + - + - + OMIM:620651 @@ -77341,16 +77407,16 @@ - + - + - + OMIM:620653 @@ -77359,16 +77425,16 @@ - + - + - + OMIM:620654 @@ -77377,16 +77443,16 @@ - + - + - + OMIM:620655 @@ -77395,16 +77461,16 @@ - + - + - + OMIM:620679 @@ -77413,16 +77479,16 @@ - + - + - + OMIM:301115 @@ -77431,16 +77497,16 @@ - + - + - + OMIM:620683 @@ -77449,16 +77515,16 @@ - + - + - + OMIM:616863 @@ -77467,16 +77533,16 @@ - + - + - + OMIM:164210 @@ -77485,16 +77551,16 @@ - + - + - + OMIM:164300 @@ -77503,16 +77569,16 @@ - + - + - + OMIM:259680 @@ -77521,16 +77587,16 @@ - + - + - + OMIM:605899 @@ -77539,16 +77605,16 @@ - + - + - + OMIM:608415 @@ -77557,16 +77623,16 @@ - + - + - + OMIM:613652 @@ -77575,16 +77641,16 @@ - + - + - + OMIM:619382 @@ -77593,16 +77659,16 @@ - + - + - + OMIM:620300 @@ -77611,16 +77677,16 @@ - + - + - + OMIM:620321 @@ -77629,16 +77695,16 @@ - + - + - + OMIM:620322 @@ -77647,16 +77713,16 @@ - + - + - + OMIM:620344 @@ -77665,16 +77731,16 @@ - + - + - + OMIM:620374 @@ -77683,16 +77749,16 @@ - + - + - + OMIM:620398 @@ -77701,16 +77767,16 @@ - + - + - + OMIM:620444 @@ -77719,16 +77785,16 @@ - + - + - + OMIM:620465 @@ -77737,16 +77803,16 @@ - + - + - + OMIM:254780 @@ -77755,16 +77821,16 @@ - + - + - + OMIM:301116 @@ -77773,16 +77839,16 @@ - + - + - + OMIM:620688 @@ -77791,16 +77857,16 @@ - + - + - + OMIM:620700 @@ -77809,16 +77875,16 @@ - + - + - + OMIM:620703 @@ -77827,16 +77893,16 @@ - + - + - + OMIM:620705 @@ -77845,16 +77911,16 @@ - + - + - + OMIM:620714 @@ -77863,16 +77929,16 @@ - + - + - + OMIM:620715 @@ -77881,16 +77947,16 @@ - + - + - + OMIM:620718 @@ -77899,16 +77965,16 @@ - + - + - + OMIM:620729 @@ -77917,16 +77983,16 @@ - + - + - + OMIM:620730 @@ -77935,16 +78001,16 @@ - + - + - + OMIM:620731 @@ -77953,16 +78019,16 @@ - + - + - + OMIM:620732 @@ -77971,16 +78037,16 @@ - + - + - + OMIM:620744 @@ -77989,16 +78055,16 @@ - + - + - + OMIM:620745 @@ -78007,16 +78073,16 @@ - + - + - + OMIM:620746 @@ -78025,16 +78091,16 @@ - + - + - + OMIM:301118 @@ -78043,16 +78109,16 @@ - + - + - + OMIM:620747 @@ -78061,16 +78127,16 @@ - + - + - + OMIM:620762 @@ -78079,16 +78145,16 @@ - + - + - + OMIM:620767 @@ -78097,16 +78163,16 @@ - + - + - + OMIM:620772 @@ -78115,16 +78181,16 @@ - + - + - + OMIM:620775 @@ -78133,16 +78199,16 @@ - + - + - + OMIM:620777 @@ -78151,16 +78217,16 @@ - + - + - + OMIM:620779 @@ -78169,16 +78235,16 @@ - + - + - + OMIM:620785 @@ -78187,16 +78253,16 @@ - + - + - + OMIM:620786 @@ -78205,16 +78271,16 @@ - + - + - + OMIM:620789 @@ -78223,16 +78289,16 @@ - + - + - + OMIM:620790 @@ -78241,16 +78307,16 @@ - + - + - + OMIM:620794 @@ -78259,16 +78325,16 @@ - + - + - + OMIM:620795 @@ -78277,16 +78343,16 @@ - + - + - + OMIM:620796 @@ -78295,16 +78361,16 @@ - + - + - + OMIM:301119 @@ -78313,16 +78379,16 @@ - + - + - + OMIM:620820 @@ -78331,16 +78397,16 @@ - + - + - + OMIM:620838 @@ -78349,16 +78415,16 @@ - + - + - + OMIM:620825 @@ -78367,16 +78433,16 @@ - + - + - + OMIM:620840 @@ -78385,16 +78451,16 @@ - + - + - + OMIM:620830 @@ -78403,16 +78469,16 @@ - + - + - + OMIM:620848 @@ -78421,16 +78487,16 @@ - + - + - + OMIM:620849 @@ -78439,16 +78505,16 @@ - + - + - + OMIM:620850 @@ -78457,16 +78523,16 @@ - + - + - + OMIM:604571 @@ -78475,16 +78541,16 @@ - + - + - + OMIM:619539 @@ -78493,16 +78559,16 @@ - + - + - + OMIM:620658 @@ -78511,16 +78577,16 @@ - + - + - + OMIM:620813 @@ -78529,16 +78595,16 @@ - + - + - + OMIM:620814 @@ -78547,16 +78613,16 @@ - + - + - + OMIM:620815 @@ -78565,16 +78631,16 @@ - + - + - + OMIM:620817 @@ -78583,34 +78649,160 @@ - + - + - + OMIM:620852 + + + + + + + + + + + + + + OMIM:620869 + + + + + + + + + + + + + + + + + + OMIM:620877 + + + + + + + + + + + + + + + + + + OMIM:620793 + + + + + + + + + + + + + + + + + + OMIM:620851 + + + + + + + + + + + + + + + + + + OMIM:620894 + + + + + + + + + + + + + + + + + + OMIM:620897 + + + + + + + + + + + + + + + + + + OMIM:620901 + + + + - + - + - + OMIM:616263 @@ -78619,16 +78811,16 @@ - + - + - + OMIM:615559 diff --git a/src/ontology/external/mondo-omim-genes.robot.tsv b/src/ontology/external/mondo-omim-genes.robot.tsv index c8db5dbd..27b1649a 100644 --- a/src/ontology/external/mondo-omim-genes.robot.tsv +++ b/src/ontology/external/mondo-omim-genes.robot.tsv @@ -440,6 +440,7 @@ http://purl.obolibrary.org/obo/MONDO_0009953 http://identifiers.org/hgnc/20197 O http://purl.obolibrary.org/obo/MONDO_0009958 http://identifiers.org/hgnc/8940 OMIM:266500 https://omim.org/entry/602026 http://purl.obolibrary.org/obo/MONDO_0009965 http://identifiers.org/hgnc/28648 OMIM:267000 https://omim.org/entry/614184 http://purl.obolibrary.org/obo/MONDO_0009968 http://identifiers.org/hgnc/853 OMIM:267300 https://omim.org/entry/192132 +http://purl.obolibrary.org/obo/MONDO_0009970 http://identifiers.org/hgnc/333 OMIM:267430 https://omim.org/entry/106150 http://purl.obolibrary.org/obo/MONDO_0009973 http://identifiers.org/hgnc/362 OMIM:267500 https://omim.org/entry/103020 http://purl.obolibrary.org/obo/MONDO_0009992 http://identifiers.org/hgnc/13345 OMIM:268200 https://omim.org/entry/605518 http://purl.obolibrary.org/obo/MONDO_0009994 http://identifiers.org/hgnc/3819 OMIM:268220 https://omim.org/entry/136533 @@ -3272,5 +3273,12 @@ http://purl.obolibrary.org/obo/MONDO_0971012 http://identifiers.org/hgnc/11566 O http://purl.obolibrary.org/obo/MONDO_0971013 http://identifiers.org/hgnc/9987 OMIM:620815 https://omim.org/entry/603200 http://purl.obolibrary.org/obo/MONDO_0971015 http://identifiers.org/hgnc/9988 OMIM:620817 https://omim.org/entry/601861 http://purl.obolibrary.org/obo/MONDO_0971043 http://identifiers.org/hgnc/12739 OMIM:620852 https://omim.org/entry/604981 +http://purl.obolibrary.org/obo/MONDO_0971151 http://identifiers.org/hgnc/20932 OMIM:620869 https://omim.org/entry/611415 +http://purl.obolibrary.org/obo/MONDO_0971152 http://identifiers.org/hgnc/4167 OMIM:620877 https://omim.org/entry/602835 +http://purl.obolibrary.org/obo/MONDO_0971171 http://identifiers.org/hgnc/14245 OMIM:620793 https://omim.org/entry/607902 +http://purl.obolibrary.org/obo/MONDO_0971172 http://identifiers.org/hgnc/10193 OMIM:620851 https://omim.org/entry/620823 +http://purl.obolibrary.org/obo/MONDO_0971175 http://identifiers.org/hgnc/43444 OMIM:620894 https://omim.org/entry/614071 +http://purl.obolibrary.org/obo/MONDO_0971176 http://identifiers.org/hgnc/28460 OMIM:620897 https://omim.org/entry/618611 +http://purl.obolibrary.org/obo/MONDO_0971177 http://identifiers.org/hgnc/1653 OMIM:620901 https://omim.org/entry/186760 http://purl.obolibrary.org/obo/MONDO_8000012 http://identifiers.org/hgnc/24265 OMIM:616263 https://omim.org/entry/608625 http://purl.obolibrary.org/obo/MONDO_8000024 http://identifiers.org/hgnc/9399 OMIM:615559 https://omim.org/entry/176977 diff --git a/src/ontology/external/nando-mappings.robot.owl b/src/ontology/external/nando-mappings.robot.owl index 8b81ad85..7eefe003 100644 --- a/src/ontology/external/nando-mappings.robot.owl +++ b/src/ontology/external/nando-mappings.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/nord.robot.owl b/src/ontology/external/nord.robot.owl index 16d4a1dc..3ac944a4 100644 --- a/src/ontology/external/nord.robot.owl +++ b/src/ontology/external/nord.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index 23e8b1f5..1a8c1e0d 100644 --- a/src/ontology/external/ordo-subsets.robot.owl +++ b/src/ontology/external/ordo-subsets.robot.owl @@ -8,7 +8,7 @@ xmlns:rdfs="http://www.w3.org/2000/01/rdf-schema#" xmlns:oboInOwl="http://www.geneontology.org/formats/oboInOwl#"> - + @@ -131515,6 +131515,132 @@ + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder + Orphanet:664416 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:673538 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:673543 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:673556 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:673568 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:673574 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675359 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675369 + + + + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + + + + + http://purl.obolibrary.org/obo/mondo#ordo_disorder + Orphanet:675597 + + + + diff --git a/src/ontology/external/ordo-subsets.robot.tsv b/src/ontology/external/ordo-subsets.robot.tsv index a0f5dd64..7480703f 100644 --- a/src/ontology/external/ordo-subsets.robot.tsv +++ b/src/ontology/external/ordo-subsets.robot.tsv @@ -9412,6 +9412,15 @@ MONDO:0971142 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0971143 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:675841 pleural mesothelioma in situ Pleural mesothelioma in situ MONDO:0971145 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:676036 peritoneal mesothelioma in situ Peritoneal mesothelioma in situ MONDO:0971154 http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders Orphanet:659698 hepatic cutaneous porphyria Hepatic cutaneous porphyria +MONDO:0975751 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:664416 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation +MONDO:0975752 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:673538 littoral cell hemangioma of the spleen Littoral cell hemangioma of the spleen +MONDO:0975753 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:673543 papillary hemangioma Papillary hemangioma +MONDO:0975754 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:673556 pseudomyogenic hemangioendothelioma Pseudomyogenic hemangioendothelioma +MONDO:0975755 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:673568 eccrine angiomatous hamartoma Eccrine angiomatous hamartoma +MONDO:0975756 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:673574 reactive angioendotheliomatosis Reactive angioendotheliomatosis +MONDO:0975757 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675359 anastomosing haemangioma Anastomosing haemangioma +MONDO:0975758 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675369 microvenular haemangioma Microvenular haemangioma +MONDO:0975759 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:675597 acquired elastotic haemangioma Acquired elastotic haemangioma MONDO:1040032 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:611223 EN1-related dorsoventral syndrome EN1-related dorsoventral syndrome MONDO:1040033 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:370980 congenital muscular dystrophy without intellectual disability Congenital muscular dystrophy without intellectual disability MONDO:8000006 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:51636 WHIM syndrome 1 WHIM syndrome diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 7dd63e2a..95f7d38f 100644 --- a/src/ontology/imports/omo_import.owl +++ b/src/ontology/imports/omo_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-09-06") +Annotation(owl:versionInfo "2024-09-12") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index 4fb095fa..4e52e041 100644 --- a/src/ontology/imports/ro_import.owl +++ b/src/ontology/imports/ro_import.owl @@ -7,9 +7,9 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) -Annotation(owl:versionInfo "2024-09-06") +Annotation(owl:versionInfo "2024-09-12") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index a61958ab..2655444a 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,7 +3,7 @@ * mondo-only: Positive mappings in MONDO not caught by the lexical mapping pipeline * split-mapping-set: Unmapped mappings broken down by predicate_id ## Summary of mappings: - * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 50 + * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 51 * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 18 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 33 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 33 @@ -15,11 +15,11 @@ * Number of mappings in [`unmapped_icd10who_lex_exact`](unmapped_icd10who_lex.tsv): 907 * Number of mappings in [`unmapped_icd10who_mondo`](mondo-only/unmapped_icd10who_mondo.tsv): 2 * Number of mappings in [`unmapped_icd10who_mondo_exact`](mondo-only/unmapped_icd10who_mondo.tsv): 2 - * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 5833 - * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 5826 + * Number of mappings in [`unmapped_icd11foundation_lex`](unmapped_icd11foundation_lex.tsv): 5837 + * Number of mappings in [`unmapped_icd11foundation_lex_exact`](unmapped_icd11foundation_lex.tsv): 5827 * Number of mappings in [`unmapped_icd11foundation_mondo`](mondo-only/unmapped_icd11foundation_mondo.tsv): 42 * Number of mappings in [`unmapped_icd11foundation_mondo_exact`](mondo-only/unmapped_icd11foundation_mondo.tsv): 42 - * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 116 + * Number of mappings in [`unmapped_ncit_lex`](unmapped_ncit_lex.tsv): 117 * Number of mappings in [`unmapped_ncit_lex_exact`](unmapped_ncit_lex.tsv): 46 * Number of mappings in [`unmapped_ncit_mondo`](mondo-only/unmapped_ncit_mondo.tsv): 15 * Number of mappings in [`unmapped_ncit_mondo_exact`](mondo-only/unmapped_ncit_mondo.tsv): 15 @@ -33,23 +33,23 @@ * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 867 ## mondo_XXXXmatch_ontology * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 4 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 241 + * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 2 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 82 * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 111 - * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 20 - * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 866 - * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 129 + * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163 + * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1706 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6083 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 11 + * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 75 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 130 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 14 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 866 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 60 * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1649 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 60 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 112 * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6224 * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 462 * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2377 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 112 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 238 - * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 2 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 81 - * Number of mappings in [`mondo_closematch_icd11.foundation`](split-mapping-set/mondo_closematch_icd11.foundation.tsv): 1706 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6079 - * Number of mappings in [`mondo_broadmatch_icd11.foundation`](split-mapping-set/mondo_broadmatch_icd11.foundation.tsv): 163 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index 77000259..d4fc429e 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -408,6 +408,9 @@ MONDO:0971107 MONDO:equivalentTo icd11.foundation:551770382 common arterial trun MONDO:0971108 MONDO:equivalentTo icd11.foundation:97579611 common arterial trunk with pulmonary dominance and interrupted aortic arch Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch MONDO:0971127 MONDO:equivalentTo icd11.foundation:1362820694 diffuse unilateral subacute neuroretinitis Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis MONDO:0971128 MONDO:equivalentTo icd11.foundation:1817745681 multiple evanescent white dot syndrome Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome +MONDO:0975755 MONDO:equivalentTo icd11.foundation:541084000 eccrine angiomatous hamartoma Eccrine angiomatous hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eccrine angiomatous hamartoma +MONDO:0975758 MONDO:equivalentTo icd11.foundation:1766508726 microvenular haemangioma Microvenular haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvenular haemangioma +MONDO:0975759 MONDO:equivalentTo icd11.foundation:1009548311 acquired elastotic haemangioma Acquired elastotic haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired elastotic haemangioma MONDO:1050000 MONDO:equivalentTo icd11.foundation:1245506993 sycosis barbae Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae MONDO:0003222 MONDO:equivalentTo NCIT:C4661 central nervous system melanocytic neoplasm Central Nervous System Melanocytic Neoplasm semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label central nervous system melanocytic neoplasm MONDO:0004520 MONDO:equivalentTo NCIT:C192096 intratubular embryonal carcinoma Intratubular Embryonal Carcinoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label intratubular embryonal carcinoma @@ -478,6 +481,7 @@ MONDO:0958302 MONDO:equivalentTo NCIT:C37210 TFEB-rearranged renal cell carcinom MONDO:0958303 MONDO:equivalentTo NCIT:C189242 childhood renal cell carcinoma with MiT translocations Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations MONDO:0971056 MONDO:equivalentTo NCIT:C176043 ocular surface squamous neoplasia Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia MONDO:0971143 MONDO:equivalentTo NCIT:C183134 pleural mesothelioma in situ Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ +MONDO:0975754 MONDO:equivalentTo NCIT:C121668 pseudomyogenic hemangioendothelioma Pseudomyogenic Hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyogenic hemangioendothelioma MONDO:1040026 MONDO:equivalentTo NCIT:C3813 metastatic malignant neoplasm in the brain Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain MONDO:0005641 MONDO:equivalentTo DOID:2934 aleutian mink disease aleutian mink disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label aleutian mink disorder MONDO:0005676 MONDO:equivalentTo DOID:5154 borna disease borna disease semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label borna disorder @@ -511,6 +515,7 @@ MONDO:0970952 MONDO:equivalentTo DOID:0070590 spermatogenic failure 91 spermatog MONDO:0970999 MONDO:equivalentTo DOID:0070591 spermatogenic failure 92 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620848 MONDO:0971000 MONDO:equivalentTo DOID:0070592 spermatogenic failure 93 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620849 MONDO:0971002 MONDO:equivalentTo DOID:0070593 spermatogenic failure 94 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620850 +MONDO:0975747 MONDO:equivalentTo DOID:0070594 spermatogenic failure 95 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620917 MONDO:0000088 MONDO:equivalentTo ICD10WHO:E30.1 precocious puberty Precocious puberty semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label precocious puberty MONDO:0000245 MONDO:equivalentTo ICD10WHO:B35.5 tinea imbricata Tinea imbricata semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label tinea imbricata MONDO:0000367 MONDO:equivalentTo ICD10WHO:B68 taeniasis Taeniasis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label taeniasis diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv index 3eee73b4..391c0055 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -233,6 +233,9 @@ MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogeni MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620850 LEXMATCH MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620850 LEXMATCH MONDO:0971002 spermatogenic failure 94 skos:closeMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620850 LEXMATCH +MONDO:0975747 spermatogenic failure 95 skos:closeMatch DOID:0070594 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620917 LEXMATCH +MONDO:0975747 spermatogenic failure 95 skos:closeMatch DOID:0070594 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620917 LEXMATCH +MONDO:0975747 spermatogenic failure 95 skos:closeMatch DOID:0070594 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620917 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d000453 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d000453 LEXMATCH MONDO:1010029 aleutian mink disease, human skos:closeMatch DOID:2934 aleutian mink disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d000453 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv index b1485921..5916ab92 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_orphanet.tsv @@ -1,12 +1,6 @@ subject_id subject_label predicate_id object_id object_label mapping_justification mapping_tool confidence subject_match_field object_match_field match_string comment MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:closeMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref umls:c0043410 LEXMATCH MONDO:0007024 Yersinia pseudotuberculosis infectious disease skos:closeMatch Orphanet:659707 Yersinia pseudotuberculosis infection semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref umls:c0043410 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613443 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613443 LEXMATCH -MONDO:0013266 intellectual disability, autosomal dominant 20 skos:closeMatch Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613443 LEXMATCH -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:673574 Reactive angioendotheliomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym reactive angioendotheliomatosis LEXMATCH -MONDO:0015057 renin-angiotensin-aldosterone system-blocker-induced angioedema skos:closeMatch Orphanet:673574 Reactive angioendotheliomatosis semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label reactive angioendotheliomatosis LEXMATCH -MONDO:0023650 littoral cell angioma of the spleen skos:closeMatch Orphanet:673538 Littoral cell hemangioma of the spleen semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym littoral cell angioma LEXMATCH MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619126 LEXMATCH MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619126 LEXMATCH MONDO:0030858 immunodeficiency 75 skos:closeMatch Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619126 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv index 28a1174f..c546db4d 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -80,3 +80,4 @@ MONDO:0970952 spermatogenic failure 91 skos:exactMatch DOID:0070590 spermatogeni MONDO:0970999 spermatogenic failure 92 skos:exactMatch DOID:0070591 spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620848 LEXMATCH MONDO:0971000 spermatogenic failure 93 skos:exactMatch DOID:0070592 spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620849 LEXMATCH MONDO:0971002 spermatogenic failure 94 skos:exactMatch DOID:0070593 spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620850 LEXMATCH +MONDO:0975747 spermatogenic failure 95 skos:exactMatch DOID:0070594 spermatogenic failure 95 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620917 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv index 6feef668..0fdb8a61 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_icd11.foundation.tsv @@ -6072,6 +6072,10 @@ MONDO:0971107 common arterial trunk with aortic dominance skos:exactMatch icd11. MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch skos:exactMatch icd11.foundation:97579611 Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch LEXMATCH MONDO:0971127 diffuse unilateral subacute neuroretinitis skos:exactMatch icd11.foundation:1362820694 Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis LEXMATCH MONDO:0971128 multiple evanescent white dot syndrome skos:exactMatch icd11.foundation:1817745681 Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome LEXMATCH +MONDO:0975755 eccrine angiomatous hamartoma skos:exactMatch icd11.foundation:541084000 Eccrine angiomatous hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eccrine angiomatous hamartoma LEXMATCH +MONDO:0975758 microvenular haemangioma skos:exactMatch icd11.foundation:1766508726 Microvenular haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvenular haemangioma LEXMATCH +MONDO:0975759 acquired elastotic haemangioma skos:exactMatch icd11.foundation:1009548311 Acquired elastotic haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired elastotic haemangioma LEXMATCH +MONDO:1030003 Mycoplasmoides infection skos:exactMatch icd11.foundation:438419889 Mycoplasma infection of unspecified site semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mycoplasmosis LEXMATCH MONDO:1040027 hypermobility spectrum disorder skos:exactMatch icd11.foundation:24232012 Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign joint hypermobility syndrome LEXMATCH MONDO:1050000 sycosis barbae skos:exactMatch icd11.foundation:1245506993 Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae LEXMATCH MONDO:8000015 46,XY sex reversal 11 skos:exactMatch icd11.foundation:1581551380 Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonic testicular regression syndrome LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv index 9e71cc0b..1c17ef61 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_ncit.tsv @@ -127,4 +127,5 @@ MONDO:0958302 TFEB-rearranged renal cell carcinoma skos:exactMatch NCIT:C37210 T MONDO:0958303 childhood renal cell carcinoma with MiT translocations skos:exactMatch NCIT:C189242 Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations LEXMATCH MONDO:0971056 ocular surface squamous neoplasia skos:exactMatch NCIT:C176043 Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia LEXMATCH MONDO:0971143 pleural mesothelioma in situ skos:exactMatch NCIT:C183134 Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ LEXMATCH +MONDO:0975754 pseudomyogenic hemangioendothelioma skos:exactMatch NCIT:C121668 Pseudomyogenic Hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyogenic hemangioendothelioma LEXMATCH MONDO:1040026 metastatic malignant neoplasm in the brain skos:exactMatch NCIT:C3813 Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain LEXMATCH diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index 674d9b74..a2894dec 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -32,3 +32,4 @@ MONDO:0970952 spermatogenic failure 91 DOID:0070590 MONDO:equivalentTo spermatog MONDO:0970999 spermatogenic failure 92 DOID:0070591 MONDO:equivalentTo spermatogenic failure 92 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620848 MONDO:0971000 spermatogenic failure 93 DOID:0070592 MONDO:equivalentTo spermatogenic failure 93 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620849 MONDO:0971002 spermatogenic failure 94 DOID:0070593 MONDO:equivalentTo spermatogenic failure 94 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620850 +MONDO:0975747 spermatogenic failure 95 DOID:0070594 MONDO:equivalentTo spermatogenic failure 95 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620917 diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv index b660472a..80306660 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv @@ -5820,6 +5820,7 @@ MONDO:0850225 autoimmune cholangitis icd11.foundation:421189700 MONDO:equivalent MONDO:0859565 atrioventricular septal defect icd11.foundation:1069974993 MONDO:equivalentTo Common atrioventricular junction with atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym atrioventricular septal defect MONDO:0957426 autosomal recessive hyper-IgE syndrome icd11.foundation:1909398175 MONDO:equivalentTo Autosomal recessive hyperimmunoglobulin E syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym autosomal recessive hyper-ige syndrome MONDO:0957462 primary pulmonary tuberculosis icd11.foundation:60063379 MONDO:equivalentTo Primary respiratory tuberculosis without mention of bacteriological or histological confirmation semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym primary pulmonary tuberculosis +MONDO:1030003 Mycoplasmoides infection icd11.foundation:438419889 MONDO:equivalentTo Mycoplasma infection of unspecified site semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym mycoplasmosis MONDO:1040027 hypermobility spectrum disorder icd11.foundation:24232012 MONDO:equivalentTo Ehlers-Danlos syndrome, hypermobile type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym benign joint hypermobility syndrome MONDO:8000015 46,XY sex reversal 11 icd11.foundation:1581551380 MONDO:equivalentTo Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym embryonic testicular regression syndrome MONDO:8000015 46,XY sex reversal 11 icd11.foundation:1581551380 MONDO:equivalentTo Embryonic testicular regression syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym testicular regression syndrome diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv index a82ef0d7..de40d26c 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex_exact.tsv @@ -6,4 +6,7 @@ MONDO:0971107 common arterial trunk with aortic dominance icd11.foundation:55177 MONDO:0971108 common arterial trunk with pulmonary dominance and interrupted aortic arch icd11.foundation:97579611 MONDO:equivalentTo Common arterial trunk with pulmonary dominance and interrupted aortic arch semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label common arterial trunk with pulmonary dominance and interrupted aortic arch MONDO:0971127 diffuse unilateral subacute neuroretinitis icd11.foundation:1362820694 MONDO:equivalentTo Diffuse unilateral subacute neuroretinitis semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label diffuse unilateral subacute neuroretinitis MONDO:0971128 multiple evanescent white dot syndrome icd11.foundation:1817745681 MONDO:equivalentTo Multiple Evanescent White Dot Syndrome semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label multiple evanescent white dot syndrome +MONDO:0975755 eccrine angiomatous hamartoma icd11.foundation:541084000 MONDO:equivalentTo Eccrine angiomatous hamartoma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label eccrine angiomatous hamartoma +MONDO:0975758 microvenular haemangioma icd11.foundation:1766508726 MONDO:equivalentTo Microvenular haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label microvenular haemangioma +MONDO:0975759 acquired elastotic haemangioma icd11.foundation:1009548311 MONDO:equivalentTo Acquired elastotic haemangioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label acquired elastotic haemangioma MONDO:1050000 sycosis barbae icd11.foundation:1245506993 MONDO:equivalentTo Sycosis barbae semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label sycosis barbae diff --git a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv index 37956677..66fc5974 100644 --- a/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_ncit_lex_exact.tsv @@ -69,4 +69,5 @@ MONDO:0958302 TFEB-rearranged renal cell carcinoma NCIT:C37210 MONDO:equivalentT MONDO:0958303 childhood renal cell carcinoma with MiT translocations NCIT:C189242 MONDO:equivalentTo Childhood Renal Cell Carcinoma with MiT Translocations semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label childhood renal cell carcinoma with mit translocations MONDO:0971056 ocular surface squamous neoplasia NCIT:C176043 MONDO:equivalentTo Ocular Surface Squamous Neoplasia semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label ocular surface squamous neoplasia MONDO:0971143 pleural mesothelioma in situ NCIT:C183134 MONDO:equivalentTo Pleural Mesothelioma In Situ semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pleural mesothelioma in situ +MONDO:0975754 pseudomyogenic hemangioendothelioma NCIT:C121668 MONDO:equivalentTo Pseudomyogenic Hemangioendothelioma semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label pseudomyogenic hemangioendothelioma MONDO:1040026 metastatic malignant neoplasm in the brain NCIT:C3813 MONDO:equivalentTo Metastatic Malignant Neoplasm in the Brain semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label metastatic malignant neoplasm in the brain diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 4ec413a2..1094fdc1 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 11, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/doid.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/doid.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 55d282cc..31736b9a 100644 --- a/src/ontology/metadata/gard-metrics.json +++ b/src/ontology/metadata/gard-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/gard.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/gard.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10cm-metrics.json b/src/ontology/metadata/icd10cm-metrics.json index ef3be2a2..a208ffb0 100644 --- a/src/ontology/metadata/icd10cm-metrics.json +++ b/src/ontology/metadata/icd10cm-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10cm.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd10cm.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd10who-metrics.json b/src/ontology/metadata/icd10who-metrics.json index ee1012c4..b9e5e548 100644 --- a/src/ontology/metadata/icd10who-metrics.json +++ b/src/ontology/metadata/icd10who-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd10who.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd10who.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/icd11foundation-metrics.json b/src/ontology/metadata/icd11foundation-metrics.json index 1d61ea44..fedb0ee1 100644 --- a/src/ontology/metadata/icd11foundation-metrics.json +++ b/src/ontology/metadata/icd11foundation-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 5, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/icd11foundation.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/icd11foundation.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/metadata/ncit-metrics.json b/src/ontology/metadata/ncit-metrics.json index 322a9f3e..f930b375 100644 --- a/src/ontology/metadata/ncit-metrics.json +++ b/src/ontology/metadata/ncit-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 0, "ontology_anno_count": 7, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ncit.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/ncit.owl", "owl2": true, "owl2_dl": true, "owl2_el": false, diff --git a/src/ontology/metadata/omim-metrics.json b/src/ontology/metadata/omim-metrics.json index 8e6ec772..37409279 100644 --- a/src/ontology/metadata/omim-metrics.json +++ b/src/ontology/metadata/omim-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 19, "annotation_property_count_incl": 19, - "axiom_count": 354395, - "axiom_count_incl": 354395, - "class_count": 22954, - "class_count_incl": 22954, + "axiom_count": 355487, + "axiom_count_incl": 355487, + "class_count": 22957, + "class_count_incl": 22957, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "E", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 26211, - "logical_axiom_count_incl": 26211, + "logical_axiom_count": 26217, + "logical_axiom_count_incl": 26217, "obj_property_count": 7, "obj_property_count_incl": 7, "ontology_anno_count": 1, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/omim.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/omim.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, @@ -37,13 +37,13 @@ "rdfs": false, "rule_count": 0, "rule_count_incl": 0, - "signature_entity_count": 22982, - "signature_entity_count_incl": 22982, + "signature_entity_count": 22985, + "signature_entity_count_incl": 22985, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 26211, - "tbox_axiom_count_incl": 26211, - "tboxrbox_axiom_count": 26211, - "tboxrbox_axiom_count_incl": 26211, + "tbox_axiom_count": 26217, + "tbox_axiom_count_incl": 26217, + "tboxrbox_axiom_count": 26217, + "tboxrbox_axiom_count_incl": 26217, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 305207, + "AnnotationAssertion": 306290, "SubAnnotationPropertyOf": 1, - "Declaration": 22976, - "SubClassOf": 26211 + "Declaration": 22979, + "SubClassOf": 26217 }, "axiom_type_count_incl": { - "AnnotationAssertion": 305207, + "AnnotationAssertion": 306290, "SubAnnotationPropertyOf": 1, - "Declaration": 22976, - "SubClassOf": 26211 + "Declaration": 22979, + "SubClassOf": 26217 }, "class_expression_count": { - "Class": 75366, - "ObjectSomeValuesFrom": 21258 + "Class": 75381, + "ObjectSomeValuesFrom": 21262 }, "class_expression_count_incl": { - "Class": 75366, - "ObjectSomeValuesFrom": 21258 + "Class": 75381, + "ObjectSomeValuesFrom": 21262 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -99,35 +99,35 @@ "obo": "http://purl.obolibrary.org/obo/" }, "namespace_axiom_count": { - "prefix_unknown": 98248, - "oboInOwl": 90181, - "MONDO": 19114, - "rdf": 21040, + "prefix_unknown": 98289, + "oboInOwl": 90191, + "MONDO": 19115, + "rdf": 21056, "owl": 1366, "IAO": 55207, - "skos": 81231, - "rdfs": 40169, - "biolink": 36999, + "skos": 82302, + "rdfs": 40172, + "biolink": 37003, "CHR": 7585, - "RO": 21265, - "obo": 2345 + "RO": 21269, + "obo": 2343 }, "namespace_axiom_count_incl": { - "prefix_unknown": 98248, - "oboInOwl": 90181, - "MONDO": 19114, - "rdf": 21040, + "prefix_unknown": 98289, + "oboInOwl": 90191, + "MONDO": 19115, + "rdf": 21056, "owl": 1366, "IAO": 55207, - "skos": 81231, - "rdfs": 40169, - "biolink": 36999, + "skos": 82302, + "rdfs": 40172, + "biolink": 37003, "CHR": 7585, - "RO": 21265, - "obo": 2345 + "RO": 21269, + "obo": 2343 }, "namespace_entity_count": { - "prefix_unknown": 21512, + "prefix_unknown": 21515, "oboInOwl": 4, "owl": 2, "xsd": 1, @@ -142,7 +142,7 @@ "obo": 2 }, "namespace_entity_count_incl": { - "prefix_unknown": 21512, + "prefix_unknown": 21515, "oboInOwl": 4, "owl": 2, "xsd": 1, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 5e8eb27f..cec03f32 100644 --- a/src/ontology/metadata/ordo-metrics.json +++ b/src/ontology/metadata/ordo-metrics.json @@ -26,7 +26,7 @@ "obj_property_count_incl": 4, "ontology_anno_count": 12, "ontology_iri": "http://purl.obolibrary.org/obo/mondo/sources/ordo.owl", - "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-06/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-09-12/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index 118f3f92..3863e67c 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -1387,6 +1387,7 @@ + @@ -2352,6 +2353,7 @@ + @@ -6639,7 +6641,6 @@ - @@ -14043,6 +14044,7 @@ + @@ -21313,6 +21315,7 @@ + diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index cde0aed7..49ec35a0 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -2442,7 +2442,6 @@ MONDO:0012791 mitochondrial DNA depletion syndrome, encephalomyopathic form with MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0006025 DOID:0070331 DOID:0050737 autosomal recessive disease MONDO:0012792 mitochondrial DNA depletion syndrome 8a MONDO:0006025 DOID:0080127 DOID:0050737 autosomal recessive disease MONDO:0012794 ANE syndrome MONDO:0006025 DOID:0112244 DOID:0050737 autosomal recessive disease -MONDO:0012796 retinitis pigmentosa 41 MONDO:0006025 DOID:0110376 DOID:0050737 autosomal recessive disease MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000426 DOID:0090045 DOID:0050736 autosomal dominant disease MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0000426 DOID:0081079 DOID:0050736 autosomal dominant disease MONDO:0012808 dilated cardiomyopathy 1AA MONDO:0000426 DOID:0110428 DOID:0050736 autosomal dominant disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index bfcda5ae..a2dd6029 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -4104,7 +4104,6 @@ MONDO:0006949 retinal drusen MONDO:0002175 DOID:2569 DOID:2007 degeneration of m MONDO:0006950 retinal vasculitis MONDO:0002311 DOID:11563 DOID:2462 retinal vascular disorder MONDO:0006950 retinal vasculitis MONDO:0018882 DOID:11563 DOID:865 vasculitis MONDO:0006951 retinal vein occlusion MONDO:0002089 DOID:1727 DOID:1729 retinal vascular occlusion -MONDO:0006952 retinopathy of prematurity MONDO:0005283 DOID:13025 DOID:5679 retinal disorder MONDO:0006953 Rh isoimmunization MONDO:0002901 DOID:4175 DOID:4176 blood group incompatibility MONDO:0006961 scrapie MONDO:0005429 DOID:5434 DOID:649 prion disease MONDO:0006964 secondary hyperparathyroidism MONDO:0001741 DOID:12466 DOID:13543 hyperparathyroidism @@ -4297,7 +4296,6 @@ MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 DOID:0070303 DO MONDO:0007564 pilomatrixoma MONDO:0003413 DOID:5374 DOID:5375 hair follicle neoplasm MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0001115 DOID:0060652 DOID:10780 familial polycythemia MONDO:0007576 esophageal cancer MONDO:0002516 DOID:5041 DOID:3119 digestive system cancer -MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 DOID:0111412 DOID:0050535 exudative vitreoretinopathy MONDO:0007603 Felty syndrome MONDO:0002254 DOID:11042 DOID:225 syndromic disease MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0001584 DOID:0080143 DOID:1279 ocular motility disease MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 DOID:0070042 DOID:1925 Coffin-Siris syndrome diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index bba3e4de..d7e5db15 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -44074,6 +44074,21 @@ + + + + + + + + + + + + + + + @@ -46443,6 +46458,7 @@ + @@ -46461,11 +46477,34 @@ + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index c24e6e94..4b09f95a 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -1387,6 +1387,7 @@ + @@ -2352,6 +2353,7 @@ + @@ -12246,6 +12248,7 @@ + @@ -33717,6 +33720,7 @@ + diff --git a/src/ontology/reports/omim.subclass.added.robot.tsv b/src/ontology/reports/omim.subclass.added.robot.tsv index c81f2318..209627e3 100644 --- a/src/ontology/reports/omim.subclass.added.robot.tsv +++ b/src/ontology/reports/omim.subclass.added.robot.tsv @@ -278,3 +278,4 @@ MONDO:0859183 Parkinson disease 24, autosomal dominant, susceptibility to MONDO: MONDO:0859376 hydrocephalus, congenital, 5, susceptibility to MONDO:0016349 OMIM:620241 OMIMPS:236600 congenital hydrocephalus MONDO:0957561 encephalitis, acute, infection-induced, susceptibility to, 12 MONDO:0000166 OMIM:620461 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 MONDO:0800451 OMIM:620481 OMIMPS:604498 congenital amegakaryocytic thrombocytopenia +MONDO:0975748 Parkinson disease 26, autosomal dominant, susceptibility to MONDO:0005180 OMIM:620923 OMIMPS:168600 Parkinson disease diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index 1783f8e6..d61d03b2 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -88,7 +88,6 @@ MONDO:0007568 aortic aneurysm, familial thoracic 4 MONDO:0019625 OMIM:132900 OMI MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0001115 OMIM:133100 OMIMPS:133100 familial polycythemia MONDO:0007585 exostoses, multiple, type 1 MONDO:0005508 OMIM:133700 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0007586 exostoses, multiple, type 2 MONDO:0005508 OMIM:133701 OMIMPS:133700 hereditary multiple osteochondromas -MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 OMIM:133780 OMIMPS:133780 exudative vitreoretinopathy MONDO:0007609 fibromatosis, gingival, 1 MONDO:0016070 OMIM:135300 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 OMIM:135900 OMIMPS:135900 Coffin-Siris syndrome MONDO:0007627 focal facial dermal dysplasia type I MONDO:0018363 OMIM:136500 OMIMPS:136500 focal facial dermal dysplasia @@ -926,6 +925,7 @@ MONDO:0011701 inflammatory bowel disease 4 MONDO:0005265 OMIM:606675 OMIMPS:2666 MONDO:0011702 dilated cardiomyopathy 1L MONDO:0016333 OMIM:606685 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 MONDO:0019587 OMIM:606705 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011709 split hand-foot malformation 5 MONDO:0016576 OMIM:606708 OMIMPS:183600 split hand-foot malformation +MONDO:0011710 specific language impairment 1 MONDO:0000724 OMIM:606711 OMIMPS:606711 specific language impairment MONDO:0011711 specific language impairment 2 MONDO:0000724 OMIM:606712 OMIMPS:606711 specific language impairment MONDO:0011715 Seckel syndrome 2 MONDO:0019342 OMIM:606744 OMIMPS:210600 Seckel syndrome MONDO:0011718 primary ciliary dyskinesia 2 MONDO:0016575 OMIM:606763 OMIMPS:244400 primary ciliary dyskinesia @@ -3813,6 +3813,9 @@ MONDO:0971152 hearing loss, autosomal recessive 125 MONDO:0019588 OMIM:620877 OM MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 MONDO:0015152 OMIM:620793 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b MONDO:0017338 OMIM:620887 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis MONDO:0021094 OMIM:620901 OMIMPS:300755 immunodeficiency disease +MONDO:0975746 spastic paraplegia 92, autosomal recessive MONDO:0019064 OMIM:620911 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0975747 spermatogenic failure 95 MONDO:0004983 OMIM:620917 OMIMPS:258150 spermatogenic failure +MONDO:0975749 immunodeficiency 125 MONDO:0021094 OMIM:620926 OMIMPS:300755 immunodeficiency disease MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index b926867f..9d50ef69 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -3147,6 +3147,7 @@ OMIM:301121 MONDO:excludeGene OMIM:301122 MONDO:excludeGene OMIM:301123 MONDO:excludeGene OMIM:301124 MONDO:excludeGene +OMIM:301125 MONDO:excludeGene OMIM:301300 MONDO:excludeGene OMIM:301770 MONDO:excludeGene OMIM:301780 MONDO:excludeGene @@ -18296,6 +18297,7 @@ OMIM:152425 MONDO:excludeNonDisease OMIM:152690 MONDO:excludeNonDisease OMIM:153240 MONDO:excludeNonDisease OMIM:153243 MONDO:excludeNonDisease +OMIM:153245 MONDO:excludeNonDisease OMIM:153310 MONDO:excludeNonDisease OMIM:153330 MONDO:excludeNonDisease OMIM:153337 MONDO:excludeNonDisease @@ -19445,6 +19447,7 @@ OMIM:301121 MONDO:excludeNonDisease OMIM:301122 MONDO:excludeNonDisease OMIM:301123 MONDO:excludeNonDisease OMIM:301124 MONDO:excludeNonDisease +OMIM:301125 MONDO:excludeNonDisease OMIM:301780 MONDO:excludeNonDisease OMIM:302020 MONDO:excludeNonDisease OMIM:302650 MONDO:excludeNonDisease @@ -23204,7 +23207,6 @@ OMIM:606813 MONDO:excludeNonDisease OMIM:606814 MONDO:excludeNonDisease OMIM:606815 MONDO:excludeNonDisease OMIM:606816 MONDO:excludeNonDisease -OMIM:606817 MONDO:excludeNonDisease OMIM:606818 MONDO:excludeNonDisease OMIM:606819 MONDO:excludeNonDisease OMIM:606820 MONDO:excludeNonDisease @@ -34923,6 +34925,7 @@ OMIM:301121 MONDO:nonDisease OMIM:301122 MONDO:nonDisease OMIM:301123 MONDO:nonDisease OMIM:301124 MONDO:nonDisease +OMIM:301125 MONDO:nonDisease OMIM:301300 MONDO:nonDisease OMIM:301770 MONDO:nonDisease OMIM:301780 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index aa7db8f5..543bed42 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,10 +1,5 @@ subject_id subject_label is_mapped is_excluded is_deprecated -OMIM:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 False False False -OMIM:620910 otofacial neurodevelopmental syndrome False False False -OMIM:620911 spastic paraplegia 92, autosomal recessive False False False -OMIM:620917 spermatogenic failure 95 False False False -OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to False False False -OMIM:620926 immunodeficiency 125 False False False +OMIM:620931 immunodeficiency 126, susceptibility to False False False OMIM:100500 False False True OMIM:100680 False False True OMIM:100735 False False True @@ -4516,6 +4511,7 @@ OMIM:301121 MAP7D2 False True False OMIM:301122 ZCCHC18 False True False OMIM:301123 TEX13C False True False OMIM:301124 TEX13D False True False +OMIM:301125 ZCCHC13 False True False OMIM:301300 ALAS2 False True False OMIM:301770 ARR3 False True False OMIM:301780 ARSC2 False True False @@ -17321,7 +17317,7 @@ OMIM:617490 CATSPERD False True False OMIM:617491 NSUN3 False True False OMIM:617492 OLFM2 False True False OMIM:617494 EML2 False True False -OMIM:617495 FAM19A1 False True False +OMIM:617495 TAFA1 False True False OMIM:617496 FAM19A2 False True False OMIM:617497 FAM19A3 False True False OMIM:617498 FAM19A4 False True False @@ -26386,7 +26382,7 @@ OMIM:619166 mitochondrial complex 2 deficiency, nuclear type 2 True False False OMIM:619167 mitochondrial complex 2 deficiency, nuclear type 3 True False False OMIM:619170 mitochondrial complex 1 deficiency, nuclear type 36 True False False OMIM:619172 hermansky-pudlak syndrome 11 True False False -OMIM:619173 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities True False False +OMIM:619173 ceroid lipofuscinosis, neuronal, 15 True False False OMIM:619174 deafness, autosomal recessive 117 True False False OMIM:619175 proteasome-associated autoinflammatory syndrome 5 True False False OMIM:619176 oocyte/zygote/embryo maturation arrest 10 True False False @@ -27209,11 +27205,17 @@ OMIM:620869 immunodeficiency 122 True False False OMIM:620877 deafness, autosomal recessive 125 True False False OMIM:620880 autoinflammation with arthritis and vasculitis True False False OMIM:620887 multiple mitochondrial dysfunctions syndrome 9b True False False +OMIM:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 True False False OMIM:620894 cardiomyopathy, dilated, 2k True False False OMIM:620897 ovarian dysgenesis 11 True False False OMIM:620901 immunodeficiency 123 with hpv-related verrucosis True False False OMIM:620903 polycystic kidney disease 8 True False False OMIM:620908 arterial tortuosity-bone fragility syndrome True False False +OMIM:620910 otofacial neurodevelopmental syndrome True False False +OMIM:620911 spastic paraplegia 92, autosomal recessive True False False +OMIM:620917 spermatogenic failure 95 True False False +OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to True False False +OMIM:620926 immunodeficiency 125 True False False OMIMPS:100070 Aortic aneurysm, familial abdominal True False False OMIMPS:100300 Adams-Oliver syndrome True False False OMIMPS:101800 Acrodysostosis True False False diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 142a3e30..7253cd1c 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -4372,6 +4372,7 @@ OMIM:301121 OMIM:301122 OMIM:301123 OMIM:301124 +OMIM:301125 OMIM:301300 OMIM:301410 OMIM:301700 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 1bb40a2b..84856b57 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,7 +1,2 @@ subject_id subject_label -OMIM:620926 immunodeficiency 125 -OMIM:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 -OMIM:620910 otofacial neurodevelopmental syndrome -OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to -OMIM:620911 spastic paraplegia 92, autosomal recessive -OMIM:620917 spermatogenic failure 95 +OMIM:620931 immunodeficiency 126, susceptibility to diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index a6416930..8b6c1de4 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -13656,6 +13656,10 @@ MONDO:0971141 localized pleural mesothelioma MONDO:8000031 Orphanet:675833 Orpha MONDO:0971142 diffused pleural mesothelioma MONDO:8000031 Orphanet:675837 Orphanet:557494 obsolete subtype of a disorder MONDO:0971143 pleural mesothelioma in situ MONDO:8000031 Orphanet:675841 Orphanet:557494 obsolete subtype of a disorder MONDO:0971145 peritoneal mesothelioma in situ MONDO:0015683 Orphanet:676036 Orphanet:168807 obsolete primary malignant peritoneal tumor +MONDO:0975751 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation MONDO:8000031 Orphanet:664416 Orphanet:557494 obsolete subtype of a disorder +MONDO:0975754 pseudomyogenic hemangioendothelioma MONDO:0018729 Orphanet:673556 Orphanet:459543 obsolete genetic vascular tumor +MONDO:0975755 eccrine angiomatous hamartoma MONDO:0019300 Orphanet:673568 Orphanet:79386 obsolete rare skin tumor or hamartoma +MONDO:0975757 anastomosing haemangioma MONDO:0018729 Orphanet:675359 Orphanet:459543 obsolete genetic vascular tumor MONDO:1040032 EN1-related dorsoventral syndrome MONDO:0017118 Orphanet:611223 Orphanet:269523 obsolete syndrome with a cerebellar malformation as major feature MONDO:1040032 EN1-related dorsoventral syndrome MONDO:0019697 Orphanet:611223 Orphanet:93438 obsolete mesomelic and rhizo-mesomelic dysplasia MONDO:1040032 EN1-related dorsoventral syndrome MONDO:8000032 Orphanet:611223 Orphanet:377789 obsolete malformation syndrome diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index c4df41ac..43232b29 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -1350,5 +1350,7 @@ MONDO:0958275 segmental spinal dysgenesis MONDO:0000859 Orphanet:656126 Orphanet MONDO:0958278 neurodevelopmental disorder with hypotonia and characteristic brain abnormalities MONDO:0015159 Orphanet:664430 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0971007 neuroocular syndrome 1 MONDO:0015159 Orphanet:659904 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0971137 severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome MONDO:0020076 Orphanet:675775 Orphanet:98274 myeloproliferative neoplasm +MONDO:0975751 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation MONDO:0013266 Orphanet:664416 Orphanet:664410 intellectual disability, autosomal dominant 20 +MONDO:0975752 littoral cell hemangioma of the spleen MONDO:0971115 Orphanet:673538 Orphanet:673470 benign vascular tumor MONDO:1040033 congenital muscular dystrophy without intellectual disability MONDO:0018276 Orphanet:370980 Orphanet:370953 muscular dystrophy-dystroglycanopathy MONDO:8000012 neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1 MONDO:0015159 Orphanet:456312 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index d97c868c..672e5ff6 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -4764,5 +4764,12 @@ MONDO:0971141 localized pleural mesothelioma MONDO:0006292 Orphanet:675833 Orpha MONDO:0971142 diffused pleural mesothelioma MONDO:0006292 Orphanet:675837 Orphanet:50251 malignant mesothelioma MONDO:0971143 pleural mesothelioma in situ MONDO:0006292 Orphanet:675841 Orphanet:50251 malignant mesothelioma MONDO:0971154 hepatic cutaneous porphyria MONDO:0002520 Orphanet:659698 Orphanet:659694 hepatic porphyria +MONDO:0975753 papillary hemangioma MONDO:0971115 Orphanet:673543 Orphanet:673470 benign vascular tumor +MONDO:0975754 pseudomyogenic hemangioendothelioma MONDO:0971116 Orphanet:673556 Orphanet:673473 borderline vascular tumor +MONDO:0975755 eccrine angiomatous hamartoma MONDO:0971115 Orphanet:673568 Orphanet:673470 benign vascular tumor +MONDO:0975756 reactive angioendotheliomatosis MONDO:0971115 Orphanet:673574 Orphanet:673470 benign vascular tumor +MONDO:0975757 anastomosing haemangioma MONDO:0971115 Orphanet:675359 Orphanet:673470 benign vascular tumor +MONDO:0975758 microvenular haemangioma MONDO:0971115 Orphanet:675369 Orphanet:673470 benign vascular tumor +MONDO:0975759 acquired elastotic haemangioma MONDO:0971115 Orphanet:675597 Orphanet:673470 benign vascular tumor MONDO:8000008 Martsolf syndrome 1 MONDO:0015159 Orphanet:1387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0017574 Orphanet:99811 Orphanet:2978 chronic intestinal pseudoobstruction diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index cf24cd0f..21c76999 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -48,7 +48,6 @@ Orphanet:662456 Small intestine duplication False False False Orphanet:662473 Duodenal duplication False False False Orphanet:662480 Jujeno-ileal duplication False False False Orphanet:662786 Vasa previa False False False -Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation False False False Orphanet:664450 Inherited cancer-predisposing lymphoproliferative syndrome False False False Orphanet:664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility False False False Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency False False False @@ -57,17 +56,9 @@ Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency False False False Orphanet:664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature False False False Orphanet:667589 Isolated congenital femoral bifurcation False False False -Orphanet:673538 Littoral cell hemangioma of the spleen False False False -Orphanet:673543 Papillary hemangioma False False False -Orphanet:673556 Pseudomyogenic hemangioendothelioma False False False -Orphanet:673568 Eccrine angiomatous hamartoma False False False -Orphanet:673574 Reactive angioendotheliomatosis False False False Orphanet:674648 Syndrome with congenital phagocyte functional defect as a major feature False False False Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia False False False Orphanet:674896 Non-syndromic congenital phagocyte functional defect False False False -Orphanet:675359 Anastomosing haemangioma False False False -Orphanet:675369 Microvenular haemangioma False False False -Orphanet:675597 Acquired elastotic haemangioma False False False Orphanet:675976 Adenomatoid tumour of the peritoneum False False False Orphanet:676030 Primary benign peritoneal tumor False False False Orphanet:676033 Well-differentiated papillary mesothelial tumour of the peritoneum False False False @@ -12973,6 +12964,7 @@ Orphanet:664377 MGP-related spondyloepiphyseal dysplasia True False False Orphanet:664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation True False False Orphanet:664404 6q25.1 microdeletion syndrome True False False Orphanet:664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome True False False +Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation True False False Orphanet:664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome True False False Orphanet:664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome True False False Orphanet:664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency True False False @@ -13024,6 +13016,11 @@ Orphanet:673466 Malignant vascular tumor True False False Orphanet:673470 Benign vascular tumor True False False Orphanet:673473 Borderline vascular tumor True False False Orphanet:673525 Intravascular papillary endothelial hyperplasia True False False +Orphanet:673538 Littoral cell hemangioma of the spleen True False False +Orphanet:673543 Papillary hemangioma True False False +Orphanet:673556 Pseudomyogenic hemangioendothelioma True False False +Orphanet:673568 Eccrine angiomatous hamartoma True False False +Orphanet:673574 Reactive angioendotheliomatosis True False False Orphanet:673580 Classic pilocytic astrocytoma True False False Orphanet:673585 Pilocytic astrocytoma with histological features of anaplasia True False False Orphanet:674 Accessory pancreas True False False @@ -13040,10 +13037,13 @@ Orphanet:674965 Choroidal osteoma True False False Orphanet:674968 Bilateral diffuse uveal melanocytic proliferation disease True False False Orphanet:675 Annular pancreas True False False Orphanet:675216 Spinocerebellar ataxia type 27B True False False +Orphanet:675359 Anastomosing haemangioma True False False Orphanet:675362 Hobnail hemangioma True False False +Orphanet:675369 Microvenular haemangioma True False False Orphanet:675380 Isolated segmental infantile hemangioma True False False Orphanet:675396 Epithelioid hemangioma True False False Orphanet:675404 May-Thurner syndrome True False False +Orphanet:675597 Acquired elastotic haemangioma True False False Orphanet:675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome True False False Orphanet:675767 Severe congenital neutropenia-developmental delay-pancreatic insufficiency syndrome due to SRP54 deficiency True False False Orphanet:675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome True False False diff --git a/src/ontology/reports/ordo_unmapped_terms.tsv b/src/ontology/reports/ordo_unmapped_terms.tsv index 5d693e59..0fab5f3a 100644 --- a/src/ontology/reports/ordo_unmapped_terms.tsv +++ b/src/ontology/reports/ordo_unmapped_terms.tsv @@ -5,11 +5,8 @@ Orphanet:409977 1-9 / 100 000 Orphanet:409978 6-9 / 10 000 Orphanet:409979 <1 / 1 000 000 Orphanet:409980 >1 / 1000 -Orphanet:675597 Acquired elastotic haemangioma Orphanet:674653 Actinomyopathy-associated syndromic thrombocytopenia Orphanet:675976 Adenomatoid tumour of the peritoneum -Orphanet:675359 Anastomosing haemangioma -Orphanet:664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation Orphanet:662392 Colonic duplication Orphanet:662473 Duodenal duplication Orphanet:664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature @@ -17,22 +14,16 @@ Orphanet:664726 EBV-induced lymphoproliferative disease due to CD137 deficiency Orphanet:664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency Orphanet:664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency Orphanet:664729 EBV-induced lymphoproliferative disease due to TET2 deficiency -Orphanet:673568 Eccrine angiomatous hamartoma Orphanet:662388 Gallbladder duplication Orphanet:662376 Gastric duplication Orphanet:664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility Orphanet:664450 Inherited cancer-predisposing lymphoproliferative syndrome Orphanet:667589 Isolated congenital femoral bifurcation Orphanet:662480 Jujeno-ileal duplication -Orphanet:673538 Littoral cell hemangioma of the spleen -Orphanet:675369 Microvenular haemangioma Orphanet:674896 Non-syndromic congenital phagocyte functional defect -Orphanet:673543 Papillary hemangioma Orphanet:676030 Primary benign peritoneal tumor -Orphanet:673556 Pseudomyogenic hemangioendothelioma Orphanet:662405 Pyloric duplication Orphanet:659712 Rare yersiniosis -Orphanet:673574 Reactive angioendotheliomatosis Orphanet:662456 Small intestine duplication Orphanet:674648 Syndrome with congenital phagocyte functional defect as a major feature Orphanet:409981 Unknown_epidemiological_range diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index 701ca8b3..c3be4ca0 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -4104,7 +4104,6 @@ MONDO:0006949 retinal drusen MONDO:0002175 DOID:2569 DOID:2007 degeneration of m MONDO:0006950 retinal vasculitis MONDO:0002311 DOID:11563 DOID:2462 retinal vascular disorder MONDO:0006950 retinal vasculitis MONDO:0018882 DOID:11563 DOID:865 vasculitis MONDO:0006951 retinal vein occlusion MONDO:0002089 DOID:1727 DOID:1729 retinal vascular occlusion -MONDO:0006952 retinopathy of prematurity MONDO:0005283 DOID:13025 DOID:5679 retinal disorder MONDO:0006953 Rh isoimmunization MONDO:0002901 DOID:4175 DOID:4176 blood group incompatibility MONDO:0006961 scrapie MONDO:0005429 DOID:5434 DOID:649 prion disease MONDO:0006964 secondary hyperparathyroidism MONDO:0001741 DOID:12466 DOID:13543 hyperparathyroidism @@ -4297,7 +4296,6 @@ MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 DOID:0070303 DO MONDO:0007564 pilomatrixoma MONDO:0003413 DOID:5374 DOID:5375 hair follicle neoplasm MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0001115 DOID:0060652 DOID:10780 familial polycythemia MONDO:0007576 esophageal cancer MONDO:0002516 DOID:5041 DOID:3119 digestive system cancer -MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 DOID:0111412 DOID:0050535 exudative vitreoretinopathy MONDO:0007603 Felty syndrome MONDO:0002254 DOID:11042 DOID:225 syndromic disease MONDO:0007614 congenital fibrosis of extraocular muscles MONDO:0001584 DOID:0080143 DOID:1279 ocular motility disease MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 DOID:0070042 DOID:1925 Coffin-Siris syndrome @@ -13302,7 +13300,6 @@ MONDO:0007568 aortic aneurysm, familial thoracic 4 MONDO:0019625 OMIM:132900 OMI MONDO:0007572 primary familial polycythemia due to EPO receptor mutation MONDO:0001115 OMIM:133100 OMIMPS:133100 familial polycythemia MONDO:0007585 exostoses, multiple, type 1 MONDO:0005508 OMIM:133700 OMIMPS:133700 hereditary multiple osteochondromas MONDO:0007586 exostoses, multiple, type 2 MONDO:0005508 OMIM:133701 OMIMPS:133700 hereditary multiple osteochondromas -MONDO:0007589 exudative vitreoretinopathy 1 MONDO:0019516 OMIM:133780 OMIMPS:133780 exudative vitreoretinopathy MONDO:0007609 fibromatosis, gingival, 1 MONDO:0016070 OMIM:135300 OMIMPS:135300 hereditary gingival fibromatosis MONDO:0007617 Coffin-Siris syndrome 1 MONDO:0015452 OMIM:135900 OMIMPS:135900 Coffin-Siris syndrome MONDO:0007627 focal facial dermal dysplasia type I MONDO:0018363 OMIM:136500 OMIMPS:136500 focal facial dermal dysplasia @@ -14140,6 +14137,7 @@ MONDO:0011701 inflammatory bowel disease 4 MONDO:0005265 OMIM:606675 OMIMPS:2666 MONDO:0011702 dilated cardiomyopathy 1L MONDO:0016333 OMIM:606685 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0011708 autosomal dominant nonsyndromic hearing loss 36 MONDO:0019587 OMIM:606705 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss MONDO:0011709 split hand-foot malformation 5 MONDO:0016576 OMIM:606708 OMIMPS:183600 split hand-foot malformation +MONDO:0011710 specific language impairment 1 MONDO:0000724 OMIM:606711 OMIMPS:606711 specific language impairment MONDO:0011711 specific language impairment 2 MONDO:0000724 OMIM:606712 OMIMPS:606711 specific language impairment MONDO:0011715 Seckel syndrome 2 MONDO:0019342 OMIM:606744 OMIMPS:210600 Seckel syndrome MONDO:0011718 primary ciliary dyskinesia 2 MONDO:0016575 OMIM:606763 OMIMPS:244400 primary ciliary dyskinesia @@ -17027,6 +17025,9 @@ MONDO:0971152 hearing loss, autosomal recessive 125 MONDO:0019588 OMIM:620877 OM MONDO:0971171 muscular dystrophy, limb-girdle, autosomal recessive 29 MONDO:0015152 OMIM:620793 OMIMPS:253600 autosomal recessive limb-girdle muscular dystrophy MONDO:0971174 multiple mitochondrial dysfunctions syndrome 9b MONDO:0017338 OMIM:620887 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0971177 immunodeficiency 123 with HPV-related verrucosis MONDO:0021094 OMIM:620901 OMIMPS:300755 immunodeficiency disease +MONDO:0975746 spastic paraplegia 92, autosomal recessive MONDO:0019064 OMIM:620911 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0975747 spermatogenic failure 95 MONDO:0004983 OMIM:620917 OMIMPS:258150 spermatogenic failure +MONDO:0975749 immunodeficiency 125 MONDO:0021094 OMIM:620926 OMIMPS:300755 immunodeficiency disease MONDO:8000006 WHIM syndrome 1 MONDO:0023880 OMIM:193670 OMIMPS:193670 WHIM syndrome MONDO:8000008 Martsolf syndrome 1 MONDO:0023910 OMIM:212720 OMIMPS:212720 Martsolf syndrome MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0023961 OMIM:243180 OMIMPS:243180 visceral neuropathy, familial @@ -21797,5 +21798,12 @@ MONDO:0971141 localized pleural mesothelioma MONDO:0006292 Orphanet:675833 Orpha MONDO:0971142 diffused pleural mesothelioma MONDO:0006292 Orphanet:675837 Orphanet:50251 malignant mesothelioma MONDO:0971143 pleural mesothelioma in situ MONDO:0006292 Orphanet:675841 Orphanet:50251 malignant mesothelioma MONDO:0971154 hepatic cutaneous porphyria MONDO:0002520 Orphanet:659698 Orphanet:659694 hepatic porphyria +MONDO:0975753 papillary hemangioma MONDO:0971115 Orphanet:673543 Orphanet:673470 benign vascular tumor +MONDO:0975754 pseudomyogenic hemangioendothelioma MONDO:0971116 Orphanet:673556 Orphanet:673473 borderline vascular tumor +MONDO:0975755 eccrine angiomatous hamartoma MONDO:0971115 Orphanet:673568 Orphanet:673470 benign vascular tumor +MONDO:0975756 reactive angioendotheliomatosis MONDO:0971115 Orphanet:673574 Orphanet:673470 benign vascular tumor +MONDO:0975757 anastomosing haemangioma MONDO:0971115 Orphanet:675359 Orphanet:673470 benign vascular tumor +MONDO:0975758 microvenular haemangioma MONDO:0971115 Orphanet:675369 Orphanet:673470 benign vascular tumor +MONDO:0975759 acquired elastotic haemangioma MONDO:0971115 Orphanet:675597 Orphanet:673470 benign vascular tumor MONDO:8000008 Martsolf syndrome 1 MONDO:0015159 Orphanet:1387 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:8000011 visceral neuropathy, familial, 1, autosomal recessive MONDO:0017574 Orphanet:99811 Orphanet:2978 chronic intestinal pseudoobstruction diff --git a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv index b5f9c797..2811ed89 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -6479,7 +6479,6 @@ MONDO:0006949 MONDO:0002175 True retinal drusen degeneration of macula and poste MONDO:0006950 MONDO:0002311 True retinal vasculitis retinal vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006950 MONDO:0018882 True retinal vasculitis vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING SUPPORTED MONDO:0006951 MONDO:0002089 True retinal vein occlusion retinal vascular occlusion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0006952 MONDO:0005283 True retinopathy of prematurity retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006953 MONDO:0002901 True Rh isoimmunization blood group incompatibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006955 MONDO:0005267 True rheumatic heart disease heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0006960 MONDO:0001397 True sciatic neuropathy mononeuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -6926,7 +6925,6 @@ MONDO:0007587 MONDO:0015161 True external auditory canal atresia-vertical talus- MONDO:0007587 MONDO:0018234 True external auditory canal atresia-vertical talus-hypertelorism syndrome dysostosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007588 MONDO:0015159 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007588 MONDO:0019289 True extrasystoles-short stature-hyperpigmentation-microcephaly syndrome hyperpigmentation of the skin UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007589 MONDO:0019516 True exudative vitreoretinopathy 1 exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007592 MONDO:0020127 True familial recurrent peripheral facial palsy hereditary peripheral neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007603 MONDO:0002254 True Felty syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0007604 MONDO:0015161 True femoral-facial syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -8204,7 +8202,6 @@ MONDO:0009363 MONDO:0015161 True hydrocephaly-tall stature-joint laxity syndrome MONDO:0009364 MONDO:0000171 True muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscular dystrophy-dystroglycanopathy, type A UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0009365 MONDO:0006037 True hydrolethalus syndrome 1 hydrolethalus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0009366 MONDO:0002045 True normal pressure hydrocephalus communicating hydrocephalus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0009367 MONDO:0003847 True McKusick-Kaufman syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0009367 MONDO:0015161 True McKusick-Kaufman syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009368 MONDO:0000463 True urofacial syndrome type 1 Ochoa syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0009369 MONDO:0015193 True non-immune hydrops fetalis hydrops fetalis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10002,6 +9999,7 @@ MONDO:0011705 MONDO:0006359 True lymphangioleiomyomatosis neoplasm with perivasc MONDO:0011706 MONDO:0018307 True Kufor-Rakeb syndrome neurodegeneration with brain iron accumulation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0011708 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 36 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011709 MONDO:0016576 True split hand-foot malformation 5 split hand-foot malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0011710 MONDO:0000724 True specific language impairment 1 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011711 MONDO:0000724 True specific language impairment 2 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011715 MONDO:0019342 True Seckel syndrome 2 Seckel syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011716 MONDO:0019383 True acute hemorrhagic leukoencephalitis acute disseminated encephalomyelitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -19145,6 +19143,16 @@ MONDO:0971154 MONDO:0002520 True hepatic cutaneous porphyria hepatic porphyria U MONDO:0971171 MONDO:0015152 True muscular dystrophy, limb-girdle, autosomal recessive 29 autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971174 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 9b fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0971177 MONDO:0021094 True immunodeficiency 123 with HPV-related verrucosis immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0975746 MONDO:0019064 True spastic paraplegia 92, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0975747 MONDO:0004983 True spermatogenic failure 95 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0975749 MONDO:0021094 True immunodeficiency 125 immunodeficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0975753 MONDO:0971115 True papillary hemangioma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975754 MONDO:0971116 True pseudomyogenic hemangioendothelioma borderline vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975755 MONDO:0971115 True eccrine angiomatous hamartoma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975756 MONDO:0971115 True reactive angioendotheliomatosis benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975757 MONDO:0971115 True anastomosing haemangioma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975758 MONDO:0971115 True microvenular haemangioma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975759 MONDO:0971115 True acquired elastotic haemangioma benign vascular tumor UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1040033 MONDO:0019950 True congenital muscular dystrophy without intellectual disability congenital muscular dystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:8000006 MONDO:0023880 True WHIM syndrome 1 WHIM syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:8000008 MONDO:0015159 True Martsolf syndrome 1 multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21415,6 +21423,7 @@ MONDO:0005857 MONDO:0005896 False morbillivirus infectious disease Paramyxovirid MONDO:0005861 MONDO:0041806 False multidrug-resistant tuberculosis drug-resistant tuberculosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005866 MONDO:0020590 False Mycobacterium avium complex disease mycobacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005866 MONDO:0100120 False Mycobacterium avium complex disease vector-borne disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005867 MONDO:1030003 False Mycoplasma pneumoniae pneumonia Mycoplasmoides infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005868 MONDO:0012197 False myelophthisic anemia idiopathic aplastic anemia UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005871 MONDO:0004664 False Nematoda infectious disease helminthiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005874 MONDO:0024619 False neuroschistosomiasis central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21977,6 +21986,7 @@ MONDO:0006944 MONDO:0005240 False renal aminoaciduria kidney disorder UNSUPPORTE MONDO:0006946 MONDO:0001530 False renal osteodystrophy secondary hyperparathyroidism of renal origin UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006946 MONDO:0005520 False renal osteodystrophy rickets UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0006950 MONDO:0002708 False retinal vasculitis retinitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0006952 MONDO:1040041 False retinopathy of prematurity FZD4-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006955 MONDO:0021166 False rheumatic heart disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006956 MONDO:0005113 False Rickettsiosis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0006957 MONDO:0002233 False root caries enamel caries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -22448,6 +22458,7 @@ MONDO:0007577 MONDO:0003847 False esophageal ring, lower hereditary disease UNSU MONDO:0007581 MONDO:0003847 False exchondrosis of pinna, posterior hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007584 MONDO:0003847 False exostoses-anetodermia-brachydactyly type E syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007587 MONDO:0024623 False external auditory canal atresia-vertical talus-hypertelorism syndrome otorhinolaryngologic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007589 MONDO:1040041 False exudative vitreoretinopathy 1 FZD4-related exudative vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007590 MONDO:0019716 False hemifacial hypertrophy overgrowth syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007593 MONDO:0003847 False facial spasm hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007594 MONDO:0100240 False factor 5 excess with spontaneous thrombosis inherited thrombophilia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -22486,6 +22497,7 @@ MONDO:0007638 MONDO:0003847 False fucosidase regulator hereditary disease UNSUPP MONDO:0007639 MONDO:0016420 False fundus albipunctatus familial flecked retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007639 MONDO:0100443 False fundus albipunctatus RDH5-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007639 MONDO:0100444 False fundus albipunctatus RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007639 MONDO:1040055 False fundus albipunctatus PRPH2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007642 MONDO:0004868 False isolated agenesis of gallbladder biliary tract disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007643 MONDO:0003847 False gamma-A-globulin, defect in assembly of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007644 MONDO:0001341 False IgAD1 selective IgA deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22721,6 +22733,7 @@ MONDO:0007925 MONDO:0016904 False myelodysplastic syndrome associated with isola MONDO:0007931 MONDO:0700238 False vitelliform macular dystrophy 2 BEST1-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007933 MONDO:0011979 False vitelliform macular dystrophy 1 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007934 MONDO:0020242 False benign concentric annular macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007934 MONDO:1040036 False benign concentric annular macular dystrophy IMPG1-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007936 MONDO:0018102 False macular dystrophy, fenestrated sheen type corneal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007936 MONDO:0020242 False macular dystrophy, fenestrated sheen type hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007937 MONDO:0017625 False renal hypomagnesemia 2 familial primary hypomagnesemia with hypocalcuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22954,6 +22967,7 @@ MONDO:0008207 MONDO:0018230 False chondromalacia patellae skeletal dysplasia UNS MONDO:0008208 MONDO:0003847 False patella, familial recurrent dislocation of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008209 MONDO:0002254 False Char syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008209 MONDO:0015160 False Char syndrome multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008210 MONDO:1040055 False patterned macular dystrophy 1 PRPH2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008211 MONDO:0005495 False pseudoleprechaunism syndrome, Patterson type adrenal gland disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008212 MONDO:0003847 False Pechet factor deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008213 MONDO:0003847 False pectus excavatum hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23106,6 +23120,7 @@ MONDO:0008372 MONDO:0018998 False retinal aplasia Leber congenital amaurosis UNS MONDO:0008373 MONDO:0800461 False retinal arterial tortuosity COL4A1-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008375 MONDO:0100545 False retinal detachment hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008376 MONDO:0003847 False retinal venous beading hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008379 MONDO:1040051 False retinitis pigmentosa 10 IMPDH1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0000426 False retinoschisis, autosomal dominant autosomal dominant disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0004579 False retinoschisis, autosomal dominant retinoschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008382 MONDO:0019118 False retinoschisis, autosomal dominant inherited retinal dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23492,6 +23507,7 @@ MONDO:0008848 MONDO:0003847 False atrioventricular dissociation hereditary disea MONDO:0008850 MONDO:0015161 False Cooper-Jabs syndrome multiple congenital anomalies/dysmorphic syndrome without intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008853 MONDO:0001334 False Barber-Say syndrome hypertrichosis of eyelid UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008853 MONDO:0020159 False Barber-Say syndrome congenital entropion UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008854 MONDO:1040043 False Bardet-Biedl syndrome 1 BBS1-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008855 MONDO:0031520 False MHC class II deficiency familial severe combined immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0008856 MONDO:0019146 False immunodeficiency 27A inherited susceptibility to mycobacterial diseases UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008858 MONDO:0100545 False Behr syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23922,6 +23938,7 @@ MONDO:0009362 MONDO:0002254 False growth delay-hydrocephaly-lung hypoplasia synd MONDO:0009362 MONDO:0005087 False growth delay-hydrocephaly-lung hypoplasia syndrome respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009364 MONDO:0700070 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 myopathy caused by variation in POMT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009367 MONDO:1040050 False McKusick-Kaufman syndrome MKKS-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009371 MONDO:0019242 False 3-hydroxyisobutyric aciduria inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009371 MONDO:0037870 False 3-hydroxyisobutyric aciduria valine metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009374 MONDO:0003847 False hydroxyprolinemia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25421,6 +25438,7 @@ MONDO:0011365 MONDO:0005151 False blepharophimosis - intellectual disability syn MONDO:0011367 MONDO:0003847 False Acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011368 MONDO:0017895 False papillary thyroid Microcarcinoma familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011370 MONDO:0019353 False Stargardt disease 4 Stargardt disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011370 MONDO:1040053 False Stargardt disease 4 PROM1-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011371 MONDO:0018024 False hydroa vacciniforme, familial hydroa vacciniforme UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011371 MONDO:0100118 False hydroa vacciniforme, familial hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011372 MONDO:0016660 False microcephaly with simplified gyral pattern autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -25528,6 +25546,7 @@ MONDO:0011517 MONDO:0003847 False pseudohyperaldosteronism type 2 hereditary dis MONDO:0011517 MONDO:0024575 False pseudohyperaldosteronism type 2 pregnancy disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011518 MONDO:0003847 False Wiedemann-Steiner syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011520 MONDO:0020573 False systemic lupus erythematosus, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011523 MONDO:1040050 False Bardet-Biedl syndrome 6 MKKS-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011524 MONDO:0016537 False Dianzani autoimmune lymphoproliferative disease lymphoproliferative syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011525 MONDO:0015285 False Carney complex type 2 Carney complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011530 MONDO:0023599 False mesomelic dysplasia, Savarirayan type mesomelic dysplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25637,7 +25656,6 @@ MONDO:0011703 MONDO:0005429 False spongiform encephalopathy with neuropsychiatri MONDO:0011703 MONDO:0100198 False spongiform encephalopathy with neuropsychiatric features Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011703 MONDO:0100545 False spongiform encephalopathy with neuropsychiatric features hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011706 MONDO:0000828 False Kufor-Rakeb syndrome juvenile-onset Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011710 MONDO:0000724 False specific language impairment 1 specific language impairment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011712 MONDO:0003847 False van der Woude syndrome 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011712 MONDO:0019508 False van der Woude syndrome 2 van der Woude syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011713 MONDO:0018453 False melanoma-pancreatic cancer syndrome familial atypical multiple mole melanoma syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25793,6 +25811,7 @@ MONDO:0011951 MONDO:0017161 False amyotrophic lateral sclerosis type 6 frontotem MONDO:0011953 MONDO:0100198 False familial acute necrotizing encephalopathy Mendelian encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011955 MONDO:0005148 False diabetes mellitus, noninsulin-dependent, 4 type 2 diabetes mellitus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011955 MONDO:0015967 False diabetes mellitus, noninsulin-dependent, 4 monogenic diabetes UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011957 MONDO:1040053 False retinal macular dystrophy type 2 PROM1-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011958 MONDO:0003847 False bile and pancreatic ducts, complete absence of hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011959 MONDO:0002254 False sweet syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011959 MONDO:0005554 False sweet syndrome rheumatic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25800,6 +25819,7 @@ MONDO:0011961 MONDO:0018213 False hereditary sensory and autonomic neuropathy ty MONDO:0011963 MONDO:0009480 False Joubert syndrome 2 Joubert syndrome with oculorenal defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011972 MONDO:0003847 False ovarian hyperstimulation syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011973 MONDO:0003847 False zinc deficiency, transient neonatal hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011974 MONDO:1040055 False retinitis pigmentosa 7 PRPH2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011975 MONDO:0700021 False paternal uniparental disomy of chromosome 14 chromosome 14 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011975 MONDO:0700086 False paternal uniparental disomy of chromosome 14 uniparental disomy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011978 MONDO:0006025 False CoQ-responsive OXPHOS deficiency autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26292,6 +26312,7 @@ MONDO:0012790 MONDO:0017161 False amyotrophic lateral sclerosis type 10 frontote MONDO:0012791 MONDO:0002254 False mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012794 MONDO:0002051 False ANE syndrome integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012795 MONDO:0003847 False hypophosphatemic rickets and hyperparathyroidism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012796 MONDO:1040052 False retinitis pigmentosa 41 PROM1-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012798 MONDO:0003847 False deafness, unilateral, with delayed endolymphatic hydrops hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012800 MONDO:0011114 False trichoepithelioma, multiple familial, 2 familial multiple trichoepithelioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012809 MONDO:0003847 False histiocytoma, Angiomatoid fibrous hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26394,6 +26415,7 @@ MONDO:0012961 MONDO:0010255 False type 1 diabetes mellitus 23 diabetes mellitus, MONDO:0012967 MONDO:0003689 False hemolytic anemia due to adenylate kinase deficiency familial hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012980 MONDO:0005172 False endocrine-cerebro-osteodysplasia syndrome skeletal system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012982 MONDO:0019216 False episodic ataxia type 6 inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012983 MONDO:1040056 False cone-rod dystrophy 12 PROM1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012984 MONDO:0015905 False PHARC syndrome syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012986 MONDO:0100545 False bilateral parasagittal parieto-occipital polymicrogyria hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012987 MONDO:0011096 False agammaglobulinemia 6, autosomal recessive autosomal agammaglobulinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26497,9 +26519,12 @@ MONDO:0013122 MONDO:0000365 False glaucoma 3, primary congenital, D primary cong MONDO:0013122 MONDO:0100236 False glaucoma 3, primary congenital, D LTBP2-related ocular dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013124 MONDO:0020573 False pelvic organ prolapse, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013129 MONDO:0000455 False cone dystrophy 4 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013129 MONDO:1040028 False cone dystrophy 4 PDE6C-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013130 MONDO:0016764 False isolated microphthalmia 4 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013134 MONDO:0005338 False glaucoma 1, open angle, O open-angle glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013134 MONDO:0018174 False glaucoma 1, open angle, O hereditary glaucoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013137 MONDO:0043218 False choroidal dystrophy, central areolar 2 neurovascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013137 MONDO:1040055 False choroidal dystrophy, central areolar 2 PRPH2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013138 MONDO:0004900 False vertigo, benign recurrent, 2 peripheral vertigo UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013149 MONDO:0003847 False hydrops fetalis, nonimmune, with gracile bones and dysmorphic features hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013150 MONDO:0002254 False parkinsonism-dystonia, infantile syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26574,6 +26599,8 @@ MONDO:0013268 MONDO:0002051 False frontonasal dysplasia with alopecia and genita MONDO:0013270 MONDO:0002320 False Rett syndrome, congenital variant congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013270 MONDO:0017746 False Rett syndrome, congenital variant atypical Rett syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013270 MONDO:0100040 False Rett syndrome, congenital variant FOXG1 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013274 MONDO:0022410 False retinitis pigmentosa 51 retinal ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013274 MONDO:1040049 False retinitis pigmentosa 51 TTC8-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013275 MONDO:0006506 False hemolytic anemia due to glucophosphate isomerase deficiency congenital nonspherocytic hemolytic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013275 MONDO:0020585 False hemolytic anemia due to glucophosphate isomerase deficiency anemia due to erythrocyte enzyme disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013276 MONDO:0003847 False Reynolds syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26596,6 +26623,7 @@ MONDO:0013303 MONDO:0020573 False autoimmune disease, susceptibility to, 6 inher MONDO:0013309 MONDO:0016884 False chromosome 2p12-p11.2 deletion syndrome partial deletion of the short arm of chromosome 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013310 MONDO:0005039 False congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013314 MONDO:0700241 False retinitis pigmentosa 56 IMPG2-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013315 MONDO:1040034 False retinitis pigmentosa 57 PDE6G-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013316 MONDO:0020242 False occult macular dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013317 MONDO:0007263 False torsade-de-pointes syndrome with short coupling interval cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013318 MONDO:0003847 False early repolarization associated with ventricular fibrillation hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26660,6 +26688,7 @@ MONDO:0013450 MONDO:0002320 False congenital stationary night blindness 1D conge MONDO:0013452 MONDO:0003847 False multisystemic smooth muscle dysfunction syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013452 MONDO:0005385 False multisystemic smooth muscle dysfunction syndrome vascular disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013452 MONDO:0021189 False multisystemic smooth muscle dysfunction syndrome intestinal motility disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013454 MONDO:1040051 False Leber congenital amaurosis 11 IMPDH1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013456 MONDO:0001700 False constitutional megaloblastic anemia with severe neurologic disease megaloblastic anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013458 MONDO:0005149 False hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome pulmonary hypertension UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013459 MONDO:0800064 False osteogenesis imperfecta type 10 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26669,6 +26698,8 @@ MONDO:0013462 MONDO:0003847 False fucosyltransferase 6 deficiency hereditary dis MONDO:0013463 MONDO:0000119 False congenital heart defects, multiple types, 6 congenital heart defects, multiple types UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013463 MONDO:0019443 False congenital heart defects, multiple types, 6 dextro-looped transposition of the great arteries UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013465 MONDO:0800392 False achromatopsia 4 GNAT2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013468 MONDO:0002320 False retinitis pigmentosa 59 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0013468 MONDO:1040054 False retinitis pigmentosa 59 DHDDS-CDG UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013469 MONDO:0800394 False retinitis pigmentosa 38 MERTK-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013473 MONDO:0003847 False Hirschsprung disease, cardiac defects, and autonomic dysfunction hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013480 MONDO:0018101 False renal hypomagnesemia 6 familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26953,6 +26984,7 @@ MONDO:0014011 MONDO:0019306 False autosomal recessive congenital ichthyosis 10 c MONDO:0014013 MONDO:0004573 False maternal riboflavin deficiency ariboflavinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014022 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014025 MONDO:0019079 False lower motor neuron syndrome with late-adult onset proximal spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014026 MONDO:1040035 False congenital stationary night blindness 1F LRIT3-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014027 MONDO:0018914 False hypotrichosis 11 hypotrichosis simplex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014029 MONDO:0800064 False osteogenesis imperfecta type 14 osteogenesis imperfecta and a reduction of bone mineral density. UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014031 MONDO:0002254 False microcephalic primordial dwarfism, Alazami type syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27121,6 +27153,7 @@ MONDO:0014362 MONDO:0043678 False chromosome 16 inversion, 0.45-Mb chromosome in MONDO:0014362 MONDO:0700023 False chromosome 16 inversion, 0.45-Mb chromosome 16 disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014367 MONDO:0700262 False Aicardi-Goutieres syndrome 7 IFIH1-related type 1 interferonopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014371 MONDO:0002320 False developmental and epileptic encephalopathy, 23 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0014372 MONDO:1040038 False cone-rod dystrophy 19 TTLL5-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014373 MONDO:0019006 False nephrotic syndrome, type 10 familial idiopathic steroid-resistant nephrotic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014375 MONDO:0005020 False congenital diarrhea 7 with exudative enteropathy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014377 MONDO:0018614 False developmental and epileptic encephalopathy, 24 undetermined early-onset epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27153,11 +27186,18 @@ MONDO:0014419 MONDO:0100545 False ataxia - intellectual disability - oculomotor MONDO:0014420 MONDO:0003847 False short stature due to primary acid-labile subunit deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014421 MONDO:0002525 False glucocorticoid resistance inherited lipid metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014431 MONDO:0000816 False LIPE-related familial partial lipodystrophy abdominal obesity-metabolic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0014432 MONDO:1040048 False Bardet-Biedl syndrome 2 BBS2-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014433 MONDO:1040044 False Bardet-Biedl syndrome 4 BBS4-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014434 MONDO:1040047 False Bardet-Biedl syndrome 5 BBS5-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014435 MONDO:1040042 False Bardet-Biedl syndrome 7 BBS7-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014436 MONDO:1040049 False Bardet-Biedl syndrome 8 TTC8-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014437 MONDO:0700236 False Bardet-Biedl syndrome 9 BBS9-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014438 MONDO:0700237 False Bardet-Biedl syndrome 10 BBS10-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014439 MONDO:0002320 False Bardet-Biedl syndrome 11 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014439 MONDO:0016153 False Bardet-Biedl syndrome 11 qualitative or quantitative defects of TRIM32 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014440 MONDO:1040045 False Bardet-Biedl syndrome 12 BBS12-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014442 MONDO:0100451 False Bardet-Biedl syndrome 14 CEP290-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014445 MONDO:1040046 False Bardet-Biedl syndrome 17 LZTFL1-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014448 MONDO:0003847 False hyperthyroxinemia, familial dysalbuminemic hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014448 MONDO:0004425 False hyperthyroxinemia, familial dysalbuminemic hyperthyroidism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014448 MONDO:0005333 False hyperthyroxinemia, familial dysalbuminemic hyperthyroxinemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27195,6 +27235,7 @@ MONDO:0014501 MONDO:0019118 False macular degeneration, early-onset inherited re MONDO:0014505 MONDO:0018097 False developmental and epileptic encephalopathy, 27 West syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014507 MONDO:0018230 False Catel-Manzke syndrome skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014508 MONDO:0011979 False vitelliform macular dystrophy 4 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014508 MONDO:1040037 False vitelliform macular dystrophy 4 IMPG1-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014509 MONDO:0011979 False vitelliform macular dystrophy 5 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014509 MONDO:0700242 False vitelliform macular dystrophy 5 IMPG2-related dominant retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014510 MONDO:0005328 False fatty acyl-CoA reductase 1 deficiency eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -27309,9 +27350,12 @@ MONDO:0014686 MONDO:0002254 False short stature, microcephaly, and endocrine dys MONDO:0014686 MONDO:0005039 False short stature, microcephaly, and endocrine dysfunction reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014686 MONDO:0005151 False short stature, microcephaly, and endocrine dysfunction endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014686 MONDO:0800063 False short stature, microcephaly, and endocrine dysfunction primordial dwarfism and slender bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014687 MONDO:1040040 False retinitis pigmentosa 73 HGSNAT-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014688 MONDO:0018342 False short-rib thoracic dysplasia 14 with polydactyly Joubert syndrome with Jeune asphyxiating thoracic dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014690 MONDO:0005570 False dyskeratosis congenita, autosomal dominant 6 hematologic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0014690 MONDO:0100569 False dyskeratosis congenita, autosomal dominant 6 ACD-related short telomere syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014692 MONDO:0022410 False retinitis pigmentosa 74 retinal ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014692 MONDO:1040048 False retinitis pigmentosa 74 BBS2-related ciliopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014694 MONDO:0010180 False spondylocostal dysostosis 6, autosomal recessive autosomal recessive spondylocostal dysostosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014698 MONDO:0003847 False microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014698 MONDO:0005328 False microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29706,8 +29750,8 @@ MONDO:0019375 MONDO:0100545 False megalencephaly-polymicrogyria-postaxial polyda MONDO:0019375 MONDO:1040002 False megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome PIK3CA-related overgrowth spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019376 MONDO:0002282 False West-Nile encephalitis West Nile fever UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019376 MONDO:0020601 False West-Nile encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019377 MONDO:0005113 False Mycoplasma encephalitis bacterial infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019377 MONDO:0020067 False Mycoplasma encephalitis infectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019377 MONDO:1030003 False Mycoplasma encephalitis Mycoplasmoides infection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019378 MONDO:0020601 False la Crosse encephalitis mosquito-borne viral encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019378 MONDO:0021641 False la Crosse encephalitis Bunyaviridae infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019380 MONDO:0005643 False western equine encephalitis Alphavirus infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31377,6 +31421,7 @@ MONDO:0024539 MONDO:0100441 False choroidal dystrophy, central areolar, 1 GUCY2D MONDO:0024545 MONDO:0016145 False Miyoshi muscular dystrophy 1 qualitative or quantitative defects of dysferlin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024551 MONDO:0020605 False X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024561 MONDO:0011979 False vitelliform macular dystrophy 3 adult-onset foveomacular vitelliform dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0024561 MONDO:1040055 False vitelliform macular dystrophy 3 PRPH2-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024563 MONDO:0020573 False herpes simplex encephalitis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024566 MONDO:0100545 False febrile seizures, familial, 11 hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0024569 MONDO:0014720 False optic atrophy 8 autosomal dominant optic atrophy plus syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -33400,7 +33445,7 @@ MONDO:0800176 MONDO:0029000 False black widow spider envenomation poisoning UNSU MONDO:0800177 MONDO:0021178 False frostbite injury UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800187 MONDO:0800174 False immunodeficiency 83, susceptibility to viral infections encephalitis, acute, infection-induced, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800188 MONDO:0020573 False malignant hyperthermia, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800196 MONDO:0000455 False achromatopsia 5 cone dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800196 MONDO:0013129 False achromatopsia 5 cone dystrophy 4 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800197 MONDO:0001703 False achromatopsia 6 color vision disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800198 MONDO:0003847 False alopecia universalis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800200 MONDO:0019942 False arthrogryposis, distal, type 2B4 distal arthrogryposis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33954,6 +33999,11 @@ MONDO:0971175 MONDO:0016333 False cardiomyopathy, dilated, 2K familial dilated c MONDO:0971176 MONDO:0009299 False ovarian dysgenesis 11 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0971178 MONDO:0004691 False polycystic kidney disease 8 autosomal dominant polycystic kidney disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0971179 MONDO:0002254 False arterial tortuosity-bone fragility syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975705 MONDO:0700092 False otofacial neurodevelopmental syndrome neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975745 MONDO:0700092 False neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975748 MONDO:0020573 False Parkinson disease 26, autosomal dominant, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975751 MONDO:0002254 False brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0975752 MONDO:0024296 False littoral cell hemangioma of the spleen vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1010000 MONDO:0005550 False pythiosis infectious disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1030001 MONDO:0020573 False epilepsy, juvenile absence, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:1030002 MONDO:0022800 False dysplasia of the proximal femoral epiphyses type 2 collagenopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index 26798f92..782d592e 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -1,8 +1,3 @@ mondo_id mondo_label xref xref_source original_label definition parents ID LABEL A oboInOwl:hasDbXref >A oboInOwl:source SPLIT=| A IAO:0000115 SC % -MONDO:0975705 otofacial neurodevelopmental syndrome OMIM:620910 MONDO:equivalentTo otofacial neurodevelopmental syndrome -MONDO:0975745 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 OMIM:620888 MONDO:equivalentTo neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 -MONDO:0975746 spastic paraplegia 92, autosomal recessive OMIM:620911 MONDO:equivalentTo spastic paraplegia 92, autosomal recessive MONDO:0019064 -MONDO:0975747 spermatogenic failure 95 OMIM:620917 MONDO:equivalentTo spermatogenic failure 95 MONDO:0004983 -MONDO:0975748 parkinson disease 26, autosomal dominant, susceptibility to OMIM:620923 MONDO:equivalentTo parkinson disease 26, autosomal dominant, susceptibility to MONDO:0005180 -MONDO:0975749 immunodeficiency 125 OMIM:620926 MONDO:equivalentTo immunodeficiency 125 MONDO:0021094 +MONDO:0975761 immunodeficiency 126, susceptibility to OMIM:620931 MONDO:equivalentTo immunodeficiency 126, susceptibility to MONDO:0021094 diff --git a/src/ontology/slurp/ordo.tsv b/src/ontology/slurp/ordo.tsv index 2da5208a..af6ed910 100644 --- a/src/ontology/slurp/ordo.tsv +++ b/src/ontology/slurp/ordo.tsv @@ -13,12 +13,3 @@ MONDO:0971109 isolated congenital femoral bifurcation Orphanet:667589 MONDO:equi MONDO:0971120 syndrome with congenital phagocyte functional defect as a major feature Orphanet:674648 MONDO:equivalentTo Syndrome with congenital phagocyte functional defect as a major feature MONDO:8000033|MONDO:0015978 group of disorders MONDO:0971122 non-syndromic congenital phagocyte functional defect Orphanet:674896 MONDO:equivalentTo Non-syndromic congenital phagocyte functional defect MONDO:8000033|MONDO:0015978 group of disorders MONDO:0971144 primary benign peritoneal tumor Orphanet:676030 MONDO:equivalentTo Primary benign peritoneal tumor MONDO:8000033|MONDO:0015682 group of disorders -MONDO:0975751 brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to mef2c mutation Orphanet:664416 MONDO:equivalentTo Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation MONDO:0013266|MONDO:8000031 subtype of a disorder -MONDO:0975752 littoral cell hemangioma of the spleen Orphanet:673538 MONDO:equivalentTo Littoral cell hemangioma of the spleen MONDO:0000001|MONDO:0971115|MONDO:8000034 disorder -MONDO:0975753 papillary hemangioma Orphanet:673543 MONDO:equivalentTo Papillary hemangioma MONDO:0971115|MONDO:8000034|MONDO:0000001 disorder -MONDO:0975754 pseudomyogenic hemangioendothelioma Orphanet:673556 MONDO:equivalentTo Pseudomyogenic hemangioendothelioma MONDO:0971116|MONDO:8000034|MONDO:0018729|MONDO:0000001 disorder -MONDO:0975755 eccrine angiomatous hamartoma Orphanet:673568 MONDO:equivalentTo Eccrine angiomatous hamartoma MONDO:8000034|MONDO:0000001|MONDO:0019300|MONDO:0971115 disorder -MONDO:0975756 reactive angioendotheliomatosis Orphanet:673574 MONDO:equivalentTo Reactive angioendotheliomatosis MONDO:8000034|MONDO:0971115|MONDO:0000001 disorder -MONDO:0975757 anastomosing haemangioma Orphanet:675359 MONDO:equivalentTo Anastomosing haemangioma MONDO:8000034|MONDO:0971115|MONDO:0000001|MONDO:0018729 disorder -MONDO:0975758 microvenular haemangioma Orphanet:675369 MONDO:equivalentTo Microvenular haemangioma MONDO:0971115|MONDO:8000034|MONDO:0000001 disorder -MONDO:0975759 acquired elastotic haemangioma Orphanet:675597 MONDO:equivalentTo Acquired elastotic haemangioma MONDO:0971115|MONDO:8000034|MONDO:0000001 disorder diff --git a/src/ontology/unmapped/omim-unmapped.owl b/src/ontology/unmapped/omim-unmapped.owl index c0430698..55fd9f7f 100644 --- a/src/ontology/unmapped/omim-unmapped.owl +++ b/src/ontology/unmapped/omim-unmapped.owl @@ -8511,6 +8511,12 @@ + + + + + + @@ -14283,6 +14289,12 @@ + + + + + + @@ -32360,24 +32372,18 @@ - - - - - - - + angiotensin 1 angiotensin 2 - iga nephropathy, progression to renal failure in, susceptibility to AGT angiotensinogen serpina8 This term has one or more labels that end with ', INCLUDED'. AGT + @@ -61893,26 +61899,6 @@ - - - - - - - - - - sebaceous tumors, somatic - LEF1 - lymphoid enhancer-binding factor 1 - tcf1-alpha - transcription factor, t cell-specific, 1, alpha - This term has one or more labels that end with ', INCLUDED'. - LEF1 - - - - @@ -108447,6 +108433,18 @@ + + + + + + + + + + + + renal tubular dysgenesis with choanal atresia and athelia RTD primitive renal tubule syndrome @@ -133860,6 +133858,7 @@ syt/ssx1 fusion gene syt/ssx2 fusion gene SS18 + ss18 subunit of baf chromatin remodeling complex synovial sarcoma translocation, chromosome 18 synovial sarcoma, translocated to 10 chromosome syt @@ -197104,6 +197103,7 @@ + @@ -198051,6 +198051,30 @@ + + + + + + + + + + + + + + + + PTCRA + pre-t-cell receptor, alpha-chain precursor + pt-alpha + PTCRA + + + + + @@ -324352,9 +324376,10 @@ - CONRIBA + CLN15 + ceroid lipofuscinosis, neuronal, 15 neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities - neurodegeneration, childhood-onset, with hypotonia, respiratory insufficiency, and brain imaging abnormalities + ceroid lipofuscinosis, neuronal, 15 @@ -340844,6 +340869,29 @@ + + + + + + + + + + + + + + + + + IMD126 + immunodeficiency 126, susceptibility to + immunodeficiency 126, susceptibility to + + + +