diff --git a/docs/metrics/doid.md b/docs/metrics/doid.md index 52c51639..35520e11 100644 --- a/docs/metrics/doid.md +++ b/docs/metrics/doid.md @@ -2,16 +2,16 @@ **IRI:** http://purl.obolibrary.org/obo/mondo/sources/doid.owl -**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-10-04/doid.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/doid.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 28 | -| Axioms | 133598 | -| Logical axioms | 16341 | -| Classes | 13230 | +| Axioms | 133759 | +| Logical axioms | 16363 | +| Classes | 13250 | | Object properties | 0 | | Data properties | 0 | | Individuals | 0 | @@ -32,11 +32,11 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 103998 | +| AnnotationAssertion | 104117 | | SubAnnotationPropertyOf | 2 | | DisjointClasses | 26 | -| Declaration | 13257 | -| SubClassOf | 16315 | +| Declaration | 13277 | +| SubClassOf | 16337 | #### Entity namespaces: axiom counts by namespace @@ -45,8 +45,8 @@ | ------ | ----- | | oboInOwl | 12 | | owl | 2 | -| DOID | 11672 | -| HP | 114 | +| DOID | 11686 | +| HP | 116 | | xsd | 1 | | CL | 62 | | skos | 5 | @@ -60,7 +60,7 @@ | rdf | 1 | | CHEBI | 90 | | IAO | 2 | -| UBERON | 410 | +| UBERON | 414 | | SO | 17 | | obo | 191 | | GENO | 10 | @@ -71,7 +71,7 @@ | Metric | Value | | ------ | ----- | -| Class | 46072 | +| Class | 46136 | 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/gard.md b/docs/metrics/gard.md index 278e9d56..b10f3c3c 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/2024-10-04/gard.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/gard.owl ### Entities and axioms diff --git a/docs/metrics/icd10cm.md b/docs/metrics/icd10cm.md index 5dcd788a..32d4b2fa 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/2024-10-04/icd10cm.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd10cm.owl ### Entities and axioms diff --git a/docs/metrics/icd10who.md b/docs/metrics/icd10who.md index 2b635e8e..c728a719 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/2024-10-04/icd10who.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd10who.owl ### Entities and axioms diff --git a/docs/metrics/icd11foundation.md b/docs/metrics/icd11foundation.md index c8762a78..31bac8e8 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/2024-10-04/icd11foundation.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/icd11foundation.owl ### Entities and axioms diff --git a/docs/metrics/ncit.md b/docs/metrics/ncit.md index 528ca712..7a54390c 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/2024-10-04/ncit.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/ncit.owl ### Entities and axioms diff --git a/docs/metrics/omim.md b/docs/metrics/omim.md index b80053a1..d5ee81ac 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/2024-10-04/omim.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/omim.owl ### Entities and axioms | Metric | Value | | ------ | ----- | | Annotation properties | 21 | -| Axioms | 355754 | -| Logical axioms | 26248 | -| Classes | 22976 | +| Axioms | 356115 | +| Logical axioms | 26262 | +| Classes | 23005 | | Object properties | 7 | | Data properties | 0 | | Individuals | 0 | @@ -32,23 +32,23 @@ | Metric | Value | | ------ | ----- | -| AnnotationAssertion | 306504 | +| AnnotationAssertion | 306822 | | SubAnnotationPropertyOf | 2 | -| Declaration | 23000 | -| SubClassOf | 26248 | +| Declaration | 23029 | +| SubClassOf | 26262 | #### Entity namespaces: axiom counts by namespace | Metric | Value | | ------ | ----- | -| prefix_unknown | 21534 | +| prefix_unknown | 21566 | | oboInOwl | 4 | | owl | 2 | | xsd | 1 | | skos | 1 | | rdfs | 2 | -| CHR | 1445 | +| CHR | 1442 | | OMO | 1 | | MONDO | 1 | | rdf | 1 | @@ -62,8 +62,8 @@ | Metric | Value | | ------ | ----- | -| Class | 75462 | -| ObjectSomeValuesFrom | 21276 | +| Class | 75522 | +| ObjectSomeValuesFrom | 21301 | 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 f441c10f..b8f80e14 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/2024-10-04/ordo.owl +**Version IRI:** http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/ordo.owl ### Entities and axioms diff --git a/docs/odk-workflows/ManageDocumentation.md b/docs/odk-workflows/ManageDocumentation.md index 402e9ca2..d37cc229 100644 --- a/docs/odk-workflows/ManageDocumentation.md +++ b/docs/odk-workflows/ManageDocumentation.md @@ -38,9 +38,9 @@ The documentation is _not_ automatically updated from the Markdown, and needs to If everything was successful, you will see a message similar to this one: ``` - INFO - Your documentation should shortly be available at: https://monarch-initiative.github.io/mondo-ingest/ + INFO - Your documentation should shortly be available at: https://monarch-initiative.github.io/noname/ ``` -3. Just to double check, you can now navigate to your documentation pages (usually https://monarch-initiative.github.io/mondo-ingest/). +3. Just to double check, you can now navigate to your documentation pages (usually https://monarch-initiative.github.io/noname/). Just make sure you give GitHub 2-5 minutes to build the pages! diff --git a/docs/odk-workflows/ReleaseWorkflow.md b/docs/odk-workflows/ReleaseWorkflow.md index 5d31a448..2d0778f1 100644 --- a/docs/odk-workflows/ReleaseWorkflow.md +++ b/docs/odk-workflows/ReleaseWorkflow.md @@ -44,7 +44,7 @@ Once your [CI checks](ContinuousIntegration.md) have passed, and your reviews ar ## Create a GitHub release -1. Go to your releases page on GitHub by navigating to your repository, and then clicking on releases (usually on the right, for example: https://github.com/monarch-initiative/mondo-ingest/releases). Then click "Draft new release" +1. Go to your releases page on GitHub by navigating to your repository, and then clicking on releases (usually on the right, for example: https://github.com/monarch-initiative/noname/releases). Then click "Draft new release" 1. As the tag version you **need to choose the date on which your ontologies were build.** You can find this, for example, by looking at the `mondo-ingest.obo` file and check the `data-version:` property. The date needs to be prefixed with a `v`, so, for example `v2020-02-06`. 1. You can write whatever you want in the release title, but we typically write the date again. The description underneath should contain a concise list of changes or term additions. 1. Click "Publish release". Done. diff --git a/docs/reports/mapped_deprecated.md b/docs/reports/mapped_deprecated.md index 55683d75..b8bd8d42 100644 --- a/docs/reports/mapped_deprecated.md +++ b/docs/reports/mapped_deprecated.md @@ -2,8 +2,8 @@ | Ontology | Tot deprecated in Mondo | |:----------------------------------------------------------|--------------------------:| | [NCIT](./mapped_deprecated_ncit.md) | 5 | -| [OMIM](./mapped_deprecated_omim.md) | 42 | -| [ORDO](./mapped_deprecated_ordo.md) | 167 | +| [OMIM](./mapped_deprecated_omim.md) | 43 | +| [ORDO](./mapped_deprecated_ordo.md) | 168 | | [GARD](./mapped_deprecated_gard.md) | 0 | | [ICD11FOUNDATION](./mapped_deprecated_icd11foundation.md) | 0 | | [ICD10CM](./mapped_deprecated_icd10cm.md) | 0 | diff --git a/docs/reports/mapped_deprecated_omim.md b/docs/reports/mapped_deprecated_omim.md index c49e9812..189b559c 100644 --- a/docs/reports/mapped_deprecated_omim.md +++ b/docs/reports/mapped_deprecated_omim.md @@ -7,6 +7,7 @@ | ID | A oboInOwl:hasDbXref | >A oboInOwl:source | | MONDO:0000911 | OMIM:613740 | MONDO:equivalentObsolete | | MONDO:0007061 | OMIM:102590 | MONDO:equivalentObsolete | +| MONDO:0007066 | OMIM:102800 | MONDO:equivalentObsolete | | MONDO:0007602 | OMIM:134700 | MONDO:equivalentObsolete | | MONDO:0007659 | OMIM:137560 | MONDO:equivalentObsolete | | MONDO:0007779 | OMIM:145410 | MONDO:equivalentObsolete | diff --git a/docs/reports/mapped_deprecated_ordo.md b/docs/reports/mapped_deprecated_ordo.md index 5cc6d6ee..b94f6805 100644 --- a/docs/reports/mapped_deprecated_ordo.md +++ b/docs/reports/mapped_deprecated_ordo.md @@ -22,6 +22,7 @@ | MONDO:0015255 | Orphanet:1256 | MONDO:equivalentObsolete | | MONDO:0015297 | Orphanet:137653 | MONDO:equivalentObsolete | | MONDO:0015343 | Orphanet:139420 | MONDO:equivalentObsolete | +| MONDO:0015424 | Orphanet:1420 | MONDO:equivalentObsolete | | MONDO:0015551 | Orphanet:158665 | MONDO:equivalentObsolete | | MONDO:0015560 | Orphanet:158796 | MONDO:equivalentObsolete | | MONDO:0015591 | Orphanet:163903 | MONDO:equivalentObsolete | diff --git a/docs/reports/migrate.md b/docs/reports/migrate.md index f7f08dda..806beb52 100644 --- a/docs/reports/migrate.md +++ b/docs/reports/migrate.md @@ -2,10 +2,10 @@ | Ontology | Tot | |:------------------------------------------------|:------| | [GARD](./migrate_gard.md) | 9,370 | +| [DOID](./migrate_doid.md) | 50 | | [ICD11FOUNDATION](./migrate_icd11foundation.md) | 4,593 | -| [DOID](./migrate_doid.md) | 37 | +| [OMIM](./migrate_omim.md) | 34 | | [NCIT](./migrate_ncit.md) | 2,211 | -| [OMIM](./migrate_omim.md) | 15 | | [ORDO](./migrate_ordo.md) | 13 | | [ICD10WHO](./migrate_icd10who.md) | 119 | | [ICD10CM](./migrate_icd10cm.md) | 1,894 | diff --git a/docs/reports/migrate_doid.md b/docs/reports/migrate_doid.md index 786dafdf..989948b4 100644 --- a/docs/reports/migrate_doid.md +++ b/docs/reports/migrate_doid.md @@ -21,7 +21,7 @@ | MONDO:0975764 | preaxial polydactyly type iv | DOID:0060985 | MONDO:equivalentTo | preaxial polydactyly type IV | | MONDO:0021003|MONDO:0000426 | | MONDO:0975765 | preaxial polydactyly ii | DOID:0060986 | MONDO:equivalentTo | preaxial polydactyly II | | MONDO:0000426|MONDO:0021003 | | MONDO:0975766 | preaxial polydactyly i | DOID:0060987 | MONDO:equivalentTo | preaxial polydactyly I | | MONDO:0021003|MONDO:0006025 | -| MONDO:0975767 | pancreatic agenesis 2 | DOID:0060988 | MONDO:equivalentTo | pancreatic agenesis 2 | | MONDO:0002356|MONDO:0006025 | +| MONDO:0975767 | pancreatic agenesis 2 | DOID:0060988 | MONDO:equivalentTo | pancreatic agenesis 2 | | MONDO:0009832|MONDO:0006025 | | MONDO:0975768 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | DOID:0060989 | MONDO:equivalentTo | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | | MONDO:0002254|MONDO:0000426 | | MONDO:0975769 | congenital disorder of deglycosylation | DOID:0060991 | MONDO:equivalentTo | congenital disorder of deglycosylation | | MONDO:0019214 | | MONDO:0975770 | bent bone dysplasia syndrome 1 | DOID:0060992 | MONDO:equivalentTo | bent bone dysplasia syndrome 1 | | MONDO:0000833|MONDO:0000426 | @@ -41,4 +41,17 @@ | MONDO:0975784 | autosomal dominant nonsyndromic deafness 88 | DOID:0070611 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 88 | | MONDO:0019587 | | MONDO:0975785 | autosomal dominant nonsyndromic deafness 89 | DOID:0070612 | MONDO:equivalentTo | autosomal dominant nonsyndromic deafness 89 | | MONDO:0019587 | | MONDO:0975786 | familial renal glucosuria | DOID:0070613 | MONDO:equivalentTo | familial renal glucosuria | | MONDO:0000426|MONDO:0009297|MONDO:0006025 | -| MONDO:0975787 | chromosome 11 partial duplication syndrome | DOID:0070614 | MONDO:equivalentTo | chromosome 11 partial duplication syndrome | | MONDO:0000762 | \ No newline at end of file +| MONDO:0975787 | chromosome 11 partial duplication syndrome | DOID:0070614 | MONDO:equivalentTo | chromosome 11 partial duplication syndrome | | MONDO:0000762 | +| MONDO:0975812 | sertoli cell-only syndrome | DOID:0050457 | MONDO:equivalentTo | Sertoli cell-only syndrome | | MONDO:0005372 | +| MONDO:0975813 | autosomal dominant isolated macrothrombocytopenia 2 | DOID:0060995 | MONDO:equivalentTo | autosomal dominant isolated macrothrombocytopenia 2 | | MONDO:0002049|MONDO:0000426 | +| MONDO:0975814 | poor metabolism of thiopurines 2 | DOID:0060996 | MONDO:equivalentTo | poor metabolism of thiopurines 2 | | MONDO:0012503|MONDO:0000426 | +| MONDO:0975815 | striatal degeneration 2 | DOID:0060998 | MONDO:equivalentTo | striatal degeneration 2 | | MONDO:0007803|MONDO:0000426 | +| MONDO:0975816 | mitochondrial trifunctional protein deficiency 2 | DOID:0060999 | MONDO:equivalentTo | mitochondrial trifunctional protein deficiency 2 | | MONDO:0012172 | +| MONDO:0975817 | glycine encephalopathy 2 | DOID:0061001 | MONDO:equivalentTo | glycine encephalopathy 2 | | MONDO:0011612 | +| MONDO:0975818 | congenital amegakaryocytic thrombocytopenia 2 | DOID:0061002 | MONDO:equivalentTo | congenital amegakaryocytic thrombocytopenia 2 | | MONDO:0002049|MONDO:0006025 | +| MONDO:0975819 | pancreatic agenesis 1 | DOID:0061003 | MONDO:equivalentTo | pancreatic agenesis 1 | | MONDO:0009832|MONDO:0006025 | +| MONDO:0975820 | poor metabolism of thiopurines 1 | DOID:0061004 | MONDO:equivalentTo | poor metabolism of thiopurines 1 | | MONDO:0012503 | +| MONDO:0975821 | autoinflammation, antibody deficiency, and immune dysregulation syndrome | DOID:0070615 | MONDO:equivalentTo | autoinflammation, antibody deficiency, and immune dysregulation syndrome | | MONDO:0003778|MONDO:0000426 | +| MONDO:0975822 | glycine encephalopathy 1 | DOID:0070616 | MONDO:equivalentTo | glycine encephalopathy 1 | | MONDO:0011612 | +| MONDO:0975823 | rhabdoid tumor predisposition syndrome | DOID:0070617 | MONDO:equivalentTo | rhabdoid tumor predisposition syndrome | | MONDO:0002254|MONDO:0000426 | +| MONDO:0975824 | mitochondrial trifunctional protein deficiency 1 | DOID:0070619 | MONDO:equivalentTo | mitochondrial trifunctional protein deficiency 1 | | MONDO:0012172 | \ No newline at end of file diff --git a/docs/reports/migrate_omim.md b/docs/reports/migrate_omim.md index c6018ed9..d21d7da3 100644 --- a/docs/reports/migrate_omim.md +++ b/docs/reports/migrate_omim.md @@ -2,21 +2,40 @@ [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:0975795 | kariminejad-reversade neurodevelopmental syndrome | OMIM:620937 | MONDO:equivalentTo | kariminejad-reversade neurodevelopmental syndrome | | | -| MONDO:0975796 | spastic paraplegia 93, autosomal recessive | OMIM:620938 | MONDO:equivalentTo | spastic paraplegia 93, autosomal recessive | | MONDO:0019064 | -| MONDO:0975797 | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | OMIM:620939 | MONDO:equivalentTo | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | | | -| MONDO:0975798 | methylmalonic aciduria and homocystinuria, cbll type | OMIM:620940 | MONDO:equivalentTo | methylmalonic aciduria and homocystinuria, cbll type | | MONDO:0016826 | -| MONDO:0975799 | brain malformation renal syndrome | OMIM:620943 | MONDO:equivalentTo | brain malformation renal syndrome | | | -| MONDO:0975800 | spinocerebellar ataxia 51 | OMIM:620947 | MONDO:equivalentTo | spinocerebellar ataxia 51 | | MONDO:0020380 | -| MONDO:0975801 | encephalopathy, acute transient | OMIM:620950 | MONDO:equivalentTo | encephalopathy, acute transient | | | -| MONDO:0975802 | homocystinuria-megaloblastic anemia | OMIMPS:236270 | MONDO:equivalentTo | Homocystinuria-megaloblastic anemia | | | -| MONDO:0975803 | methylmalonic aciduria | OMIMPS:251000 | MONDO:equivalentTo | Methylmalonic aciduria | | | -| MONDO:0975805 | foveal hypoplasia 3 | OMIM:620958 | MONDO:equivalentTo | foveal hypoplasia 3 | | MONDO:0044203 | -| MONDO:0975806 | multiple mitochondrial dysfunctions syndrome 10 | OMIM:620960 | MONDO:equivalentTo | multiple mitochondrial dysfunctions syndrome 10 | | MONDO:0017338 | -| MONDO:0975807 | cholestasis, progressive familial intrahepatic, 13 | OMIM:620962 | MONDO:equivalentTo | cholestasis, progressive familial intrahepatic, 13 | | MONDO:0015762 | -| MONDO:0975808 | congenital myopathy 25 | OMIM:620964 | MONDO:equivalentTo | congenital myopathy 25 | | MONDO:0019952 | -| MONDO:0975809 | microphthalmia/coloboma 13 | OMIM:620968 | MONDO:equivalentTo | microphthalmia/coloboma 13 | | | -| MONDO:0975810 | short stature with nonspecific skeletal abnormalities | OMIMPS:616255 | MONDO:equivalentTo | Short stature with nonspecific skeletal abnormalities | | | \ 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:0975795 | kariminejad-reversade neurodevelopmental syndrome | OMIM:620937 | MONDO:equivalentTo | kariminejad-reversade neurodevelopmental syndrome | | | +| MONDO:0975796 | spastic paraplegia 93, autosomal recessive | OMIM:620938 | MONDO:equivalentTo | spastic paraplegia 93, autosomal recessive | | MONDO:0019064 | +| MONDO:0975797 | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | OMIM:620939 | MONDO:equivalentTo | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | | | +| MONDO:0975798 | methylmalonic aciduria and homocystinuria, cbll type | OMIM:620940 | MONDO:equivalentTo | methylmalonic aciduria and homocystinuria, cbll type | | MONDO:0016826 | +| MONDO:0975799 | brain malformation renal syndrome | OMIM:620943 | MONDO:equivalentTo | brain malformation renal syndrome | | | +| MONDO:0975800 | spinocerebellar ataxia 51 | OMIM:620947 | MONDO:equivalentTo | spinocerebellar ataxia 51 | | MONDO:0020380 | +| MONDO:0975801 | encephalopathy, acute transient | OMIM:620950 | MONDO:equivalentTo | encephalopathy, acute transient | | | +| MONDO:0975802 | homocystinuria-megaloblastic anemia | OMIMPS:236270 | MONDO:equivalentTo | Homocystinuria-megaloblastic anemia | | | +| MONDO:0975803 | methylmalonic aciduria | OMIMPS:251000 | MONDO:equivalentTo | Methylmalonic aciduria | | | +| MONDO:0975805 | foveal hypoplasia 3 | OMIM:620958 | MONDO:equivalentTo | foveal hypoplasia 3 | | MONDO:0044203 | +| MONDO:0975806 | multiple mitochondrial dysfunctions syndrome 10 | OMIM:620960 | MONDO:equivalentTo | multiple mitochondrial dysfunctions syndrome 10 | | MONDO:0017338 | +| MONDO:0975807 | cholestasis, progressive familial intrahepatic, 13 | OMIM:620962 | MONDO:equivalentTo | cholestasis, progressive familial intrahepatic, 13 | | MONDO:0015762 | +| MONDO:0975808 | congenital myopathy 25 | OMIM:620964 | MONDO:equivalentTo | congenital myopathy 25 | | MONDO:0019952 | +| MONDO:0975809 | microphthalmia/coloboma 13 | OMIM:620968 | MONDO:equivalentTo | microphthalmia/coloboma 13 | | MONDO:0000170 | +| MONDO:0975810 | short stature with nonspecific skeletal abnormalities | OMIMPS:616255 | MONDO:equivalentTo | Short stature with nonspecific skeletal abnormalities | | | +| MONDO:0975826 | arthrogryposis multiplex congenita 7, x-linked | OMIM:301127 | MONDO:equivalentTo | arthrogryposis multiplex congenita 7, X-linked | | MONDO:0015168 | +| MONDO:0975827 | orofaciodigital syndrome 21 | OMIM:301132 | MONDO:equivalentTo | orofaciodigital syndrome 21 | | MONDO:0015375 | +| MONDO:0975828 | intellectual developmental disorder, x-linked 114 | OMIM:301134 | MONDO:equivalentTo | intellectual developmental disorder, X-linked 114 | | | +| MONDO:0975829 | anemia, congenital dyserythropoietic, type ivb | OMIM:620969 | MONDO:equivalentTo | anemia, congenital dyserythropoietic, type ivb | | MONDO:0019403 | +| MONDO:0975830 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | OMIM:620971 | MONDO:equivalentTo | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | | | +| MONDO:0975831 | blood group, anton system | OMIM:620975 | MONDO:equivalentTo | blood group, anton system | | | +| MONDO:0975832 | immunodeficiency 127 | OMIM:620977 | MONDO:equivalentTo | immunodeficiency 127 | | MONDO:0021094 | +| MONDO:0975833 | leukodystrophy, hypomyelinating, 28 | OMIM:620978 | MONDO:equivalentTo | leukodystrophy, hypomyelinating, 28 | | MONDO:0019046 | +| MONDO:0975834 | immunodeficiency 128 | OMIM:620983 | MONDO:equivalentTo | immunodeficiency 128 | | | +| MONDO:0975835 | bronchiectasis and nasal polyposis | OMIM:620984 | MONDO:equivalentTo | bronchiectasis and nasal polyposis | | | +| MONDO:0975836 | karayol-borroto-haghshenas neurodevelopmental syndrome | OMIM:620985 | MONDO:equivalentTo | karayol-borroto-haghshenas neurodevelopmental syndrome | | | +| MONDO:0975837 | neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities | OMIM:620987 | MONDO:equivalentTo | neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities | | | +| MONDO:0975838 | intellectual developmental disorder, autosomal dominant 75 | OMIM:620988 | MONDO:equivalentTo | intellectual developmental disorder, autosomal dominant 75 | | MONDO:0100172 | +| MONDO:0975839 | pancreatic agenesis 3 | OMIM:620991 | MONDO:equivalentTo | pancreatic agenesis 3 | | MONDO:0009832 | +| MONDO:0975840 | retinitis pigmentosa 98 | OMIM:620996 | MONDO:equivalentTo | retinitis pigmentosa 98 | | MONDO:0019200 | +| MONDO:0975841 | fibromatosis, gingival, 6 | OMIM:620999 | MONDO:equivalentTo | fibromatosis, gingival, 6 | | MONDO:0016070 | +| MONDO:0975842 | spermatogenic failure 96 | OMIM:621001 | MONDO:equivalentTo | spermatogenic failure 96 | | | +| MONDO:0975843 | premature ovarian failure 25 | OMIM:621002 | MONDO:equivalentTo | premature ovarian failure 25 | | | +| MONDO:0975844 | acth-independent macronodular adrenal hyperplasia | OMIMPS:219080 | MONDO:equivalentTo | ACTH-independent macronodular adrenal hyperplasia | | | \ No newline at end of file diff --git a/docs/reports/unmapped.md b/docs/reports/unmapped.md index d62ddc41..8afa7d5b 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 | 4,108 | 48,011 | 92.1% | | [NCIT](./unmapped_ncit.md) | 191,123 | 169,937 | 5,221 | 5,216 | 15,965 | 3,676 | 12,289 | 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 | 9,214 | 77 | 0.8% | -| [DOID](./unmapped_doid.md) | 14,158 | 2,660 | 2,488 | 2,478 | 11,496 | 11,458 | 38 | 0.3% | -| [OMIM](./unmapped_omim.md) | 29,489 | 19,348 | 1,366 | 1,324 | 8,776 | 8,759 | 17 | 0.2% | +| [ORDO](./unmapped_ordo.md) | 15,561 | 6,270 | 1,424 | 1,256 | 9,291 | 9,214 | 77 | 0.8% | +| [DOID](./unmapped_doid.md) | 14,172 | 2,660 | 2,488 | 2,478 | 11,510 | 11,457 | 53 | 0.5% | +| [OMIM](./unmapped_omim.md) | 29,532 | 19,371 | 1,367 | 1,324 | 8,795 | 8,758 | 37 | 0.4% | `Ontology`: Name of ontology `Tot terms`: Total terms in ontology diff --git a/docs/reports/unmapped_doid.md b/docs/reports/unmapped_doid.md index 1adb6dc2..d8cb4d1a 100644 --- a/docs/reports/unmapped_doid.md +++ b/docs/reports/unmapped_doid.md @@ -4,7 +4,10 @@ ### Unmapped mappable terms _(!excluded, !deprecated)_ | subject_id | subject_label | |:-------------|:----------------------------------------------------------------------------------------------| +| DOID:0050457 | Sertoli cell-only syndrome | | DOID:2934 | aleutian mink disease | +| DOID:0070615 | autoinflammation, antibody deficiency, and immune dysregulation syndrome | +| DOID:0060995 | autosomal dominant isolated macrothrombocytopenia 2 | | DOID:0070601 | autosomal dominant nonsyndromic deafness 37 | | DOID:0070602 | autosomal dominant nonsyndromic deafness 80 | | DOID:0070608 | autosomal dominant nonsyndromic deafness 81 | @@ -25,6 +28,7 @@ | DOID:0111368 | cholesterol-ester transfer protein deficiency | | DOID:0070614 | chromosome 11 partial duplication syndrome | | DOID:2536 | chronic inflammatory demyelinating polyneuritis | +| DOID:0061002 | congenital amegakaryocytic thrombocytopenia 2 | | DOID:0060991 | congenital disorder of deglycosylation | | DOID:0060990 | congenital disorder of deglycosylation 2 | | DOID:4668 | congenital kyphosis | @@ -32,13 +36,24 @@ | DOID:0060984 | digenic dyskeratosis congenita | | DOID:0060994 | encephalopathy due to defective mitochondrial and peroxisomal fission 2 | | DOID:0070613 | familial renal glucosuria | +| DOID:0070616 | glycine encephalopathy 1 | +| DOID:0061001 | glycine encephalopathy 2 | | DOID:0050156 | idiopathic pulmonary fibrosis | | DOID:0070600 | intellectual disability and myopathy syndrome | | DOID:0060333 | mitochondrial complex V (ATP synthase) deficiency nuclear type 4 | +| DOID:0070619 | mitochondrial trifunctional protein deficiency 1 | +| DOID:0060999 | mitochondrial trifunctional protein deficiency 2 | +| DOID:0061003 | pancreatic agenesis 1 | | DOID:0060988 | pancreatic agenesis 2 | | DOID:146 | papilledema | +| DOID:0061004 | poor metabolism of thiopurines 1 | +| DOID:0060996 | poor metabolism of thiopurines 2 | | DOID:9373 | postural kyphosis | | DOID:0060987 | preaxial polydactyly I | | DOID:0060986 | preaxial polydactyly II | | DOID:0060985 | preaxial polydactyly type IV | -| DOID:0060989 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | \ No newline at end of file +| DOID:0070617 | rhabdoid tumor predisposition syndrome | +| DOID:0070618 | rhabdoid tumor predisposition syndrome 1 | +| DOID:0060997 | rhabdoid tumor predisposition syndrome 2 | +| DOID:0060989 | short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 | +| DOID:0060998 | striatal degeneration 2 | \ No newline at end of file diff --git a/docs/reports/unmapped_omim.md b/docs/reports/unmapped_omim.md index 72ddedde..f4f8926e 100644 --- a/docs/reports/unmapped_omim.md +++ b/docs/reports/unmapped_omim.md @@ -2,22 +2,42 @@ [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 | -|:--------------|:---------------------------------------------------------------------------------------------------| -| OMIMPS:236270 | Homocystinuria-megaloblastic anemia | -| OMIMPS:251000 | Methylmalonic aciduria | -| OMIMPS:616255 | Short stature with nonspecific skeletal abnormalities | -| OMIM:620943 | brain malformation renal syndrome | -| OMIM:620962 | cholestasis, progressive familial intrahepatic, 13 | -| OMIM:620964 | congenital myopathy 25 | -| OMIM:620950 | encephalopathy, acute transient | -| OMIM:620958 | foveal hypoplasia 3 | -| OMIM:620952 | homocystinuria-megaloblastic anemia, cbld type | -| OMIM:620937 | kariminejad-reversade neurodevelopmental syndrome | -| OMIM:620940 | methylmalonic aciduria and homocystinuria, cbll type | -| OMIM:620953 | methylmalonic aciduria, cbld type | -| OMIM:620968 | microphthalmia/coloboma 13 | -| OMIM:620960 | multiple mitochondrial dysfunctions syndrome 10 | -| OMIM:620939 | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | -| OMIM:620938 | spastic paraplegia 93, autosomal recessive | -| OMIM:620947 | spinocerebellar ataxia 51 | \ No newline at end of file +| subject_id | subject_label | +|:--------------|:------------------------------------------------------------------------------------------------------| +| OMIMPS:219080 | ACTH-independent macronodular adrenal hyperplasia | +| OMIMPS:236270 | Homocystinuria-megaloblastic anemia | +| OMIMPS:251000 | Methylmalonic aciduria | +| OMIMPS:616255 | Short stature with nonspecific skeletal abnormalities | +| OMIM:620990 | acth-independent macronodular adrenal hyperplasia 3 | +| OMIM:620969 | anemia, congenital dyserythropoietic, type ivb | +| OMIM:301127 | arthrogryposis multiplex congenita 7, X-linked | +| OMIM:620975 | blood group, anton system | +| OMIM:620943 | brain malformation renal syndrome | +| OMIM:620984 | bronchiectasis and nasal polyposis | +| OMIM:620962 | cholestasis, progressive familial intrahepatic, 13 | +| OMIM:620964 | congenital myopathy 25 | +| OMIM:620950 | encephalopathy, acute transient | +| OMIM:620999 | fibromatosis, gingival, 6 | +| OMIM:620958 | foveal hypoplasia 3 | +| OMIM:620952 | homocystinuria-megaloblastic anemia, cbld type | +| OMIM:620977 | immunodeficiency 127 | +| OMIM:620983 | immunodeficiency 128 | +| OMIM:301134 | intellectual developmental disorder, X-linked 114 | +| OMIM:620988 | intellectual developmental disorder, autosomal dominant 75 | +| OMIM:620985 | karayol-borroto-haghshenas neurodevelopmental syndrome | +| OMIM:620937 | kariminejad-reversade neurodevelopmental syndrome | +| OMIM:620978 | leukodystrophy, hypomyelinating, 28 | +| OMIM:620940 | methylmalonic aciduria and homocystinuria, cbll type | +| OMIM:620953 | methylmalonic aciduria, cbld type | +| OMIM:620968 | microphthalmia/coloboma 13 | +| OMIM:620960 | multiple mitochondrial dysfunctions syndrome 10 | +| OMIM:620939 | myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities | +| OMIM:620971 | myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 | +| OMIM:620987 | neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities | +| OMIM:301132 | orofaciodigital syndrome 21 | +| OMIM:620991 | pancreatic agenesis 3 | +| OMIM:621002 | premature ovarian failure 25 | +| OMIM:620996 | retinitis pigmentosa 98 | +| OMIM:620938 | spastic paraplegia 93, autosomal recessive | +| OMIM:621001 | spermatogenic failure 96 | +| OMIM:620947 | spinocerebellar ataxia 51 | \ No newline at end of file diff --git a/python-requirements-apple-silicon.txt b/python-requirements-arm64.txt similarity index 100% rename from python-requirements-apple-silicon.txt rename to python-requirements-arm64.txt diff --git a/src/mappings/doid.sssom.tsv b/src/mappings/doid.sssom.tsv index 90b6db12..639340ab 100644 --- a/src/mappings/doid.sssom.tsv +++ b/src/mappings/doid.sssom.tsv @@ -1553,10 +1553,10 @@ DOID:0050876 Caroli disease oboInOwl:hasDbXref GARD:6002 semapv:UnspecifiedMatch DOID:0050876 Caroli disease oboInOwl:hasDbXref MESH:D016767 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref NCI:C84619 semapv:UnspecifiedMatching DOID:0050876 Caroli disease oboInOwl:hasDbXref UMLS:C0162510 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis 1 oboInOwl:hasDbXref GARD:4203 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis 1 oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis 1 oboInOwl:hasDbXref ORDO:2805 semapv:UnspecifiedMatching -DOID:0050877 pancreatic agenesis 1 skos:exactMatch OMIM:260370 semapv:UnspecifiedMatching +DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref GARD:4203 semapv:UnspecifiedMatching +DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref OMIMPS:260370 semapv:UnspecifiedMatching +DOID:0050877 pancreatic agenesis oboInOwl:hasDbXref ORDO:2805 semapv:UnspecifiedMatching +DOID:0050877 pancreatic agenesis skos:exactMatch OMIMPS:260370 semapv:UnspecifiedMatching DOID:0050879 fragile X-associated tremor/ataxia syndrome oboInOwl:hasDbXref OMIM:300623 semapv:UnspecifiedMatching DOID:0050879 fragile X-associated tremor/ataxia syndrome skos:exactMatch OMIM:300623 semapv:UnspecifiedMatching DOID:0050880 Koolen de Vries syndrome oboInOwl:hasDbXref GARD:10727 semapv:UnspecifiedMatching @@ -1858,6 +1858,7 @@ DOID:0060067 Pearson syndrome oboInOwl:hasDbXref OMIM:557000 semapv:UnspecifiedM DOID:0060067 Pearson syndrome skos:exactMatch OMIM:557000 semapv:UnspecifiedMatching DOID:0060068 nonbacterial thrombotic endocarditis oboInOwl:hasDbXref MESH:D059905 semapv:UnspecifiedMatching DOID:0060083 immune system cancer oboInOwl:hasDbXref ICDO:9392/3 semapv:UnspecifiedMatching +DOID:0060085 organ system benign neoplasm oboInOwl:hasDbXref NCI:C3677 semapv:UnspecifiedMatching DOID:0060098 osteoblastoma oboInOwl:hasDbXref ICDO:9200/0 semapv:UnspecifiedMatching DOID:0060098 osteoblastoma oboInOwl:hasDbXref MESH:D018215 semapv:UnspecifiedMatching DOID:0060103 central nervous system embryonal tumor oboInOwl:hasDbXref ICDO:9473/3 semapv:UnspecifiedMatching @@ -4842,6 +4843,24 @@ DOID:0060993 bent bone dysplasia syndrome 2 oboInOwl:hasDbXref OMIM:620076 semap DOID:0060993 bent bone dysplasia syndrome 2 skos:exactMatch OMIM:620076 semapv:UnspecifiedMatching DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 oboInOwl:hasDbXref OMIM:617086 semapv:UnspecifiedMatching DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch OMIM:617086 semapv:UnspecifiedMatching +DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 oboInOwl:hasDbXref OMIM:619840 semapv:UnspecifiedMatching +DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 skos:exactMatch OMIM:619840 semapv:UnspecifiedMatching +DOID:0060996 poor metabolism of thiopurines 2 oboInOwl:hasDbXref OMIM:616903 semapv:UnspecifiedMatching +DOID:0060996 poor metabolism of thiopurines 2 skos:exactMatch OMIM:616903 semapv:UnspecifiedMatching +DOID:0060997 rhabdoid tumor predisposition syndrome 2 oboInOwl:hasDbXref OMIM:613325 semapv:UnspecifiedMatching +DOID:0060997 rhabdoid tumor predisposition syndrome 2 skos:exactMatch OMIM:613325 semapv:UnspecifiedMatching +DOID:0060998 striatal degeneration 2 oboInOwl:hasDbXref OMIM:616922 semapv:UnspecifiedMatching +DOID:0060998 striatal degeneration 2 skos:exactMatch OMIM:616922 semapv:UnspecifiedMatching +DOID:0060999 mitochondrial trifunctional protein deficiency 2 oboInOwl:hasDbXref OMIM:620300 semapv:UnspecifiedMatching +DOID:0060999 mitochondrial trifunctional protein deficiency 2 skos:exactMatch OMIM:620300 semapv:UnspecifiedMatching +DOID:0061001 glycine encephalopathy 2 oboInOwl:hasDbXref OMIM:620398 semapv:UnspecifiedMatching +DOID:0061001 glycine encephalopathy 2 skos:exactMatch OMIM:620398 semapv:UnspecifiedMatching +DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 oboInOwl:hasDbXref OMIM:620481 semapv:UnspecifiedMatching +DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 skos:exactMatch OMIM:620481 semapv:UnspecifiedMatching +DOID:0061003 pancreatic agenesis 1 oboInOwl:hasDbXref OMIM:260370 semapv:UnspecifiedMatching +DOID:0061003 pancreatic agenesis 1 skos:exactMatch OMIM:260370 semapv:UnspecifiedMatching +DOID:0061004 poor metabolism of thiopurines 1 oboInOwl:hasDbXref OMIM:610460 semapv:UnspecifiedMatching +DOID:0061004 poor metabolism of thiopurines 1 skos:exactMatch OMIM:610460 semapv:UnspecifiedMatching DOID:0070000 3-methylglutaconic aciduria type 8 oboInOwl:hasDbXref OMIM:617248 semapv:UnspecifiedMatching DOID:0070000 3-methylglutaconic aciduria type 8 skos:exactMatch OMIM:617248 semapv:UnspecifiedMatching DOID:0070002 3-methylglutaconic aciduria type 9 oboInOwl:hasDbXref OMIM:617698 semapv:UnspecifiedMatching @@ -6605,6 +6624,28 @@ DOID:0070614 chromosome 11 partial duplication syndrome oboInOwl:hasDbXref UMLS: DOID:0070614 chromosome 11 partial duplication syndrome skos:exactMatch ORDO:262653 semapv:UnspecifiedMatching DOID:0070614 chromosome 11 partial duplication syndrome skos:exactMatch SNOMEDCT_US_2020_03_01:726350006 semapv:UnspecifiedMatching DOID:0070614 chromosome 11 partial duplication syndrome skos:exactMatch UMLS:C4518499 semapv:UnspecifiedMatching +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome oboInOwl:hasDbXref GARD:17486 semapv:UnspecifiedMatching +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome oboInOwl:hasDbXref OMIM:614878 semapv:UnspecifiedMatching +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome oboInOwl:hasDbXref ORDO:324530 semapv:UnspecifiedMatching +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome oboInOwl:hasDbXref UMLS:C3553961 semapv:UnspecifiedMatching +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome skos:exactMatch GARD:17486 semapv:UnspecifiedMatching +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome skos:exactMatch OMIM:614878 semapv:UnspecifiedMatching +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome skos:exactMatch ORDO:324530 semapv:UnspecifiedMatching +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome skos:exactMatch UMLS:C3553961 semapv:UnspecifiedMatching +DOID:0070616 glycine encephalopathy 1 oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching +DOID:0070616 glycine encephalopathy 1 skos:exactMatch OMIM:605899 semapv:UnspecifiedMatching +DOID:0070617 rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref NCI:C93268 semapv:UnspecifiedMatching +DOID:0070617 rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref OMIMPS:609322 semapv:UnspecifiedMatching +DOID:0070617 rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref ORDO:231108 semapv:UnspecifiedMatching +DOID:0070617 rhabdoid tumor predisposition syndrome oboInOwl:hasDbXref UMLS:C2985524 semapv:UnspecifiedMatching +DOID:0070617 rhabdoid tumor predisposition syndrome skos:exactMatch NCI:C93268 semapv:UnspecifiedMatching +DOID:0070617 rhabdoid tumor predisposition syndrome skos:exactMatch OMIMPS:609322 semapv:UnspecifiedMatching +DOID:0070617 rhabdoid tumor predisposition syndrome skos:exactMatch ORDO:231108 semapv:UnspecifiedMatching +DOID:0070617 rhabdoid tumor predisposition syndrome skos:exactMatch UMLS:C2985524 semapv:UnspecifiedMatching +DOID:0070618 rhabdoid tumor predisposition syndrome 1 oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching +DOID:0070618 rhabdoid tumor predisposition syndrome 1 skos:exactMatch OMIM:609322 semapv:UnspecifiedMatching +DOID:0070619 mitochondrial trifunctional protein deficiency 1 oboInOwl:hasDbXref OMIM:609015 semapv:UnspecifiedMatching +DOID:0070619 mitochondrial trifunctional protein deficiency 1 skos:exactMatch OMIM:609015 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref ICD10CM:M89.9 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref MESH:D001847 semapv:UnspecifiedMatching DOID:0080001 bone disease oboInOwl:hasDbXref UMLS:C0005940 semapv:UnspecifiedMatching @@ -6632,8 +6673,10 @@ DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type oboInOwl:hasDbXref DOID:0080028 spondyloepimetaphyseal dysplasia, Strudwick type skos:exactMatch OMIM:184250 semapv:UnspecifiedMatching DOID:0080029 autosomal recessive spinocerebellar ataxia 16 oboInOwl:hasDbXref OMIM:615768 semapv:UnspecifiedMatching DOID:0080029 autosomal recessive spinocerebellar ataxia 16 skos:exactMatch OMIM:615768 semapv:UnspecifiedMatching +DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref GARD:10618 semapv:UnspecifiedMatching DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref MESH:C566574 semapv:UnspecifiedMatching DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref OMIM:602111 semapv:UnspecifiedMatching +DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type oboInOwl:hasDbXref ORDO:93356 semapv:UnspecifiedMatching DOID:0080030 spondyloepimetaphyseal dysplasia, Missouri type skos:exactMatch OMIM:602111 semapv:UnspecifiedMatching DOID:0080031 fibrous dysplasia oboInOwl:hasDbXref GARD:6444 semapv:UnspecifiedMatching DOID:0080031 fibrous dysplasia oboInOwl:hasDbXref ICDO:8818/0 semapv:UnspecifiedMatching @@ -6645,6 +6688,7 @@ DOID:0080032 craniodiaphyseal dysplasia skos:exactMatch OMIM:218300 semapv:Unspe DOID:0080033 craniometaphyseal dysplasia oboInOwl:hasDbXref OMIMPS:123000 semapv:UnspecifiedMatching DOID:0080033 craniometaphyseal dysplasia oboInOwl:hasDbXref ORDO:1522 semapv:UnspecifiedMatching DOID:0080033 craniometaphyseal dysplasia skos:exactMatch OMIMPS:123000 semapv:UnspecifiedMatching +DOID:0080036 SOST-related sclerosing bone dysplasia oboInOwl:hasDbXref GARD:4771 semapv:UnspecifiedMatching DOID:0080036 SOST-related sclerosing bone dysplasia oboInOwl:hasDbXref OMIM:239100 semapv:UnspecifiedMatching DOID:0080036 SOST-related sclerosing bone dysplasia oboInOwl:hasDbXref ORDO:3152 semapv:UnspecifiedMatching DOID:0080036 SOST-related sclerosing bone dysplasia skos:exactMatch OMIM:239100 semapv:UnspecifiedMatching @@ -7017,9 +7061,9 @@ DOID:0080170 normophosphatemic familial tumoral calcinosis skos:exactMatch OMIM: DOID:0080171 esophageal atresia/tracheoesophageal fistula oboInOwl:hasDbXref GARD:7792 semapv:UnspecifiedMatching DOID:0080171 esophageal atresia/tracheoesophageal fistula oboInOwl:hasDbXref OMIM:189960 semapv:UnspecifiedMatching DOID:0080171 esophageal atresia/tracheoesophageal fistula skos:exactMatch OMIM:189960 semapv:UnspecifiedMatching -DOID:0080172 thiopurine S-methyltransferase deficiency oboInOwl:hasDbXref MESH:C536512 semapv:UnspecifiedMatching -DOID:0080172 thiopurine S-methyltransferase deficiency oboInOwl:hasDbXref OMIM:610460 semapv:UnspecifiedMatching -DOID:0080172 thiopurine S-methyltransferase deficiency skos:exactMatch OMIM:610460 semapv:UnspecifiedMatching +DOID:0080172 poor metabolism of thiopurines oboInOwl:hasDbXref MESH:C536512 semapv:UnspecifiedMatching +DOID:0080172 poor metabolism of thiopurines oboInOwl:hasDbXref OMIMPS:610460 semapv:UnspecifiedMatching +DOID:0080172 poor metabolism of thiopurines skos:exactMatch OMIMPS:610460 semapv:UnspecifiedMatching DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex oboInOwl:hasDbXref OMIM:258040 semapv:UnspecifiedMatching DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex oboInOwl:hasDbXref ORDO:322 semapv:UnspecifiedMatching DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex skos:exactMatch OMIM:258040 semapv:UnspecifiedMatching @@ -10080,10 +10124,10 @@ DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbX DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref OMIM:261740 semapv:UnspecifiedMatching DOID:0090101 lethal congenital glycogen storage disease of heart oboInOwl:hasDbXref ORDO:439854 semapv:UnspecifiedMatching DOID:0090101 lethal congenital glycogen storage disease of heart skos:exactMatch OMIM:261740 semapv:UnspecifiedMatching -DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching -DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref OMIM:613112 semapv:UnspecifiedMatching -DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related oboInOwl:hasDbXref ORDO:140957 semapv:UnspecifiedMatching -DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related skos:exactMatch OMIM:613112 semapv:UnspecifiedMatching +DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 oboInOwl:hasDbXref ICD10CM:D69.4 semapv:UnspecifiedMatching +DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 oboInOwl:hasDbXref OMIM:613112 semapv:UnspecifiedMatching +DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 oboInOwl:hasDbXref ORDO:140957 semapv:UnspecifiedMatching +DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 skos:exactMatch OMIM:613112 semapv:UnspecifiedMatching DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref ICD10CM:G10 semapv:UnspecifiedMatching DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref OMIM:603218 semapv:UnspecifiedMatching DOID:0090103 Huntington's disease-like 1 oboInOwl:hasDbXref ORDO:157941 semapv:UnspecifiedMatching @@ -14377,10 +14421,10 @@ DOID:0111276 sensory ataxic neuropathy, dysarthria, and ophthalmoparesis skos:ex DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref GARD:3684 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref MESH:C566945 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref NCI:C98991 semapv:UnspecifiedMatching -DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIM:609015 semapv:UnspecifiedMatching +DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref OMIMPS:609015 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref ORDO:746 semapv:UnspecifiedMatching DOID:0111277 mitochondrial trifunctional protein deficiency oboInOwl:hasDbXref UMLS:C1969443 semapv:UnspecifiedMatching -DOID:0111277 mitochondrial trifunctional protein deficiency skos:exactMatch OMIM:609015 semapv:UnspecifiedMatching +DOID:0111277 mitochondrial trifunctional protein deficiency skos:exactMatch OMIMPS:609015 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref GARD:7588 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref ICDO:9749/3 semapv:UnspecifiedMatching DOID:0111278 histiocytosis-lymphadenopathy plus syndrome oboInOwl:hasDbXref NCI:C36075 semapv:UnspecifiedMatching @@ -24864,8 +24908,10 @@ DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref GARD:5701 semapv:Unspecif DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ICD10CM:Q13.81 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref MESH:C535679 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref NCI:C131001 semapv:UnspecifiedMatching +DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref OMIMPS:180500 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref ORDO:782 semapv:UnspecifiedMatching DOID:14686 Axenfeld-Rieger syndrome oboInOwl:hasDbXref UMLS:C0265341 semapv:UnspecifiedMatching +DOID:14686 Axenfeld-Rieger syndrome skos:exactMatch OMIMPS:180500 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref GARD:6275 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref ICD10CM:Q77.5 semapv:UnspecifiedMatching DOID:14687 diastrophic dysplasia oboInOwl:hasDbXref MESH:C536170 semapv:UnspecifiedMatching @@ -26363,10 +26409,8 @@ DOID:2127 brain germinoma oboInOwl:hasDbXref NCI:C6284 semapv:UnspecifiedMatchin DOID:2127 brain germinoma oboInOwl:hasDbXref UMLS:C1332606 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ICDO:9508/3 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref NCI:C6906 semapv:UnspecifiedMatching -DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref OMIM:609322 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref ORDO:99966 semapv:UnspecifiedMatching DOID:2129 atypical teratoid rhabdoid tumor oboInOwl:hasDbXref UMLS:C1266184 semapv:UnspecifiedMatching -DOID:2129 atypical teratoid rhabdoid tumor skos:exactMatch OMIM:609322 semapv:UnspecifiedMatching DOID:2132 brain sarcoma oboInOwl:hasDbXref NCI:C5154 semapv:UnspecifiedMatching DOID:2132 brain sarcoma oboInOwl:hasDbXref UMLS:C1332607 semapv:UnspecifiedMatching DOID:2133 central nervous system sarcoma oboInOwl:hasDbXref NCI:C5153 semapv:UnspecifiedMatching @@ -37660,9 +37704,10 @@ DOID:9268 glycine encephalopathy oboInOwl:hasDbXref GARD:7219 semapv:Unspecified DOID:9268 glycine encephalopathy oboInOwl:hasDbXref ICD10CM:E72.51 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref MESH:D020158 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref NCI:C84937 semapv:UnspecifiedMatching -DOID:9268 glycine encephalopathy oboInOwl:hasDbXref OMIM:605899 semapv:UnspecifiedMatching +DOID:9268 glycine encephalopathy oboInOwl:hasDbXref OMIMPS:605899 semapv:UnspecifiedMatching +DOID:9268 glycine encephalopathy oboInOwl:hasDbXref ORDO:407 semapv:UnspecifiedMatching DOID:9268 glycine encephalopathy oboInOwl:hasDbXref UMLS:C0751748 semapv:UnspecifiedMatching -DOID:9268 glycine encephalopathy skos:exactMatch OMIM:605899 semapv:UnspecifiedMatching +DOID:9268 glycine encephalopathy skos:exactMatch OMIMPS:605899 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref GARD:3228 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref ICD10CM:E71.0 semapv:UnspecifiedMatching DOID:9269 maple syrup urine disease oboInOwl:hasDbXref MESH:D008375 semapv:UnspecifiedMatching diff --git a/src/mappings/gard.sssom.tsv b/src/mappings/gard.sssom.tsv index b9dc325c..01677ddd 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/dbe19073-b69b-4537-8a59-d4696fe42fb8 +# mapping_set_id: https://w3id.org/sssom/mappings/638c7360-1045-42e9-ad3f-2b89da705226 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 97a50834..fec1b452 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/5f0af989-719f-4598-a831-bba89bceb133 +# mapping_set_id: https://w3id.org/sssom/mappings/2c109aa8-08fe-4f70-97c2-e0e898d430d4 diff --git a/src/mappings/icd10who.sssom.tsv b/src/mappings/icd10who.sssom.tsv index 92ed8d81..ab1342bd 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/407735a7-0a26-4029-9f0d-4b16e0721b3f +# mapping_set_id: https://w3id.org/sssom/mappings/56361ca8-483d-42a3-9992-233a0ac947f2 diff --git a/src/mappings/icd11foundation.sssom.tsv b/src/mappings/icd11foundation.sssom.tsv index f13a8c10..524ad663 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/e36646ed-63a0-4bd7-8cf3-79d50591b979 +# mapping_set_id: https://w3id.org/sssom/mappings/bb416a7b-9ff4-4ca8-aad4-3e284ffaf6cb diff --git a/src/mappings/mondo-nando.sssom.tsv b/src/mappings/mondo-nando.sssom.tsv index d9e8fb07..a9d32e9c 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/64c84b64-26cc-4b36-b359-56587bc44478 +# mapping_set_id: https://w3id.org/sssom/mappings/7ee7aad3-4c30-4d6f-b5b6-bf7df88adc74 # 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 5e3b89c5..a1290090 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/aee502af-5c5c-4076-a72e-b161f397d08c +# mapping_set_id: https://w3id.org/sssom/mappings/67925cc6-35a2-4a81-ba84-68743f1a17b3 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 48716107..a834975d 100644 --- a/src/mappings/omim.sssom.tsv +++ b/src/mappings/omim.sssom.tsv @@ -3,11 +3,11 @@ # curie_map: # MONDO: http://purl.obolibrary.org/obo/MONDO_ # OMIM: https://omim.org/entry/ +# OMIMPS: https://omim.org/MIM:PS # Orphanet: http://www.orpha.net/ORDO/Orphanet_ # UMLS: http://linkedlifedata.com/resource/umls/id/ # hgnc.symbol: https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/ # ncbigene: https://www.ncbi.nlm.nih.gov/gene/ -# omim.ps: https://omim.org/MIM:PS # owl: http://www.w3.org/2002/07/owl# # rdf: http://www.w3.org/1999/02/22-rdf-syntax-ns# # rdfs: http://www.w3.org/2000/01/rdf-schema# @@ -20,79 +20,79 @@ # command `make ../mappings/omim.sssom.tsv` from within `src/ontology`. ' # mapping_set_id: http://purl.obolibrary.org/obo/mondo/sources/mappings/omim.sssom.tsv subject_id subject_label predicate_id object_id object_label mapping_justification -MONDO:0000005 skos:exactMatch omim.ps:203655 Alopecia, isolated semapv:UnspecifiedMatching -MONDO:0000009 skos:exactMatch omim.ps:231200 Bleeding disorder, platelet-type semapv:UnspecifiedMatching -MONDO:0000023 skos:exactMatch omim.ps:615438 Infantile liver failure syndrome semapv:UnspecifiedMatching -MONDO:0000030 skos:exactMatch omim.ps:600513 Epilepsy, nocturnal frontal lobe semapv:UnspecifiedMatching -MONDO:0000032 skos:exactMatch omim.ps:121210 Seizures, familial febrile semapv:UnspecifiedMatching -MONDO:0000044 skos:exactMatch omim.ps:193100 Hypophosphatemic rickets semapv:UnspecifiedMatching -MONDO:0000045 skos:exactMatch omim.ps:275200 Hypothyroidism, congenital, nongoitrous semapv:UnspecifiedMatching -MONDO:0000049 skos:exactMatch omim.ps:610799 semapv:UnspecifiedMatching -MONDO:0000050 skos:exactMatch omim.ps:262400 Isolated growth hormone deficiency semapv:UnspecifiedMatching -MONDO:0000062 skos:exactMatch omim.ps:251600 Microphthalmia, isolated semapv:UnspecifiedMatching -MONDO:0000065 skos:exactMatch omim.ps:603933 Microvascular complications of diabetes semapv:UnspecifiedMatching +MONDO:0000005 skos:exactMatch OMIMPS:203655 Alopecia, isolated semapv:UnspecifiedMatching +MONDO:0000009 skos:exactMatch OMIMPS:231200 Bleeding disorder, platelet-type semapv:UnspecifiedMatching +MONDO:0000023 skos:exactMatch OMIMPS:615438 Infantile liver failure syndrome semapv:UnspecifiedMatching +MONDO:0000030 skos:exactMatch OMIMPS:600513 Epilepsy, nocturnal frontal lobe semapv:UnspecifiedMatching +MONDO:0000032 skos:exactMatch OMIMPS:121210 Seizures, familial febrile semapv:UnspecifiedMatching +MONDO:0000044 skos:exactMatch OMIMPS:193100 Hypophosphatemic rickets semapv:UnspecifiedMatching +MONDO:0000045 skos:exactMatch OMIMPS:275200 Hypothyroidism, congenital, nongoitrous semapv:UnspecifiedMatching +MONDO:0000049 skos:exactMatch OMIMPS:610799 semapv:UnspecifiedMatching +MONDO:0000050 skos:exactMatch OMIMPS:262400 Isolated growth hormone deficiency semapv:UnspecifiedMatching +MONDO:0000062 skos:exactMatch OMIMPS:251600 Microphthalmia, isolated semapv:UnspecifiedMatching +MONDO:0000065 skos:exactMatch OMIMPS:603933 Microvascular complications of diabetes semapv:UnspecifiedMatching MONDO:0000070 skos:exactMatch OMIM:607948 mycobacterium tuberculosis, susceptibility to semapv:UnspecifiedMatching -MONDO:0000079 skos:exactMatch omim.ps:612286 Nephrolithiasis/osteoporosis, hypophosphatemic semapv:UnspecifiedMatching -MONDO:0000090 skos:exactMatch omim.ps:157640 Progressive external ophthalmoplegia with mtDNA deletions semapv:UnspecifiedMatching -MONDO:0000104 skos:exactMatch omim.ps:206100 Anemia, hypochromic microcytic, with iron overload semapv:UnspecifiedMatching -MONDO:0000107 skos:exactMatch omim.ps:602483 Auriculocondylar syndrome semapv:UnspecifiedMatching -MONDO:0000118 skos:exactMatch omim.ps:179850 Reticulate pigment disorders semapv:UnspecifiedMatching -MONDO:0000127 skos:exactMatch omim.ps:231050 Geleophysic dysplasia semapv:UnspecifiedMatching -MONDO:0000128 skos:exactMatch omim.ps:256850 Giant axonal neuropathy semapv:UnspecifiedMatching -MONDO:0000133 skos:exactMatch omim.ps:242860 Immunodeficiency-centromeric instability-facial anomalies semapv:UnspecifiedMatching -MONDO:0000137 skos:exactMatch omim.ps:604004 Leukoencephalopathy, megalencephalic semapv:UnspecifiedMatching -MONDO:0000141 skos:exactMatch omim.ps:257300 Mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching -MONDO:0000148 skos:exactMatch omim.ps:614742 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related semapv:UnspecifiedMatching -MONDO:0000152 skos:exactMatch omim.ps:249270 Thiamine-responsive dysfunction syndrome semapv:UnspecifiedMatching -MONDO:0000158 skos:exactMatch omim.ps:142700 Developmental dysplasia of the hip semapv:UnspecifiedMatching -MONDO:0000159 skos:exactMatch omim.ps:614675 Bone marrow failure syndrome semapv:UnspecifiedMatching -MONDO:0000160 skos:exactMatch omim.ps:601068 Epilepsy, familial adult myoclonic semapv:UnspecifiedMatching -MONDO:0000166 skos:exactMatch omim.ps:610551 Encephalopathy/encephalitis, acute, infection-induced semapv:UnspecifiedMatching -MONDO:0000170 skos:exactMatch omim.ps:300345 Microphthalmia, isolated, with coloboma semapv:UnspecifiedMatching -MONDO:0000171 skos:exactMatch omim.ps:236670 Muscular dystrophy-dystroglycanopathy, type A semapv:UnspecifiedMatching -MONDO:0000172 skos:exactMatch omim.ps:613155 Muscular dystrophy-dystroglycanopathy, type B semapv:UnspecifiedMatching -MONDO:0000173 skos:exactMatch omim.ps:609308 Muscular dystrophy-dystroglycanopathy, type C semapv:UnspecifiedMatching -MONDO:0000179 skos:exactMatch omim.ps:256520 Neu-Laxova syndrome semapv:UnspecifiedMatching -MONDO:0000181 skos:exactMatch omim.ps:251270 Microcephaly and chorioretinopathy semapv:UnspecifiedMatching -MONDO:0000182 skos:exactMatch omim.ps:610542 Myasthenic syndrome, congenital, with tubular aggregates semapv:UnspecifiedMatching -MONDO:0000188 skos:exactMatch omim.ps:606777 Glut1 deficiency syndrome semapv:UnspecifiedMatching -MONDO:0000192 skos:exactMatch omim.ps:615895 Polyglucosan body myopathy semapv:UnspecifiedMatching -MONDO:0000193 skos:exactMatch omim.ps:604931 Cortisone reductase deficiency semapv:UnspecifiedMatching -MONDO:0000200 skos:exactMatch omim.ps:135500 Zimmermann-Laband syndrome semapv:UnspecifiedMatching -MONDO:0000204 skos:exactMatch omim.ps:156610 Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching +MONDO:0000079 skos:exactMatch OMIMPS:612286 Nephrolithiasis/osteoporosis, hypophosphatemic semapv:UnspecifiedMatching +MONDO:0000090 skos:exactMatch OMIMPS:157640 Progressive external ophthalmoplegia with mtDNA deletions semapv:UnspecifiedMatching +MONDO:0000104 skos:exactMatch OMIMPS:206100 Anemia, hypochromic microcytic, with iron overload semapv:UnspecifiedMatching +MONDO:0000107 skos:exactMatch OMIMPS:602483 Auriculocondylar syndrome semapv:UnspecifiedMatching +MONDO:0000118 skos:exactMatch OMIMPS:179850 Reticulate pigment disorders semapv:UnspecifiedMatching +MONDO:0000127 skos:exactMatch OMIMPS:231050 Geleophysic dysplasia semapv:UnspecifiedMatching +MONDO:0000128 skos:exactMatch OMIMPS:256850 Giant axonal neuropathy semapv:UnspecifiedMatching +MONDO:0000133 skos:exactMatch OMIMPS:242860 Immunodeficiency-centromeric instability-facial anomalies semapv:UnspecifiedMatching +MONDO:0000137 skos:exactMatch OMIMPS:604004 Leukoencephalopathy, megalencephalic semapv:UnspecifiedMatching +MONDO:0000141 skos:exactMatch OMIMPS:257300 Mosaic variegated aneuploidy syndrome semapv:UnspecifiedMatching +MONDO:0000148 skos:exactMatch OMIMPS:614742 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related semapv:UnspecifiedMatching +MONDO:0000152 skos:exactMatch OMIMPS:249270 Thiamine-responsive dysfunction syndrome semapv:UnspecifiedMatching +MONDO:0000158 skos:exactMatch OMIMPS:142700 Developmental dysplasia of the hip semapv:UnspecifiedMatching +MONDO:0000159 skos:exactMatch OMIMPS:614675 Bone marrow failure syndrome semapv:UnspecifiedMatching +MONDO:0000160 skos:exactMatch OMIMPS:601068 Epilepsy, familial adult myoclonic semapv:UnspecifiedMatching +MONDO:0000166 skos:exactMatch OMIMPS:610551 Encephalopathy/encephalitis, acute, infection-induced semapv:UnspecifiedMatching +MONDO:0000170 skos:exactMatch OMIMPS:300345 Microphthalmia, isolated, with coloboma semapv:UnspecifiedMatching +MONDO:0000171 skos:exactMatch OMIMPS:236670 Muscular dystrophy-dystroglycanopathy, type A semapv:UnspecifiedMatching +MONDO:0000172 skos:exactMatch OMIMPS:613155 Muscular dystrophy-dystroglycanopathy, type B semapv:UnspecifiedMatching +MONDO:0000173 skos:exactMatch OMIMPS:609308 Muscular dystrophy-dystroglycanopathy, type C semapv:UnspecifiedMatching +MONDO:0000179 skos:exactMatch OMIMPS:256520 Neu-Laxova syndrome semapv:UnspecifiedMatching +MONDO:0000181 skos:exactMatch OMIMPS:251270 Microcephaly and chorioretinopathy semapv:UnspecifiedMatching +MONDO:0000182 skos:exactMatch OMIMPS:610542 Myasthenic syndrome, congenital, with tubular aggregates semapv:UnspecifiedMatching +MONDO:0000188 skos:exactMatch OMIMPS:606777 Glut1 deficiency syndrome semapv:UnspecifiedMatching +MONDO:0000192 skos:exactMatch OMIMPS:615895 Polyglucosan body myopathy semapv:UnspecifiedMatching +MONDO:0000193 skos:exactMatch OMIMPS:604931 Cortisone reductase deficiency semapv:UnspecifiedMatching +MONDO:0000200 skos:exactMatch OMIMPS:135500 Zimmermann-Laband syndrome semapv:UnspecifiedMatching +MONDO:0000204 skos:exactMatch OMIMPS:156610 Skin creases, congenital symmetric circumferential semapv:UnspecifiedMatching MONDO:0000208 skos:exactMatch OMIM:616033 microcephaly, short stature, and impaired glucose metabolism 1 semapv:UnspecifiedMatching -MONDO:0000209 skos:exactMatch omim.ps:616866 Spinal muscular atrophy with congenital bone fractures semapv:UnspecifiedMatching -MONDO:0000210 skos:exactMatch omim.ps:610460 Thiopurines, poor metabolism of semapv:UnspecifiedMatching -MONDO:0000211 skos:exactMatch omim.ps:609161 Striatal degeneration, autosomal dominant semapv:UnspecifiedMatching -MONDO:0000212 skos:exactMatch omim.ps:143880 Hypercalcemia, infantile semapv:UnspecifiedMatching -MONDO:0000213 skos:exactMatch omim.ps:615952 Autoimmune disease, multisystem, infantile-onset semapv:UnspecifiedMatching -MONDO:0000214 skos:exactMatch omim.ps:613280 Hypermanganesemia with dystonia semapv:UnspecifiedMatching -MONDO:0000218 skos:exactMatch omim.ps:616814 semapv:UnspecifiedMatching -MONDO:0000334 skos:exactMatch omim.ps:138800 Goiter, multinodular semapv:UnspecifiedMatching -MONDO:0000355 skos:exactMatch omim.ps:254090 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching -MONDO:0000358 skos:exactMatch omim.ps:119530 Orofacial cleft semapv:UnspecifiedMatching -MONDO:0000359 skos:exactMatch omim.ps:277300 Spondylocostal dysostosis semapv:UnspecifiedMatching -MONDO:0000389 skos:exactMatch omim.ps:108720 Atelosteogenesis semapv:UnspecifiedMatching -MONDO:0000390 skos:exactMatch omim.ps:153840 Macular dystrophy, vitelliform semapv:UnspecifiedMatching -MONDO:0000447 skos:exactMatch omim.ps:174050 Polycystic liver disease semapv:UnspecifiedMatching -MONDO:0000448 skos:exactMatch omim.ps:168000 Pheochromocytoma/paraganglioma syndrome semapv:UnspecifiedMatching -MONDO:0000453 skos:exactMatch omim.ps:609620 Short QT syndrome semapv:UnspecifiedMatching -MONDO:0000456 skos:exactMatch omim.ps:300352 Cerebral creatine deficiency syndrome semapv:UnspecifiedMatching -MONDO:0000463 skos:exactMatch omim.ps:236730 Urofacial syndrome semapv:UnspecifiedMatching -MONDO:0000507 skos:exactMatch omim.ps:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia semapv:UnspecifiedMatching -MONDO:0000608 skos:exactMatch omim.ps:162000 Tubulointerstitial kidney disease semapv:UnspecifiedMatching -MONDO:0000700 skos:exactMatch omim.ps:141500 Migraine, familial hemiplegic semapv:UnspecifiedMatching -MONDO:0000723 skos:exactMatch omim.ps:184450 Stuttering, familial persistent semapv:UnspecifiedMatching -MONDO:0000724 skos:exactMatch omim.ps:606711 Specific language impairment semapv:UnspecifiedMatching -MONDO:0000732 skos:exactMatch omim.ps:609060 Combined oxidative phosphorylation deficiency semapv:UnspecifiedMatching -MONDO:0000733 skos:exactMatch omim.ps:121400 Cornea plana semapv:UnspecifiedMatching -MONDO:0000736 skos:exactMatch omim.ps:127500 Dyschromatosis universalis hereditaria semapv:UnspecifiedMatching -MONDO:0000816 skos:exactMatch omim.ps:605552 Abdominal obesity-metabolic syndrome semapv:UnspecifiedMatching -MONDO:0000819 skos:exactMatch omim.ps:206500 Anencephaly semapv:UnspecifiedMatching -MONDO:0000824 skos:exactMatch omim.ps:214700 Diarrhea, congenital semapv:UnspecifiedMatching -MONDO:0000863 skos:exactMatch omim.ps:600462 Myopathy, lactic acidosis, and sideroblastic anemia semapv:UnspecifiedMatching +MONDO:0000209 skos:exactMatch OMIMPS:616866 Spinal muscular atrophy with congenital bone fractures semapv:UnspecifiedMatching +MONDO:0000210 skos:exactMatch OMIMPS:610460 Thiopurines, poor metabolism of semapv:UnspecifiedMatching +MONDO:0000211 skos:exactMatch OMIMPS:609161 Striatal degeneration, autosomal dominant semapv:UnspecifiedMatching +MONDO:0000212 skos:exactMatch OMIMPS:143880 Hypercalcemia, infantile semapv:UnspecifiedMatching +MONDO:0000213 skos:exactMatch OMIMPS:615952 Autoimmune disease, multisystem, infantile-onset semapv:UnspecifiedMatching +MONDO:0000214 skos:exactMatch OMIMPS:613280 Hypermanganesemia with dystonia semapv:UnspecifiedMatching +MONDO:0000218 skos:exactMatch OMIMPS:616814 semapv:UnspecifiedMatching +MONDO:0000334 skos:exactMatch OMIMPS:138800 Goiter, multinodular semapv:UnspecifiedMatching +MONDO:0000355 skos:exactMatch OMIMPS:254090 Ullrich congenital muscular dystrophy semapv:UnspecifiedMatching +MONDO:0000358 skos:exactMatch OMIMPS:119530 Orofacial cleft semapv:UnspecifiedMatching +MONDO:0000359 skos:exactMatch OMIMPS:277300 Spondylocostal dysostosis semapv:UnspecifiedMatching +MONDO:0000389 skos:exactMatch OMIMPS:108720 Atelosteogenesis semapv:UnspecifiedMatching +MONDO:0000390 skos:exactMatch OMIMPS:153840 Macular dystrophy, vitelliform semapv:UnspecifiedMatching +MONDO:0000447 skos:exactMatch OMIMPS:174050 Polycystic liver disease semapv:UnspecifiedMatching +MONDO:0000448 skos:exactMatch OMIMPS:168000 Pheochromocytoma/paraganglioma syndrome semapv:UnspecifiedMatching +MONDO:0000453 skos:exactMatch OMIMPS:609620 Short QT syndrome semapv:UnspecifiedMatching +MONDO:0000456 skos:exactMatch OMIMPS:300352 Cerebral creatine deficiency syndrome semapv:UnspecifiedMatching +MONDO:0000463 skos:exactMatch OMIMPS:236730 Urofacial syndrome semapv:UnspecifiedMatching +MONDO:0000507 skos:exactMatch OMIMPS:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia semapv:UnspecifiedMatching +MONDO:0000608 skos:exactMatch OMIMPS:162000 Tubulointerstitial kidney disease semapv:UnspecifiedMatching +MONDO:0000700 skos:exactMatch OMIMPS:141500 Migraine, familial hemiplegic semapv:UnspecifiedMatching +MONDO:0000723 skos:exactMatch OMIMPS:184450 Stuttering, familial persistent semapv:UnspecifiedMatching +MONDO:0000724 skos:exactMatch OMIMPS:606711 Specific language impairment semapv:UnspecifiedMatching +MONDO:0000732 skos:exactMatch OMIMPS:609060 Combined oxidative phosphorylation deficiency semapv:UnspecifiedMatching +MONDO:0000733 skos:exactMatch OMIMPS:121400 Cornea plana semapv:UnspecifiedMatching +MONDO:0000736 skos:exactMatch OMIMPS:127500 Dyschromatosis universalis hereditaria semapv:UnspecifiedMatching +MONDO:0000816 skos:exactMatch OMIMPS:605552 Abdominal obesity-metabolic syndrome semapv:UnspecifiedMatching +MONDO:0000819 skos:exactMatch OMIMPS:206500 Anencephaly semapv:UnspecifiedMatching +MONDO:0000824 skos:exactMatch OMIMPS:214700 Diarrhea, congenital semapv:UnspecifiedMatching +MONDO:0000863 skos:exactMatch OMIMPS:600462 Myopathy, lactic acidosis, and sideroblastic anemia semapv:UnspecifiedMatching MONDO:0000902 skos:exactMatch OMIM:218000 agenesis of the corpus callosum with peripheral neuropathy semapv:UnspecifiedMatching -MONDO:0000904 skos:exactMatch omim.ps:614039 Cortical dysplasia, complex, with other brain malformations semapv:UnspecifiedMatching +MONDO:0000904 skos:exactMatch OMIMPS:614039 Cortical dysplasia, complex, with other brain malformations semapv:UnspecifiedMatching MONDO:0000908 skos:exactMatch OMIM:615616 arrhythmogenic right ventricular dysplasia, familial, 13 semapv:UnspecifiedMatching MONDO:0000909 skos:exactMatch OMIM:613090 bartter syndrome, type 4b, neonatal, with sensorineural deafness semapv:UnspecifiedMatching MONDO:0000910 skos:exactMatch OMIM:312612 retinitis pigmentosa 6 semapv:UnspecifiedMatching @@ -100,95 +100,95 @@ MONDO:0000911 skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching MONDO:0000912 skos:exactMatch OMIM:600792 deafness, autosomal recessive 5 semapv:UnspecifiedMatching MONDO:0000913 skos:exactMatch OMIM:616649 spherocytosis, type 2 semapv:UnspecifiedMatching MONDO:0000914 skos:exactMatch OMIM:125310 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 semapv:UnspecifiedMatching -MONDO:0001029 skos:exactMatch omim.ps:118100 Klippel-Feil syndrome semapv:UnspecifiedMatching +MONDO:0001029 skos:exactMatch OMIMPS:118100 Klippel-Feil syndrome semapv:UnspecifiedMatching MONDO:0001046 skos:exactMatch OMIM:207500 anus, imperforate semapv:UnspecifiedMatching MONDO:0001046 skos:exactMatch OMIM:301800 anus, imperforate semapv:UnspecifiedMatching MONDO:0001056 skos:exactMatch OMIM:613659 gastric cancer semapv:UnspecifiedMatching -MONDO:0001115 skos:exactMatch omim.ps:133100 Erythrocytosis, familial semapv:UnspecifiedMatching +MONDO:0001115 skos:exactMatch OMIMPS:133100 Erythrocytosis, familial semapv:UnspecifiedMatching MONDO:0001187 skos:exactMatch OMIM:109800 bladder cancer semapv:UnspecifiedMatching -MONDO:0001347 skos:exactMatch omim.ps:158900 Facioscapulohumeral muscular dystrophy semapv:UnspecifiedMatching -MONDO:0001384 skos:exactMatch omim.ps:160700 Myopia semapv:UnspecifiedMatching -MONDO:0001676 skos:exactMatch omim.ps:177000 Protoporphyria, erythropoietic semapv:UnspecifiedMatching -MONDO:0001734 skos:exactMatch omim.ps:191100 Tuberous sclerosis semapv:UnspecifiedMatching +MONDO:0001347 skos:exactMatch OMIMPS:158900 Facioscapulohumeral muscular dystrophy semapv:UnspecifiedMatching +MONDO:0001384 skos:exactMatch OMIMPS:160700 Myopia semapv:UnspecifiedMatching +MONDO:0001676 skos:exactMatch OMIMPS:177000 Protoporphyria, erythropoietic semapv:UnspecifiedMatching +MONDO:0001734 skos:exactMatch OMIMPS:191100 Tuberous sclerosis semapv:UnspecifiedMatching MONDO:0002009 skos:exactMatch OMIM:608516 major depressive disorder semapv:UnspecifiedMatching -MONDO:0002010 skos:exactMatch omim.ps:305450 FG syndrome semapv:UnspecifiedMatching -MONDO:0002070 skos:exactMatch omim.ps:614429 Ventricular septal defect semapv:UnspecifiedMatching -MONDO:0002350 skos:exactMatch omim.ps:256300 Nephrotic syndrome semapv:UnspecifiedMatching -MONDO:0002408 skos:exactMatch omim.ps:237450 Hyperbilirubinemia semapv:UnspecifiedMatching -MONDO:0002412 skos:exactMatch omim.ps:232200 Glycogen storage disease semapv:UnspecifiedMatching +MONDO:0002010 skos:exactMatch OMIMPS:305450 FG syndrome semapv:UnspecifiedMatching +MONDO:0002070 skos:exactMatch OMIMPS:614429 Ventricular septal defect semapv:UnspecifiedMatching +MONDO:0002350 skos:exactMatch OMIMPS:256300 Nephrotic syndrome semapv:UnspecifiedMatching +MONDO:0002408 skos:exactMatch OMIMPS:237450 Hyperbilirubinemia semapv:UnspecifiedMatching +MONDO:0002412 skos:exactMatch OMIMPS:232200 Glycogen storage disease semapv:UnspecifiedMatching MONDO:0002422 skos:exactMatch OMIM:102660 adamantinoma of long bones semapv:UnspecifiedMatching -MONDO:0002441 skos:exactMatch omim.ps:220400 Jervell and Lange-Nielsen syndrome semapv:UnspecifiedMatching -MONDO:0002457 skos:exactMatch omim.ps:154500 Treacher Collins syndrome semapv:UnspecifiedMatching -MONDO:0002474 skos:exactMatch omim.ps:259900 Hyperoxaluria, primary semapv:UnspecifiedMatching +MONDO:0002441 skos:exactMatch OMIMPS:220400 Jervell and Lange-Nielsen syndrome semapv:UnspecifiedMatching +MONDO:0002457 skos:exactMatch OMIMPS:154500 Treacher Collins syndrome semapv:UnspecifiedMatching +MONDO:0002474 skos:exactMatch OMIMPS:259900 Hyperoxaluria, primary semapv:UnspecifiedMatching MONDO:0002629 skos:exactMatch OMIM:259500 osteogenic sarcoma semapv:UnspecifiedMatching MONDO:0002697 skos:exactMatch OMIM:424500 gonadoblastoma semapv:UnspecifiedMatching MONDO:0002974 skos:exactMatch OMIM:603956 cervical cancer semapv:UnspecifiedMatching -MONDO:0003037 skos:exactMatch omim.ps:605389 Hypotrichosis semapv:UnspecifiedMatching -MONDO:0003122 skos:exactMatch omim.ps:271930 Striatonigral degeneration semapv:UnspecifiedMatching -MONDO:0003233 skos:exactMatch omim.ps:190300 Tremor, hereditary essential semapv:UnspecifiedMatching -MONDO:0003321 skos:exactMatch omim.ps:194070 Wilms tumor semapv:UnspecifiedMatching +MONDO:0003037 skos:exactMatch OMIMPS:605389 Hypotrichosis semapv:UnspecifiedMatching +MONDO:0003122 skos:exactMatch OMIMPS:271930 Striatonigral degeneration semapv:UnspecifiedMatching +MONDO:0003233 skos:exactMatch OMIMPS:190300 Tremor, hereditary essential semapv:UnspecifiedMatching +MONDO:0003321 skos:exactMatch OMIMPS:194070 Wilms tumor semapv:UnspecifiedMatching MONDO:0003789 skos:exactMatch OMIM:605074 renal cell carcinoma, papillary, 1 semapv:UnspecifiedMatching -MONDO:0003947 skos:exactMatch omim.ps:308230 Immunodeficiency with hyper-IgM semapv:UnspecifiedMatching +MONDO:0003947 skos:exactMatch OMIMPS:308230 Immunodeficiency with hyper-IgM semapv:UnspecifiedMatching MONDO:0004573 skos:exactMatch OMIM:615026 riboflavin deficiency semapv:UnspecifiedMatching -MONDO:0004741 skos:exactMatch omim.ps:276700 Tyrosinemia semapv:UnspecifiedMatching +MONDO:0004741 skos:exactMatch OMIMPS:276700 Tyrosinemia semapv:UnspecifiedMatching MONDO:0004743 skos:exactMatch OMIM:603174 hyperhomocysteinemia semapv:UnspecifiedMatching -MONDO:0004822 skos:exactMatch omim.ps:211400 Bronchiectasis semapv:UnspecifiedMatching +MONDO:0004822 skos:exactMatch OMIMPS:211400 Bronchiectasis semapv:UnspecifiedMatching MONDO:0004914 skos:exactMatch OMIM:116870 celiac artery stenosis from compression by median arcuate ligament of diaphragm semapv:UnspecifiedMatching -MONDO:0004933 skos:exactMatch omim.ps:241550 Hypoplastic left heart syndrome semapv:UnspecifiedMatching +MONDO:0004933 skos:exactMatch OMIMPS: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:603165 dermatitis, atopic semapv:UnspecifiedMatching -MONDO:0004983 skos:exactMatch omim.ps:258150 Spermatogenic failure semapv:UnspecifiedMatching +MONDO:0004983 skos:exactMatch OMIMPS: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 -MONDO:0005083 skos:exactMatch omim.ps:177900 Psoriasis semapv:UnspecifiedMatching +MONDO:0005081 skos:exactMatch OMIMPS:189800 Preeclampsia/eclampsia semapv:UnspecifiedMatching +MONDO:0005083 skos:exactMatch OMIMPS:177900 Psoriasis semapv:UnspecifiedMatching MONDO:0005090 skos:exactMatch OMIM:181500 schizophrenia semapv:UnspecifiedMatching -MONDO:0005115 skos:exactMatch omim.ps:600512 Epilepsy, familial temporal lobe semapv:UnspecifiedMatching -MONDO:0005129 skos:exactMatch omim.ps:116200 Cataract semapv:UnspecifiedMatching -MONDO:0005130 skos:exactMatch omim.ps:212750 Celiac disease semapv:UnspecifiedMatching -MONDO:0005144 skos:exactMatch omim.ps:105400 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching +MONDO:0005115 skos:exactMatch OMIMPS:600512 Epilepsy, familial temporal lobe semapv:UnspecifiedMatching +MONDO:0005129 skos:exactMatch OMIMPS:116200 Cataract semapv:UnspecifiedMatching +MONDO:0005130 skos:exactMatch OMIMPS:212750 Celiac disease semapv:UnspecifiedMatching +MONDO:0005144 skos:exactMatch OMIMPS:105400 Amyotrophic lateral sclerosis semapv:UnspecifiedMatching MONDO:0005147 skos:exactMatch OMIM:222100 type 1 diabetes mellitus semapv:UnspecifiedMatching MONDO:0005148 skos:exactMatch OMIM:125853 type 2 diabetes mellitus semapv:UnspecifiedMatching -MONDO:0005150 skos:exactMatch omim.ps:603075 Macular degeneration, age-related semapv:UnspecifiedMatching -MONDO:0005180 skos:exactMatch omim.ps:168600 Parkinson disease semapv:UnspecifiedMatching +MONDO:0005150 skos:exactMatch OMIMPS:603075 Macular degeneration, age-related semapv:UnspecifiedMatching +MONDO:0005180 skos:exactMatch OMIMPS:168600 Parkinson disease semapv:UnspecifiedMatching MONDO:0005260 skos:exactMatch OMIM:209850 autism semapv:UnspecifiedMatching -MONDO:0005265 skos:exactMatch omim.ps:266600 Inflammatory bowel disease semapv:UnspecifiedMatching +MONDO:0005265 skos:exactMatch OMIMPS:266600 Inflammatory bowel disease semapv:UnspecifiedMatching MONDO:0005298 skos:exactMatch OMIM:166710 osteoporosis semapv:UnspecifiedMatching -MONDO:0005321 skos:exactMatch omim.ps:136800 Corneal dystrophy, Fuchs endothelial semapv:UnspecifiedMatching -MONDO:0005345 skos:exactMatch omim.ps:300633 Hypospadias semapv:UnspecifiedMatching -MONDO:0005349 skos:exactMatch omim.ps:166800 Otosclerosis semapv:UnspecifiedMatching -MONDO:0005363 skos:exactMatch omim.ps:603278 Focal segmental glomerulosclerosis semapv:UnspecifiedMatching -MONDO:0005382 skos:exactMatch omim.ps:167250 Paget disease of bone semapv:UnspecifiedMatching -MONDO:0005388 skos:exactMatch omim.ps:109720 Biliary cirrhosis, primary semapv:UnspecifiedMatching -MONDO:0005439 skos:exactMatch omim.ps:143890 Hypercholesterolemia, familial semapv:UnspecifiedMatching -MONDO:0005445 skos:exactMatch omim.ps:608207 Kala-azar, susceptibility to semapv:UnspecifiedMatching -MONDO:0005486 skos:exactMatch omim.ps:106600 Tooth agenesis, selective semapv:UnspecifiedMatching -MONDO:0005500 skos:exactMatch omim.ps:212065 Congenital disorders of glycosylation, type I semapv:UnspecifiedMatching -MONDO:0005501 skos:exactMatch omim.ps:212066 Congenital disorders of glycosylation, type II semapv:UnspecifiedMatching -MONDO:0005508 skos:exactMatch omim.ps:133700 Exostoses, Multiple semapv:UnspecifiedMatching -MONDO:0005514 skos:exactMatch omim.ps:600165 Nanophthalmos semapv:UnspecifiedMatching +MONDO:0005321 skos:exactMatch OMIMPS:136800 Corneal dystrophy, Fuchs endothelial semapv:UnspecifiedMatching +MONDO:0005345 skos:exactMatch OMIMPS:300633 Hypospadias semapv:UnspecifiedMatching +MONDO:0005349 skos:exactMatch OMIMPS:166800 Otosclerosis semapv:UnspecifiedMatching +MONDO:0005363 skos:exactMatch OMIMPS:603278 Focal segmental glomerulosclerosis semapv:UnspecifiedMatching +MONDO:0005382 skos:exactMatch OMIMPS:167250 Paget disease of bone semapv:UnspecifiedMatching +MONDO:0005388 skos:exactMatch OMIMPS:109720 Biliary cirrhosis, primary semapv:UnspecifiedMatching +MONDO:0005439 skos:exactMatch OMIMPS:143890 Hypercholesterolemia, familial semapv:UnspecifiedMatching +MONDO:0005445 skos:exactMatch OMIMPS:608207 Kala-azar, susceptibility to semapv:UnspecifiedMatching +MONDO:0005486 skos:exactMatch OMIMPS:106600 Tooth agenesis, selective semapv:UnspecifiedMatching +MONDO:0005500 skos:exactMatch OMIMPS:212065 Congenital disorders of glycosylation, type I semapv:UnspecifiedMatching +MONDO:0005501 skos:exactMatch OMIMPS:212066 Congenital disorders of glycosylation, type II semapv:UnspecifiedMatching +MONDO:0005508 skos:exactMatch OMIMPS:133700 Exostoses, Multiple semapv:UnspecifiedMatching +MONDO:0005514 skos:exactMatch OMIMPS:600165 Nanophthalmos semapv:UnspecifiedMatching MONDO:0005575 skos:exactMatch OMIM:114500 colorectal cancer semapv:UnspecifiedMatching MONDO:0005579 skos:exactMatch OMIM:600669 epilepsy, idiopathic generalized semapv:UnspecifiedMatching -MONDO:0005579 skos:exactMatch omim.ps:600669 Epilepsy, idiopathic generalized semapv:UnspecifiedMatching -MONDO:0005711 skos:exactMatch omim.ps:142340 Diaphragmatic hernia semapv:UnspecifiedMatching -MONDO:0005712 skos:exactMatch omim.ps:310700 Nystagmus, congenital semapv:UnspecifiedMatching -MONDO:0005803 skos:exactMatch omim.ps:256450 Hyperinsulinemia hypoglycemia semapv:UnspecifiedMatching -MONDO:0006037 skos:exactMatch omim.ps:236680 Hydrolethalus syndrome semapv:UnspecifiedMatching +MONDO:0005579 skos:exactMatch OMIMPS:600669 Epilepsy, idiopathic generalized semapv:UnspecifiedMatching +MONDO:0005711 skos:exactMatch OMIMPS:142340 Diaphragmatic hernia semapv:UnspecifiedMatching +MONDO:0005712 skos:exactMatch OMIMPS:310700 Nystagmus, congenital semapv:UnspecifiedMatching +MONDO:0005803 skos:exactMatch OMIMPS:256450 Hyperinsulinemia hypoglycemia semapv:UnspecifiedMatching +MONDO:0006037 skos:exactMatch OMIMPS:236680 Hydrolethalus syndrome semapv:UnspecifiedMatching MONDO:0006065 skos:exactMatch OMIM:223100 lactose intolerance, adult type semapv:UnspecifiedMatching -MONDO:0006248 skos:exactMatch omim.ps:231090 Hydatidiform mole, recurrent semapv:UnspecifiedMatching +MONDO:0006248 skos:exactMatch OMIMPS:231090 Hydatidiform mole, recurrent semapv:UnspecifiedMatching MONDO:0006292 skos:exactMatch OMIM:156240 mesothelioma, malignant semapv:UnspecifiedMatching MONDO:0006486 skos:exactMatch OMIM:155720 melanoma, uveal semapv:UnspecifiedMatching -MONDO:0006507 skos:exactMatch omim.ps:235200 Hemochromatosis semapv:UnspecifiedMatching -MONDO:0006536 skos:exactMatch omim.ps:608594 Lipodystrophy, congenital generalized semapv:UnspecifiedMatching -MONDO:0006602 skos:exactMatch omim.ps:175800 Porokeratosis semapv:UnspecifiedMatching -MONDO:0006664 skos:exactMatch omim.ps:108800 Atrial septal defect semapv:UnspecifiedMatching +MONDO:0006507 skos:exactMatch OMIMPS:235200 Hemochromatosis semapv:UnspecifiedMatching +MONDO:0006536 skos:exactMatch OMIMPS:608594 Lipodystrophy, congenital generalized semapv:UnspecifiedMatching +MONDO:0006602 skos:exactMatch OMIMPS:175800 Porokeratosis semapv:UnspecifiedMatching +MONDO:0006664 skos:exactMatch OMIMPS:108800 Atrial septal defect semapv:UnspecifiedMatching MONDO:0006761 skos:exactMatch OMIM:135580 fibromuscular dysplasia, arterial semapv:UnspecifiedMatching -MONDO:0007029 skos:exactMatch omim.ps:113650 Branchiootorenal syndrome semapv:UnspecifiedMatching +MONDO:0007029 skos:exactMatch OMIMPS:113650 Branchiootorenal syndrome semapv:UnspecifiedMatching MONDO:0007030 skos:exactMatch OMIM:100050 aarskog syndrome, autosomal dominant semapv:UnspecifiedMatching -MONDO:0007031 skos:exactMatch omim.ps:100070 Aortic aneurysm, familial abdominal semapv:UnspecifiedMatching +MONDO:0007031 skos:exactMatch OMIMPS:100070 Aortic aneurysm, familial abdominal semapv:UnspecifiedMatching MONDO:0007032 skos:exactMatch OMIM:100100 prune belly syndrome semapv:UnspecifiedMatching MONDO:0007033 skos:exactMatch OMIM:100200 abducens palsy semapv:UnspecifiedMatching -MONDO:0007034 skos:exactMatch omim.ps:100300 Adams-Oliver syndrome semapv:UnspecifiedMatching +MONDO:0007034 skos:exactMatch OMIMPS:100300 Adams-Oliver syndrome semapv:UnspecifiedMatching MONDO:0007036 skos:exactMatch OMIM:100700 achard syndrome semapv:UnspecifiedMatching MONDO:0007037 skos:exactMatch OMIM:100800 achondroplasia semapv:UnspecifiedMatching MONDO:0007038 skos:exactMatch OMIM:100820 achoo syndrome semapv:UnspecifiedMatching @@ -217,7 +217,7 @@ MONDO:0007060 skos:exactMatch OMIM:102530 spermatogenic failure 6 semapv:Unspec MONDO:0007061 skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching MONDO:0007062 skos:exactMatch OMIM:102650 adactylia, unilateral semapv:UnspecifiedMatching MONDO:0007064 skos:exactMatch OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency semapv:UnspecifiedMatching -MONDO:0007066 skos:exactMatch OMIM:102800 adenosine triphosphatase deficiency, anemia due to semapv:UnspecifiedMatching +MONDO:0007066 skos:exactMatch OMIM:102800 semapv:UnspecifiedMatching MONDO:0007067 skos:exactMatch OMIM:102900 adenosine triphosphate, elevated, of erythrocytes semapv:UnspecifiedMatching MONDO:0007068 skos:exactMatch OMIM:103050 adenylosuccinase deficiency semapv:UnspecifiedMatching MONDO:0007070 skos:exactMatch OMIM:103200 adiposis dolorosa semapv:UnspecifiedMatching @@ -248,8 +248,8 @@ MONDO:0007096 skos:exactMatch OMIM:104600 amenorrhea-galactorrhea syndrome sema MONDO:0007097 skos:exactMatch OMIM:105120 amyloidosis, finnish type semapv:UnspecifiedMatching MONDO:0007098 skos:exactMatch OMIM:105150 cerebral amyloid angiopathy, cst3-related semapv:UnspecifiedMatching MONDO:0007099 skos:exactMatch OMIM:105200 amyloidosis, hereditary systemic 2 semapv:UnspecifiedMatching -MONDO:0007100 skos:exactMatch omim.ps:105210 Amyloidosis, hereditary systemic semapv:UnspecifiedMatching -MONDO:0007101 skos:exactMatch omim.ps:105250 Amyloidosis, primary localized cutaneous semapv:UnspecifiedMatching +MONDO:0007100 skos:exactMatch OMIMPS:105210 Amyloidosis, hereditary systemic semapv:UnspecifiedMatching +MONDO:0007101 skos:exactMatch OMIMPS:105250 Amyloidosis, primary localized cutaneous semapv:UnspecifiedMatching MONDO:0007102 skos:exactMatch OMIM:105300 amyotrophic dystonic paraplegia semapv:UnspecifiedMatching MONDO:0007103 skos:exactMatch OMIM:105400 amyotrophic lateral sclerosis 1 semapv:UnspecifiedMatching MONDO:0007104 skos:exactMatch OMIM:105500 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 semapv:UnspecifiedMatching @@ -266,7 +266,7 @@ MONDO:0007114 skos:exactMatch OMIM:105835 angel-shaped phalangoepiphyseal dyspl MONDO:0007115 skos:exactMatch OMIM:106050 angioma serpiginosum, autosomal dominant semapv:UnspecifiedMatching MONDO:0007116 skos:exactMatch OMIM:106070 angioma, hereditary neurocutaneous semapv:UnspecifiedMatching MONDO:0007118 skos:exactMatch OMIM:106190 anhidrosis, isolated, with normal sweat glands semapv:UnspecifiedMatching -MONDO:0007119 skos:exactMatch omim.ps:106210 Aniridia semapv:UnspecifiedMatching +MONDO:0007119 skos:exactMatch OMIMPS:106210 Aniridia semapv:UnspecifiedMatching MONDO:0007120 skos:exactMatch OMIM:106220 aniridia and absent patella semapv:UnspecifiedMatching MONDO:0007121 skos:exactMatch OMIM:106230 aniridia, microcornea, and spontaneously reabsorbed cataract semapv:UnspecifiedMatching MONDO:0007122 skos:exactMatch OMIM:106240 anisocoria semapv:UnspecifiedMatching @@ -287,7 +287,7 @@ MONDO:0007137 skos:exactMatch OMIM:107200 anosmia, isolated congenital semapv:U MONDO:0007138 skos:exactMatch OMIM:107250 anterior segment dysgenesis 1 semapv:UnspecifiedMatching MONDO:0007139 skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching MONDO:0007141 skos:exactMatch OMIM:107440 antiviral state repressor, regulator of semapv:UnspecifiedMatching -MONDO:0007142 skos:exactMatch omim.ps:107480 Townes-Brocks syndrome semapv:UnspecifiedMatching +MONDO:0007142 skos:exactMatch OMIMPS:107480 Townes-Brocks syndrome semapv:UnspecifiedMatching MONDO:0007143 skos:exactMatch OMIM:107500 aortic arch anomaly with peculiar facies and impaired intellectual development semapv:UnspecifiedMatching MONDO:0007144 skos:exactMatch OMIM:107550 aortic arch interruption, facial palsy, and retinal coloboma semapv:UnspecifiedMatching MONDO:0007145 skos:exactMatch OMIM:107600 aplasia cutis congenita, nonsyndromic semapv:UnspecifiedMatching @@ -331,14 +331,14 @@ MONDO:0007183 skos:exactMatch OMIM:109160 azotemia, familial semapv:Unspecified MONDO:0007184 skos:exactMatch OMIM:109200 alopecia, androgenetic, 1 semapv:UnspecifiedMatching MONDO:0007185 skos:exactMatch OMIM:109300 banki syndrome semapv:UnspecifiedMatching MONDO:0007186 skos:exactMatch OMIM:109350 gastroesophageal reflux semapv:UnspecifiedMatching -MONDO:0007187 skos:exactMatch omim.ps:109400 Basal cell nevus syndrome semapv:UnspecifiedMatching +MONDO:0007187 skos:exactMatch OMIMPS:109400 Basal cell nevus syndrome semapv:UnspecifiedMatching MONDO:0007188 skos:exactMatch OMIM:109500 basilar impression, primary semapv:UnspecifiedMatching MONDO:0007189 skos:exactMatch OMIM:109540 b-cell growth factor semapv:UnspecifiedMatching MONDO:0007190 skos:exactMatch OMIM:109543 leukemia, chronic lymphocytic, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0007191 skos:exactMatch OMIM:109650 Behcet syndrome semapv:UnspecifiedMatching MONDO:0007192 skos:exactMatch OMIM:109660 beta-amino acids, renal transport of semapv:UnspecifiedMatching MONDO:0007193 skos:exactMatch OMIM:109720 biliary cirrhosis, primary, 1 semapv:UnspecifiedMatching -MONDO:0007194 skos:exactMatch omim.ps:109730 Aortic valve disease semapv:UnspecifiedMatching +MONDO:0007194 skos:exactMatch OMIMPS:109730 Aortic valve disease semapv:UnspecifiedMatching MONDO:0007195 skos:exactMatch OMIM:109740 bifid nose, autosomal dominant semapv:UnspecifiedMatching MONDO:0007197 skos:exactMatch OMIM:109820 bladder diverticulum semapv:UnspecifiedMatching MONDO:0007198 skos:exactMatch OMIM:109900 blepharochalasis and double 51p semapv:UnspecifiedMatching @@ -381,7 +381,7 @@ MONDO:0007234 skos:exactMatch OMIM:113610 branchial myoclonus with spastic para MONDO:0007235 skos:exactMatch OMIM:113620 branchiooculofacial syndrome semapv:UnspecifiedMatching MONDO:0007236 skos:exactMatch OMIM:113650 branchiootorenal syndrome 1 semapv:UnspecifiedMatching MONDO:0007237 skos:exactMatch OMIM:113670 hypertrophy of the breast, juvenile semapv:UnspecifiedMatching -MONDO:0007239 skos:exactMatch omim.ps:113800 Epidermolytic hyperkeratosis semapv:UnspecifiedMatching +MONDO:0007239 skos:exactMatch OMIMPS:113800 Epidermolytic hyperkeratosis semapv:UnspecifiedMatching MONDO:0007240 skos:exactMatch OMIM:113900 progressive familial heart block, type 1a semapv:UnspecifiedMatching MONDO:0007241 skos:exactMatch OMIM:113950 bundle branch block, familial isolated complete right semapv:UnspecifiedMatching MONDO:0007242 skos:exactMatch OMIM:113960 butyrylesterase 1 semapv:UnspecifiedMatching @@ -412,7 +412,7 @@ MONDO:0007271 skos:exactMatch OMIM:115250 collagenoma, familial cutaneous semap MONDO:0007272 skos:exactMatch OMIM:115300 hypercarotenemia and vitamin a deficiency, autosomal dominant semapv:UnspecifiedMatching MONDO:0007273 skos:exactMatch OMIM:115310 pheochromocytoma/paraganglioma syndrome 4 semapv:UnspecifiedMatching MONDO:0007274 skos:exactMatch OMIM:115400 carpal displacement semapv:UnspecifiedMatching -MONDO:0007275 skos:exactMatch omim.ps:115430 Carpal tunnel syndrome semapv:UnspecifiedMatching +MONDO:0007275 skos:exactMatch OMIMPS:115430 Carpal tunnel syndrome semapv:UnspecifiedMatching MONDO:0007276 skos:exactMatch OMIM:115470 cat eye syndrome semapv:UnspecifiedMatching MONDO:0007277 skos:exactMatch OMIM:115645 cataract, aberrant oral frenula, and growth retardation semapv:UnspecifiedMatching MONDO:0007278 skos:exactMatch OMIM:115650 cataract 32, multiple types semapv:UnspecifiedMatching @@ -452,7 +452,7 @@ MONDO:0007314 skos:exactMatch OMIM:118350 chemodectoma, intraabdominal, with cu MONDO:0007315 skos:exactMatch OMIM:118400 cherubism semapv:UnspecifiedMatching MONDO:0007316 skos:exactMatch OMIM:118420 chiari malformation type 1 semapv:UnspecifiedMatching MONDO:0007317 skos:exactMatch OMIM:118430 chlorpropamide-alcohol flushing semapv:UnspecifiedMatching -MONDO:0007318 skos:exactMatch omim.ps:118450 Alagille syndrome semapv:UnspecifiedMatching +MONDO:0007318 skos:exactMatch OMIMPS:118450 Alagille syndrome semapv:UnspecifiedMatching MONDO:0007319 skos:exactMatch OMIM:118600 chondrocalcinosis 2 semapv:UnspecifiedMatching MONDO:0007320 skos:exactMatch OMIM:118610 chondrocalcinosis due to apatite crystal deposition semapv:UnspecifiedMatching MONDO:0007321 skos:exactMatch OMIM:118650 chondrodysplasia punctata, autosomal dominant semapv:UnspecifiedMatching @@ -471,7 +471,7 @@ MONDO:0007335 skos:exactMatch OMIM:119530 orofacial cleft 1 semapv:UnspecifiedM MONDO:0007336 skos:exactMatch OMIM:119540 cleft palate, isolated semapv:UnspecifiedMatching MONDO:0007337 skos:exactMatch OMIM:119550 syngnathia semapv:UnspecifiedMatching MONDO:0007338 skos:exactMatch OMIM:119570 cleft soft palate semapv:UnspecifiedMatching -MONDO:0007339 skos:exactMatch omim.ps:119580 Blepharocheilodontic syndrome semapv:UnspecifiedMatching +MONDO:0007339 skos:exactMatch OMIMPS:119580 Blepharocheilodontic syndrome semapv:UnspecifiedMatching MONDO:0007340 skos:exactMatch OMIM:119600 cleidocranial dysplasia 1 semapv:UnspecifiedMatching MONDO:0007341 skos:exactMatch OMIM:119650 cleidorhizomelic syndrome semapv:UnspecifiedMatching MONDO:0007342 skos:exactMatch OMIM:119800 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly semapv:UnspecifiedMatching @@ -511,7 +511,7 @@ MONDO:0007375 skos:exactMatch OMIM:121820 corneal dystrophy, epithelial basemen MONDO:0007376 skos:exactMatch OMIM:121850 corneal dystrophy, fleck semapv:UnspecifiedMatching MONDO:0007377 skos:exactMatch OMIM:121900 corneal dystrophy, groenouw type 1 semapv:UnspecifiedMatching MONDO:0007378 skos:exactMatch OMIM:122000 corneal dystrophy, posterior polymorphous, 1 semapv:UnspecifiedMatching -MONDO:0007379 skos:exactMatch omim.ps:122100 Corneal dystrophy, Meesmann semapv:UnspecifiedMatching +MONDO:0007379 skos:exactMatch OMIMPS:122100 Corneal dystrophy, Meesmann semapv:UnspecifiedMatching MONDO:0007380 skos:exactMatch OMIM:122200 corneal dystrophy, lattice type 1 semapv:UnspecifiedMatching MONDO:0007381 skos:exactMatch OMIM:122400 epithelial recurrent erosion dystrophy semapv:UnspecifiedMatching MONDO:0007382 skos:exactMatch OMIM:122430 ramos-arroyo syndrome semapv:UnspecifiedMatching @@ -562,7 +562,7 @@ MONDO:0007428 skos:exactMatch OMIM:125230 deafness-craniofacial syndrome semapv MONDO:0007429 skos:exactMatch OMIM:125250 optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy semapv:UnspecifiedMatching MONDO:0007430 skos:exactMatch OMIM:125280 dens evaginatus semapv:UnspecifiedMatching MONDO:0007431 skos:exactMatch OMIM:125300 dens 1n dente and palatal invaginations semapv:UnspecifiedMatching -MONDO:0007432 skos:exactMatch omim.ps:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0007432 skos:exactMatch OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy semapv:UnspecifiedMatching MONDO:0007433 skos:exactMatch OMIM:125320 dementia/parkinsonism with non-alzheimer amyloid plaques semapv:UnspecifiedMatching MONDO:0007434 skos:exactMatch OMIM:125350 failure of tooth eruption, primary semapv:UnspecifiedMatching MONDO:0007435 skos:exactMatch OMIM:125370 dentatorubral-pallidoluysian atrophy semapv:UnspecifiedMatching @@ -591,7 +591,7 @@ MONDO:0007458 skos:exactMatch OMIM:126050 digitotalar dysmorphism semapv:Unspec MONDO:0007459 skos:exactMatch OMIM:126070 dilution, pigmentary semapv:UnspecifiedMatching MONDO:0007460 skos:exactMatch OMIM:126180 discrimination, two-point, reduction 1n semapv:UnspecifiedMatching MONDO:0007461 skos:exactMatch OMIM:126190 disproportionate short stature with ptosis and valvular heart lesions semapv:UnspecifiedMatching -MONDO:0007462 skos:exactMatch omim.ps:126200 Multiple sclerosis, susceptibility to semapv:UnspecifiedMatching +MONDO:0007462 skos:exactMatch OMIMPS:126200 Multiple sclerosis, susceptibility to semapv:UnspecifiedMatching MONDO:0007463 skos:exactMatch OMIM:126250 distal osteosclerosis semapv:UnspecifiedMatching MONDO:0007464 skos:exactMatch OMIM:126300 distichiasis semapv:UnspecifiedMatching MONDO:0007465 skos:exactMatch OMIM:126320 distichiasis with congenital anomalies of the heart and peripheral vasculature semapv:UnspecifiedMatching @@ -602,11 +602,11 @@ MONDO:0007469 skos:exactMatch OMIM:126500 double nail for fifth toe semapv:Unsp MONDO:0007470 skos:exactMatch OMIM:126550 calvarial doughnut lesions with bone fragility semapv:UnspecifiedMatching MONDO:0007471 skos:exactMatch OMIM:126600 doyne honeycomb retinal dystrophy semapv:UnspecifiedMatching MONDO:0007472 skos:exactMatch OMIM:126700 basal laminar drusen semapv:UnspecifiedMatching -MONDO:0007473 skos:exactMatch omim.ps:126800 Duane retraction syndrome semapv:UnspecifiedMatching +MONDO:0007473 skos:exactMatch OMIMPS:126800 Duane retraction syndrome semapv:UnspecifiedMatching MONDO:0007474 skos:exactMatch OMIM:126840 duodenal ulcer due to antral g-cell hyperfunction semapv:UnspecifiedMatching MONDO:0007475 skos:exactMatch OMIM:126850 duodenal ulcer, hyperpepsinogenemic 1 semapv:UnspecifiedMatching MONDO:0007476 skos:exactMatch OMIM:126900 dupuytren contracture semapv:UnspecifiedMatching -MONDO:0007477 skos:exactMatch omim.ps:273750 Three M syndrome semapv:UnspecifiedMatching +MONDO:0007477 skos:exactMatch OMIMPS:273750 Three M syndrome semapv:UnspecifiedMatching MONDO:0007478 skos:exactMatch OMIM:127000 kenny-caffey syndrome, type 2 semapv:UnspecifiedMatching MONDO:0007479 skos:exactMatch OMIM:127100 dwarfism, levi type semapv:UnspecifiedMatching MONDO:0007480 skos:exactMatch OMIM:127200 dwarfism with stiff joints and ocular abnormalities semapv:UnspecifiedMatching @@ -729,7 +729,7 @@ MONDO:0007608 skos:exactMatch OMIM:135290 desmoid disease, hereditary semapv:Un MONDO:0007609 skos:exactMatch OMIM:135300 fibromatosis, gingival, 1 semapv:UnspecifiedMatching MONDO:0007610 skos:exactMatch OMIM:135400 hypertrichosis, congenital generalized, 3, with or without gingival hyperplasia semapv:UnspecifiedMatching MONDO:0007612 skos:exactMatch OMIM:135550 fibromatosis, gingival, with progressive deafness semapv:UnspecifiedMatching -MONDO:0007614 skos:exactMatch omim.ps:135700 Fibrosis of extraocular muscles, congenital semapv:UnspecifiedMatching +MONDO:0007614 skos:exactMatch OMIMPS:135700 Fibrosis of extraocular muscles, congenital semapv:UnspecifiedMatching MONDO:0007615 skos:exactMatch OMIM:135750 laurin-sandrow syndrome semapv:UnspecifiedMatching MONDO:0007616 skos:exactMatch OMIM:135800 fibula, recurrent dislocation of head of semapv:UnspecifiedMatching MONDO:0007617 skos:exactMatch OMIM:135900 coffin-siris syndrome 1 semapv:UnspecifiedMatching @@ -781,7 +781,7 @@ MONDO:0007664 skos:exactMatch OMIM:137750 glaucoma 1, open angle, a semapv:Unsp MONDO:0007666 skos:exactMatch OMIM:137763 glaucoma and sleep apnea semapv:UnspecifiedMatching MONDO:0007668 skos:exactMatch OMIM:137900 globulin anomaly involving beta (2a)-globulin semapv:UnspecifiedMatching MONDO:0007669 skos:exactMatch OMIM:137920 renal cysts and diabetes syndrome semapv:UnspecifiedMatching -MONDO:0007671 skos:exactMatch omim.ps:137950 Glomerulopathy with fibronectin deposits semapv:UnspecifiedMatching +MONDO:0007671 skos:exactMatch OMIMPS:137950 Glomerulopathy with fibronectin deposits semapv:UnspecifiedMatching MONDO:0007672 skos:exactMatch OMIM:138000 glomuvenous malformations semapv:UnspecifiedMatching MONDO:0007673 skos:exactMatch OMIM:138070 glucoglycinuria semapv:UnspecifiedMatching MONDO:0007674 skos:exactMatch OMIM:138110 glucose-6-phosphate dehydrogenase-like semapv:UnspecifiedMatching @@ -970,7 +970,7 @@ MONDO:0007868 skos:exactMatch OMIM:149400 hyperekplexia 1 semapv:UnspecifiedMat MONDO:0007869 skos:exactMatch OMIM:149500 kyrle disease semapv:UnspecifiedMatching MONDO:0007870 skos:exactMatch OMIM:149600 labia minora, incomplete adhesion of semapv:UnspecifiedMatching MONDO:0007871 skos:exactMatch OMIM:149700 lacrimal duct defect semapv:UnspecifiedMatching -MONDO:0007872 skos:exactMatch omim.ps:149730 Lacrimoauriculodentodigital syndrome semapv:UnspecifiedMatching +MONDO:0007872 skos:exactMatch OMIMPS:149730 Lacrimoauriculodentodigital syndrome semapv:UnspecifiedMatching MONDO:0007873 skos:exactMatch OMIM:150170 lactic acidosis, chronic adult form semapv:UnspecifiedMatching MONDO:0007874 skos:exactMatch OMIM:150230 trichorhinophalangeal syndrome, type 2 semapv:UnspecifiedMatching MONDO:0007875 skos:exactMatch OMIM:150250 larsen syndrome semapv:UnspecifiedMatching @@ -990,7 +990,7 @@ MONDO:0007888 skos:exactMatch OMIM:150800 hereditary leiomyomatosis and renal c MONDO:0007890 skos:exactMatch OMIM:151000 lentiginosis, centrofacial neurodysraphic semapv:UnspecifiedMatching MONDO:0007891 skos:exactMatch OMIM:151001 lentiginosis, inherited patterned semapv:UnspecifiedMatching MONDO:0007892 skos:exactMatch OMIM:151050 lenz-majewski hyperostotic dwarfism semapv:UnspecifiedMatching -MONDO:0007893 skos:exactMatch omim.ps:151100 LEOPARD syndrome semapv:UnspecifiedMatching +MONDO:0007893 skos:exactMatch OMIMPS:151100 LEOPARD syndrome semapv:UnspecifiedMatching MONDO:0007894 skos:exactMatch OMIM:151200 chromosome 8q22.1 duplication syndrome semapv:UnspecifiedMatching MONDO:0007895 skos:exactMatch OMIM:151210 platyspondylic lethal skeletal dysplasia, torrance type semapv:UnspecifiedMatching MONDO:0007896 skos:exactMatch OMIM:151380 leukemia, acute monocytic semapv:UnspecifiedMatching @@ -1088,7 +1088,7 @@ MONDO:0007999 skos:exactMatch OMIM:157170 holoprosencephaly 2 semapv:Unspecifie MONDO:0008000 skos:exactMatch OMIM:157300 migraine with or without aura, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008001 skos:exactMatch OMIM:157400 milia, multiple eruptive semapv:UnspecifiedMatching MONDO:0008002 skos:exactMatch OMIM:157600 mirror movements 1 semapv:UnspecifiedMatching -MONDO:0008004 skos:exactMatch omim.ps:157700 Mitral valve prolapse, myxomatous semapv:UnspecifiedMatching +MONDO:0008004 skos:exactMatch OMIMPS:157700 Mitral valve prolapse, myxomatous semapv:UnspecifiedMatching MONDO:0008005 skos:exactMatch OMIM:157800 cardiospondylocarpofacial syndrome semapv:UnspecifiedMatching MONDO:0008006 skos:exactMatch OMIM:157900 moebius syndrome semapv:UnspecifiedMatching MONDO:0008007 skos:exactMatch OMIM:157950 permanent molars, secondary retention of semapv:UnspecifiedMatching @@ -1113,7 +1113,7 @@ MONDO:0008025 skos:exactMatch OMIM:158590 neuronopathy, distal hereditary motor MONDO:0008026 skos:exactMatch OMIM:158600 spinal muscular atrophy, lower extremity-predominant, 1, autosomal dominant semapv:UnspecifiedMatching MONDO:0008027 skos:exactMatch OMIM:158650 muscular atrophy, malignant neurogenic semapv:UnspecifiedMatching MONDO:0008028 skos:exactMatch OMIM:158800 muscular dystrophy, barnes type semapv:UnspecifiedMatching -MONDO:0008029 skos:exactMatch omim.ps:158810 Bethlem myopathy semapv:UnspecifiedMatching +MONDO:0008029 skos:exactMatch OMIMPS:158810 Bethlem myopathy semapv:UnspecifiedMatching MONDO:0008030 skos:exactMatch OMIM:158900 facioscapulohumeral muscular dystrophy 1 semapv:UnspecifiedMatching MONDO:0008031 skos:exactMatch OMIM:158901 facioscapulohumeral muscular dystrophy 2, digenic semapv:UnspecifiedMatching MONDO:0008034 skos:exactMatch OMIM:159050 muscular dystrophy, pseudohypertrophic, with internalized capillaries semapv:UnspecifiedMatching @@ -1132,7 +1132,7 @@ MONDO:0008047 skos:exactMatch OMIM:160120 episodic ataxia, type 1 semapv:Unspec MONDO:0008048 skos:exactMatch OMIM:160150 myopathy, centronuclear, 1 semapv:UnspecifiedMatching MONDO:0008049 skos:exactMatch OMIM:160300 myopathy, distal, infantile-onset semapv:UnspecifiedMatching MONDO:0008050 skos:exactMatch OMIM:160500 myopathy, distal, 1 semapv:UnspecifiedMatching -MONDO:0008051 skos:exactMatch omim.ps:160565 Myopathy, tubular aggregate semapv:UnspecifiedMatching +MONDO:0008051 skos:exactMatch OMIMPS:160565 Myopathy, tubular aggregate semapv:UnspecifiedMatching MONDO:0008052 skos:exactMatch OMIM:160570 myopathy with storage of glycoproteins and glycosaminoglycans semapv:UnspecifiedMatching MONDO:0008053 skos:exactMatch OMIM:160700 myopia 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0008055 skos:exactMatch OMIM:160800 myotonia congenita, autosomal dominant semapv:UnspecifiedMatching @@ -1155,7 +1155,7 @@ MONDO:0008071 skos:exactMatch OMIM:161900 renal failure, progressive, with hype MONDO:0008072 skos:exactMatch OMIM:161950 iga nephropathy, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0008073 skos:exactMatch OMIM:162000 tubulointerstitial kidney disease, autosomal dominant, 1 semapv:UnspecifiedMatching MONDO:0008074 skos:exactMatch OMIM:162020 semapv:UnspecifiedMatching -MONDO:0008075 skos:exactMatch omim.ps:162091 Schwannomatosis semapv:UnspecifiedMatching +MONDO:0008075 skos:exactMatch OMIMPS:162091 Schwannomatosis semapv:UnspecifiedMatching MONDO:0008076 skos:exactMatch OMIM:162100 amyotrophy, hereditary neuralgic semapv:UnspecifiedMatching MONDO:0008078 skos:exactMatch OMIM:162210 neurofibromatosis, familial spinal semapv:UnspecifiedMatching MONDO:0008079 skos:exactMatch OMIM:162240 neurofibromatosis-pheochromocytoma-duodenal carcinoid syndrome semapv:UnspecifiedMatching @@ -1194,7 +1194,7 @@ MONDO:0008111 skos:exactMatch OMIM:164200 oculodentodigital dysplasia semapv:Un MONDO:0008113 skos:exactMatch OMIM:164220 schilbach-rott syndrome semapv:UnspecifiedMatching MONDO:0008114 skos:exactMatch OMIM:164230 obsessive-compulsive disorder semapv:UnspecifiedMatching MONDO:0008115 skos:exactMatch OMIM:164280 feingold syndrome 1 semapv:UnspecifiedMatching -MONDO:0008116 skos:exactMatch omim.ps:164300 Oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching +MONDO:0008116 skos:exactMatch OMIMPS:164300 Oculopharyngeal muscular dystrophy semapv:UnspecifiedMatching MONDO:0008118 skos:exactMatch OMIM:164330 odontoma-dysphagia syndrome semapv:UnspecifiedMatching MONDO:0008119 skos:exactMatch OMIM:164400 spinocerebellar ataxia 1 semapv:UnspecifiedMatching MONDO:0008121 skos:exactMatch OMIM:164680 onychogryposis, pedal, with keratosis plantaris and coarse hair semapv:UnspecifiedMatching @@ -1236,7 +1236,7 @@ MONDO:0008158 skos:exactMatch OMIM:166705 osteopoikilosis and dacryocystitis se MONDO:0008160 skos:exactMatch OMIM:166740 osteosclerosis with ichthyosis and fractures semapv:UnspecifiedMatching MONDO:0008161 skos:exactMatch OMIM:166750 otodental dysplasia semapv:UnspecifiedMatching MONDO:0008162 skos:exactMatch OMIM:166760 otitis media, susceptibility to semapv:UnspecifiedMatching -MONDO:0008163 skos:exactMatch omim.ps:166780 Otofaciocervical syndrome semapv:UnspecifiedMatching +MONDO:0008163 skos:exactMatch OMIMPS:166780 Otofaciocervical syndrome semapv:UnspecifiedMatching MONDO:0008164 skos:exactMatch OMIM:166800 otosclerosis 1 semapv:UnspecifiedMatching MONDO:0008165 skos:exactMatch OMIM:166900 ovalocytosis, southeast asian semapv:UnspecifiedMatching MONDO:0008166 skos:exactMatch OMIM:166910 ovalocytosis, hereditary hemolytic, with defective erythropoiesis semapv:UnspecifiedMatching @@ -1387,7 +1387,7 @@ MONDO:0008319 skos:exactMatch OMIM:177000 protoporphyria, erythropoietic, 1 sem MONDO:0008320 skos:exactMatch OMIM:177050 protrusio acetabuli semapv:UnspecifiedMatching MONDO:0008321 skos:exactMatch OMIM:177100 pruritus, hereditary localized semapv:UnspecifiedMatching MONDO:0008322 skos:exactMatch OMIM:177170 pseudoachondroplasia semapv:UnspecifiedMatching -MONDO:0008323 skos:exactMatch omim.ps:177200 Liddle syndrome semapv:UnspecifiedMatching +MONDO:0008323 skos:exactMatch OMIMPS:177200 Liddle syndrome semapv:UnspecifiedMatching MONDO:0008324 skos:exactMatch OMIM:177300 pseudoarthrogryposis semapv:UnspecifiedMatching MONDO:0008325 skos:exactMatch OMIM:177350 pseudoatrophoderma colli semapv:UnspecifiedMatching MONDO:0008326 skos:exactMatch OMIM:177600 pseudocholinesterase, increase 1n plasma level of semapv:UnspecifiedMatching @@ -1450,7 +1450,7 @@ MONDO:0008390 skos:exactMatch OMIM:180730 rombo syndrome semapv:UnspecifiedMatc MONDO:0008391 skos:exactMatch OMIM:180750 robinow-sorauf syndrome semapv:UnspecifiedMatching MONDO:0008392 skos:exactMatch OMIM:180800 roussy-levy hereditary areflexic dystasia semapv:UnspecifiedMatching MONDO:0008393 skos:exactMatch OMIM:180849 rubinstein-taybi syndrome 1 semapv:UnspecifiedMatching -MONDO:0008394 skos:exactMatch omim.ps:180860 Silver-Russell syndrome semapv:UnspecifiedMatching +MONDO:0008394 skos:exactMatch OMIMPS:180860 Silver-Russell syndrome semapv:UnspecifiedMatching MONDO:0008395 skos:exactMatch OMIM:180870 ruvalcaba syndrome semapv:UnspecifiedMatching MONDO:0008396 skos:exactMatch OMIM:180900 rutherfurd syndrome semapv:UnspecifiedMatching MONDO:0008397 skos:exactMatch OMIM:180920 aplasia of lacrimal and salivary glands semapv:UnspecifiedMatching @@ -1482,7 +1482,7 @@ MONDO:0008425 skos:exactMatch OMIM:182210 shprintzen omphalocele syndrome semap MONDO:0008426 skos:exactMatch OMIM:182212 shprintzen-goldberg craniosynostosis syndrome semapv:UnspecifiedMatching MONDO:0008427 skos:exactMatch OMIM:182220 sister chromatid exchange, frequency of semapv:UnspecifiedMatching MONDO:0008428 skos:exactMatch OMIM:182230 septooptic dysplasia semapv:UnspecifiedMatching -MONDO:0008429 skos:exactMatch omim.ps:182250 Singleton-Merten syndrome semapv:UnspecifiedMatching +MONDO:0008429 skos:exactMatch OMIMPS:182250 Singleton-Merten syndrome semapv:UnspecifiedMatching MONDO:0008430 skos:exactMatch OMIM:182255 skeletal dysplasia with delayed epiphyseal and carpal bone ossification semapv:UnspecifiedMatching MONDO:0008432 skos:exactMatch OMIM:182270 ketone compounds, ability to smell semapv:UnspecifiedMatching MONDO:0008433 skos:exactMatch OMIM:182280 small cell cancer of the lung semapv:UnspecifiedMatching @@ -1560,7 +1560,7 @@ MONDO:0008507 skos:exactMatch OMIM:185610 surface polypeptides, anonymous semap MONDO:0008508 skos:exactMatch OMIM:185650 symphalangism, c. s. lewis type semapv:UnspecifiedMatching MONDO:0008509 skos:exactMatch OMIM:185700 symphalangism, distal semapv:UnspecifiedMatching MONDO:0008510 skos:exactMatch OMIM:185750 symphalangism with multiple anomalies of hands and feet semapv:UnspecifiedMatching -MONDO:0008511 skos:exactMatch omim.ps:185800 Proximal symphalangism semapv:UnspecifiedMatching +MONDO:0008511 skos:exactMatch OMIMPS:185800 Proximal symphalangism semapv:UnspecifiedMatching MONDO:0008512 skos:exactMatch OMIM:185900 chromosome 2q35 duplication syndrome semapv:UnspecifiedMatching MONDO:0008513 skos:exactMatch OMIM:186000 synpolydactyly 1 semapv:UnspecifiedMatching MONDO:0008514 skos:exactMatch OMIM:186100 syndactyly, type 3 semapv:UnspecifiedMatching @@ -1767,7 +1767,7 @@ MONDO:0008729 skos:exactMatch OMIM:202010 adrenal hyperplasia, congenital, due MONDO:0008730 skos:exactMatch OMIM:202110 adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency semapv:UnspecifiedMatching MONDO:0008731 skos:exactMatch OMIM:202150 adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone semapv:UnspecifiedMatching MONDO:0008732 skos:exactMatch OMIM:202155 adrenal hypoplasia, cytomegalic type semapv:UnspecifiedMatching -MONDO:0008733 skos:exactMatch omim.ps:202200 Glucocorticoid deficiency semapv:UnspecifiedMatching +MONDO:0008733 skos:exactMatch OMIMPS:202200 Glucocorticoid deficiency semapv:UnspecifiedMatching MONDO:0008734 skos:exactMatch OMIM:202300 adrenocortical carcinoma, hereditary semapv:UnspecifiedMatching MONDO:0008735 skos:exactMatch OMIM:202355 adrenocortical unresponsiveness to acth with postreceptor defect semapv:UnspecifiedMatching MONDO:0008736 skos:exactMatch OMIM:202370 peroxisome biogenesis disorder 2b semapv:UnspecifiedMatching @@ -1789,7 +1789,7 @@ MONDO:0008752 skos:exactMatch OMIM:203450 alexander disease semapv:UnspecifiedM MONDO:0008753 skos:exactMatch OMIM:203500 alkaptonuria semapv:UnspecifiedMatching MONDO:0008754 skos:exactMatch OMIM:203550 intellectual developmental syndrome with alopecia, contractures, and dwarfism semapv:UnspecifiedMatching MONDO:0008755 skos:exactMatch OMIM:203600 alopecia-epilepsy-oligophrenia syndrome of moynahan semapv:UnspecifiedMatching -MONDO:0008756 skos:exactMatch omim.ps:203650 Alopecia-intellectual disability syndrome semapv:UnspecifiedMatching +MONDO:0008756 skos:exactMatch OMIMPS:203650 Alopecia-intellectual disability syndrome semapv:UnspecifiedMatching MONDO:0008757 skos:exactMatch OMIM:203655 alopecia universalis congenita semapv:UnspecifiedMatching MONDO:0008758 skos:exactMatch OMIM:203700 mitochondrial DNA depletion syndrome 4a (alpers type) semapv:UnspecifiedMatching MONDO:0008759 skos:exactMatch OMIM:203740 oxoglutarate dehydrogenase deficiency semapv:UnspecifiedMatching @@ -1851,7 +1851,7 @@ MONDO:0008819 skos:exactMatch OMIM:208060 arteriosclerosis, severe juvenile sem MONDO:0008821 skos:exactMatch OMIM:208081 arthrogryposis, distal, with impaired intellectual development and characteristic facies semapv:UnspecifiedMatching MONDO:0008822 skos:exactMatch OMIM:208085 arthrogryposis, renal dysfunction, and cholestasis 1 semapv:UnspecifiedMatching MONDO:0008823 skos:exactMatch OMIM:208100 arthrogryposis multiplex congenita 2, neurogenic type semapv:UnspecifiedMatching -MONDO:0008824 skos:exactMatch omim.ps:208150 Fetal akinesia deformation sequence semapv:UnspecifiedMatching +MONDO:0008824 skos:exactMatch OMIMPS:208150 Fetal akinesia deformation sequence semapv:UnspecifiedMatching MONDO:0008825 skos:exactMatch OMIM:208155 illum syndrome semapv:UnspecifiedMatching MONDO:0008826 skos:exactMatch OMIM:208158 arthrogryposis with hyperkeratosis semapv:UnspecifiedMatching MONDO:0008827 skos:exactMatch OMIM:208230 progressive pseudorheumatoid dysplasia semapv:UnspecifiedMatching @@ -1880,7 +1880,7 @@ MONDO:0008849 skos:exactMatch OMIM:209700 atrophoderma vermiculata semapv:Unspe MONDO:0008850 skos:exactMatch OMIM:209770 aural atresia, multiple congenital anomalies, and impaired intellectual development semapv:UnspecifiedMatching MONDO:0008853 skos:exactMatch OMIM:209885 barber-say syndrome semapv:UnspecifiedMatching MONDO:0008854 skos:exactMatch OMIM:209900 bardet-biedl syndrome 1 semapv:UnspecifiedMatching -MONDO:0008855 skos:exactMatch omim.ps:209920 MHC class II deficiency semapv:UnspecifiedMatching +MONDO:0008855 skos:exactMatch OMIMPS:209920 MHC class II deficiency semapv:UnspecifiedMatching MONDO:0008856 skos:exactMatch OMIM:209950 immunodeficiency 27a semapv:UnspecifiedMatching MONDO:0008857 skos:exactMatch OMIM:209970 beemer lethal malformation syndrome semapv:UnspecifiedMatching MONDO:0008858 skos:exactMatch OMIM:210000 behr syndrome semapv:UnspecifiedMatching @@ -1888,7 +1888,7 @@ MONDO:0008859 skos:exactMatch OMIM:210050 berry aneurysm, cirrhosis, pulmonary MONDO:0008860 skos:exactMatch OMIM:210100 beta-aminoisobutyric aciduria semapv:UnspecifiedMatching MONDO:0008861 skos:exactMatch OMIM:210200 3-methylcrotonyl-coa carboxylase 1 deficiency semapv:UnspecifiedMatching MONDO:0008862 skos:exactMatch OMIM:210210 3-methylcrotonyl-coa carboxylase 2 deficiency semapv:UnspecifiedMatching -MONDO:0008863 skos:exactMatch omim.ps:210250 Sitosterolemia semapv:UnspecifiedMatching +MONDO:0008863 skos:exactMatch OMIMPS:210250 Sitosterolemia semapv:UnspecifiedMatching MONDO:0008864 skos:exactMatch OMIM:210350 biemond syndrome 2 semapv:UnspecifiedMatching MONDO:0008865 skos:exactMatch OMIM:210370 bietti crystalline corneoretinal dystrophy semapv:UnspecifiedMatching MONDO:0008866 skos:exactMatch OMIM:210400 bifid nose, autosomal recessive semapv:UnspecifiedMatching @@ -1913,7 +1913,7 @@ MONDO:0008886 skos:exactMatch OMIM:211390 sabinas brittle hair syndrome semapv: MONDO:0008887 skos:exactMatch OMIM:211400 bronchiectasis with or without elevated sweat chloride 1 semapv:UnspecifiedMatching MONDO:0008888 skos:exactMatch OMIM:211450 williams-campbell syndrome semapv:UnspecifiedMatching MONDO:0008889 skos:exactMatch OMIM:211480 buerger disease semapv:UnspecifiedMatching -MONDO:0008891 skos:exactMatch omim.ps:211530 Brown-Vialetto-Van Laere syndrome semapv:UnspecifiedMatching +MONDO:0008891 skos:exactMatch OMIMPS:211530 Brown-Vialetto-Van Laere syndrome semapv:UnspecifiedMatching MONDO:0008892 skos:exactMatch OMIM:211600 cholestasis, progressive familial intrahepatic, 1 semapv:UnspecifiedMatching MONDO:0008893 skos:exactMatch OMIM:211750 c syndrome semapv:UnspecifiedMatching MONDO:0008894 skos:exactMatch OMIM:211770 cahmr syndrome semapv:UnspecifiedMatching @@ -1947,7 +1947,7 @@ MONDO:0008922 skos:exactMatch OMIM:212350 sengers syndrome semapv:UnspecifiedMa MONDO:0008923 skos:exactMatch OMIM:212360 palmoplantar keratoderma and congenital alopecia 2 semapv:UnspecifiedMatching MONDO:0008924 skos:exactMatch OMIM:212400 cataract and congenital ichthyosis semapv:UnspecifiedMatching MONDO:0008925 skos:exactMatch OMIM:212500 cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy semapv:UnspecifiedMatching -MONDO:0008926 skos:exactMatch omim.ps:214150 Cerebrooculofacioskeletal syndrome semapv:UnspecifiedMatching +MONDO:0008926 skos:exactMatch OMIMPS:214150 Cerebrooculofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0008927 skos:exactMatch OMIM:212550 optic disc anomalies with retinal and/or macular dystrophy semapv:UnspecifiedMatching MONDO:0008928 skos:exactMatch OMIM:212710 cataract-ataxia-deafness-retardation syndrome semapv:UnspecifiedMatching MONDO:0008930 skos:exactMatch OMIM:212750 celiac disease, susceptibility to, 1 semapv:UnspecifiedMatching @@ -1965,7 +1965,7 @@ MONDO:0008943 skos:exactMatch OMIM:213200 spinocerebellar ataxia, autosomal rec MONDO:0008944 skos:exactMatch OMIM:213300 joubert syndrome 1 semapv:UnspecifiedMatching MONDO:0008945 skos:exactMatch OMIM:213400 dyssynergia cerebellaris myoclonica of hunt semapv:UnspecifiedMatching MONDO:0008946 skos:exactMatch OMIM:213500 cerebral angiopathy, dysphoric semapv:UnspecifiedMatching -MONDO:0008947 skos:exactMatch omim.ps:213600 Basal ganglia calcification, idiopathic semapv:UnspecifiedMatching +MONDO:0008947 skos:exactMatch OMIMPS:213600 Basal ganglia calcification, idiopathic semapv:UnspecifiedMatching MONDO:0008948 skos:exactMatch OMIM:213700 cerebrotendinous xanthomatosis semapv:UnspecifiedMatching MONDO:0008949 skos:exactMatch OMIM:213820 cerebral malformation, seizures, hypertrichosis, and overlapping fingers semapv:UnspecifiedMatching MONDO:0008950 skos:exactMatch OMIM:213900 cerebral sclerosis similar to pelizaeus-merzbacher disease semapv:UnspecifiedMatching @@ -1991,14 +1991,14 @@ MONDO:0008971 skos:exactMatch OMIM:215050 chondrodysplasia calcificans metaphys MONDO:0008972 skos:exactMatch OMIM:215100 rhizomelic chondrodysplasia punctata, type 1 semapv:UnspecifiedMatching MONDO:0008973 skos:exactMatch OMIM:215105 chondrodysplasia punctata syndrome semapv:UnspecifiedMatching MONDO:0008974 skos:exactMatch OMIM:215140 greenberg dysplasia semapv:UnspecifiedMatching -MONDO:0008975 skos:exactMatch omim.ps:184840 Otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0008975 skos:exactMatch OMIMPS:184840 Otospondylomegaepiphyseal dysplasia semapv:UnspecifiedMatching MONDO:0008976 skos:exactMatch OMIM:215250 chondroitin-6-sulfaturia, defective cellular immunity, nephrotic syndrome semapv:UnspecifiedMatching MONDO:0008977 skos:exactMatch OMIM:215300 chondrosarcoma semapv:UnspecifiedMatching MONDO:0008978 skos:exactMatch OMIM:215400 chordoma, susceptibility to semapv:UnspecifiedMatching MONDO:0008979 skos:exactMatch OMIM:215450 chorea, benign familial semapv:UnspecifiedMatching MONDO:0008980 skos:exactMatch OMIM:215470 boucher-neuhauser syndrome semapv:UnspecifiedMatching MONDO:0008981 skos:exactMatch OMIM:215480 choroid plexus calcification and impaired intellectual development semapv:UnspecifiedMatching -MONDO:0008982 skos:exactMatch omim.ps:215500 Choroidal dystrophy, central areolar semapv:UnspecifiedMatching +MONDO:0008982 skos:exactMatch OMIMPS:215500 Choroidal dystrophy, central areolar semapv:UnspecifiedMatching MONDO:0008983 skos:exactMatch OMIM:215510 chromosomal instability with tissue-specific radiosensitivity semapv:UnspecifiedMatching MONDO:0008984 skos:exactMatch OMIM:215518 ciliary discoordination due to random ciliary orientation semapv:UnspecifiedMatching MONDO:0008985 skos:exactMatch OMIM:215520 ciliary dyskinesia with transposition of ciliary microtubules semapv:UnspecifiedMatching @@ -2040,7 +2040,7 @@ MONDO:0009028 skos:exactMatch OMIM:218090 crane-heise syndrome semapv:Unspecifi MONDO:0009029 skos:exactMatch OMIM:218100 cranial nerves, congenital paresis of semapv:UnspecifiedMatching MONDO:0009030 skos:exactMatch OMIM:218200 cranial nerves, recurrent paresis of semapv:UnspecifiedMatching MONDO:0009031 skos:exactMatch OMIM:218300 craniodiaphyseal dysplasia semapv:UnspecifiedMatching -MONDO:0009032 skos:exactMatch omim.ps:218330 Cranioectodermal dysplasia semapv:UnspecifiedMatching +MONDO:0009032 skos:exactMatch OMIMPS:218330 Cranioectodermal dysplasia semapv:UnspecifiedMatching MONDO:0009033 skos:exactMatch OMIM:218340 temtamy syndrome semapv:UnspecifiedMatching MONDO:0009034 skos:exactMatch OMIM:218350 craniofacial dyssynostosis with short stature semapv:UnspecifiedMatching MONDO:0009035 skos:exactMatch OMIM:218400 craniometaphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching @@ -2052,7 +2052,7 @@ MONDO:0009040 skos:exactMatch OMIM:218649 lin-getting syndrome semapv:Unspecifi MONDO:0009041 skos:exactMatch OMIM:218650 craniosynostosis-impaired intellectual development-clefting syndrome semapv:UnspecifiedMatching MONDO:0009042 skos:exactMatch OMIM:218670 craniotelencephalic dysplasia semapv:UnspecifiedMatching MONDO:0009045 skos:exactMatch OMIM:218900 crome syndrome semapv:UnspecifiedMatching -MONDO:0009046 skos:exactMatch omim.ps:219000 Fraser syndrome semapv:UnspecifiedMatching +MONDO:0009046 skos:exactMatch OMIMPS:219000 Fraser syndrome semapv:UnspecifiedMatching MONDO:0009047 skos:exactMatch OMIM:219050 cryptorchidism, unilateral or bilateral semapv:UnspecifiedMatching MONDO:0009048 skos:exactMatch OMIM:219070 curved nail of fourth toe semapv:UnspecifiedMatching MONDO:0009050 skos:exactMatch OMIM:219090 pituitary adenoma 4, acth-secreting semapv:UnspecifiedMatching @@ -2092,7 +2092,7 @@ MONDO:0009088 skos:exactMatch OMIM:221700 deafness, neural, with atypical atopi MONDO:0009089 skos:exactMatch OMIM:221740 deafness-oligodontia syndrome semapv:UnspecifiedMatching MONDO:0009090 skos:exactMatch OMIM:221745 deafness, sensorineural, autosomal-mitochondrial type semapv:UnspecifiedMatching MONDO:0009091 skos:exactMatch OMIM:221750 pituitary hormone deficiency, combined, 3 semapv:UnspecifiedMatching -MONDO:0009092 skos:exactMatch omim.ps:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:UnspecifiedMatching +MONDO:0009092 skos:exactMatch OMIMPS:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly semapv:UnspecifiedMatching MONDO:0009093 skos:exactMatch OMIM:221790 dermatoleukodystrophy semapv:UnspecifiedMatching MONDO:0009094 skos:exactMatch OMIM:221800 dermochondrocorneal dystrophy semapv:UnspecifiedMatching MONDO:0009095 skos:exactMatch OMIM:221810 dermatoosteolysis, kirghizian type semapv:UnspecifiedMatching @@ -2103,7 +2103,7 @@ MONDO:0009101 skos:exactMatch OMIM:222300 wolfram syndrome 1 semapv:Unspecified MONDO:0009102 skos:exactMatch OMIM:222350 diaminopentanuria semapv:UnspecifiedMatching MONDO:0009103 skos:exactMatch OMIM:222400 diaphragmatic hernia 2 semapv:UnspecifiedMatching MONDO:0009104 skos:exactMatch OMIM:222448 donnai-barrow syndrome semapv:UnspecifiedMatching -MONDO:0009105 skos:exactMatch omim.ps:222470 Trichohepatoenteric syndrome semapv:UnspecifiedMatching +MONDO:0009105 skos:exactMatch OMIMPS:222470 Trichohepatoenteric syndrome semapv:UnspecifiedMatching MONDO:0009106 skos:exactMatch OMIM:222500 diastematomyelia semapv:UnspecifiedMatching MONDO:0009107 skos:exactMatch OMIM:222600 diastrophic dysplasia semapv:UnspecifiedMatching MONDO:0009108 skos:exactMatch OMIM:222690 dibasic amino aciduria 1 semapv:UnspecifiedMatching @@ -2130,7 +2130,7 @@ MONDO:0009129 skos:exactMatch OMIM:223550 dwarfism, proportionate, with hip dis MONDO:0009130 skos:exactMatch OMIM:223800 dyggve-melchior-clausen disease semapv:UnspecifiedMatching MONDO:0009131 skos:exactMatch OMIM:223900 neuropathy, hereditary sensory and autonomic, type 3 semapv:UnspecifiedMatching MONDO:0009132 skos:exactMatch OMIM:224000 dysautonomia-like disorder semapv:UnspecifiedMatching -MONDO:0009133 skos:exactMatch omim.ps:224050 Cerebellar ataxia, mental retardation, and dysequilibrium semapv:UnspecifiedMatching +MONDO:0009133 skos:exactMatch OMIMPS:224050 Cerebellar ataxia, mental retardation, and dysequilibrium semapv:UnspecifiedMatching MONDO:0009134 skos:exactMatch OMIM:224100 anemia, congenital dyserythropoietic, type 2 semapv:UnspecifiedMatching MONDO:0009135 skos:exactMatch OMIM:224120 anemia, congenital dyserythropoietic, type ia semapv:UnspecifiedMatching MONDO:0009136 skos:exactMatch OMIM:224230 dyskeratosis congenita, autosomal recessive 1 semapv:UnspecifiedMatching @@ -2237,7 +2237,7 @@ MONDO:0009238 skos:exactMatch OMIM:229050 folate malabsorption, hereditary sema MONDO:0009239 skos:exactMatch OMIM:229070 hypogonadotropic hypogonadism 24 with or without anosmia semapv:UnspecifiedMatching MONDO:0009240 skos:exactMatch OMIM:229100 glutamate formiminotransferase deficiency semapv:UnspecifiedMatching MONDO:0009241 skos:exactMatch OMIM:229120 fountain syndrome semapv:UnspecifiedMatching -MONDO:0009242 skos:exactMatch omim.ps:229200 Brittle cornea syndrome semapv:UnspecifiedMatching +MONDO:0009242 skos:exactMatch OMIMPS:229200 Brittle cornea syndrome semapv:UnspecifiedMatching MONDO:0009243 skos:exactMatch OMIM:229230 fraser-like syndrome semapv:UnspecifiedMatching MONDO:0009244 skos:exactMatch OMIM:229250 freesia flowers, inability to smell semapv:UnspecifiedMatching MONDO:0009246 skos:exactMatch OMIM:229310 friedreich ataxia and congenital glaucoma semapv:UnspecifiedMatching @@ -2252,7 +2252,7 @@ MONDO:0009254 skos:exactMatch OMIM:230000 fucosidosis semapv:UnspecifiedMatchin MONDO:0009255 skos:exactMatch OMIM:230200 galactosemia 2 semapv:UnspecifiedMatching MONDO:0009257 skos:exactMatch OMIM:230350 galactosemia 3 semapv:UnspecifiedMatching MONDO:0009258 skos:exactMatch OMIM:230400 galactosemia 1 semapv:UnspecifiedMatching -MONDO:0009259 skos:exactMatch OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0009259 skos:exactMatch OMIM:230450 anemia, congenital, nonspherocytic hemolytic, 7 semapv:UnspecifiedMatching MONDO:0009260 skos:exactMatch OMIM:230500 gm1-gangliosidosis, type 1 semapv:UnspecifiedMatching MONDO:0009261 skos:exactMatch OMIM:230600 gm1-gangliosidosis, type 2 semapv:UnspecifiedMatching MONDO:0009262 skos:exactMatch OMIM:230650 gm1-gangliosidosis, type 3 semapv:UnspecifiedMatching @@ -2276,7 +2276,7 @@ MONDO:0009280 skos:exactMatch OMIM:231630 monosodium glutamate sensitivity sema MONDO:0009281 skos:exactMatch OMIM:231670 glutaric acidemia 1 semapv:UnspecifiedMatching MONDO:0009282 skos:exactMatch OMIM:231680 multiple acyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0009283 skos:exactMatch OMIM:231690 glutaric aciduria 3 semapv:UnspecifiedMatching -MONDO:0009284 skos:exactMatch OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0009284 skos:exactMatch OMIM:231900 anemia, congenital, nonspherocytic hemolytic, 6 semapv:UnspecifiedMatching MONDO:0009285 skos:exactMatch OMIM:231950 glutathionuria semapv:UnspecifiedMatching MONDO:0009286 skos:exactMatch OMIM:231970 gluteal muscles, absence of semapv:UnspecifiedMatching MONDO:0009287 skos:exactMatch OMIM:232200 glycogen storage disease ia semapv:UnspecifiedMatching @@ -2291,7 +2291,7 @@ MONDO:0009295 skos:exactMatch OMIM:232800 glycogen storage disease 7 semapv:Uns MONDO:0009296 skos:exactMatch OMIM:232900 glycoprotein storage disease semapv:UnspecifiedMatching MONDO:0009297 skos:exactMatch OMIM:233100 renal glucosuria semapv:UnspecifiedMatching MONDO:0009298 skos:exactMatch OMIM:233270 gombo syndrome semapv:UnspecifiedMatching -MONDO:0009299 skos:exactMatch omim.ps:233300 Ovarian dysgenesis semapv:UnspecifiedMatching +MONDO:0009299 skos:exactMatch OMIMPS:233300 Ovarian dysgenesis semapv:UnspecifiedMatching MONDO:0009300 skos:exactMatch OMIM:233400 perrault syndrome 1 semapv:UnspecifiedMatching MONDO:0009301 skos:exactMatch OMIM:233420 46,xy sex reversal 7 semapv:UnspecifiedMatching MONDO:0009303 skos:exactMatch OMIM:233450 goodpasture syndrome semapv:UnspecifiedMatching @@ -2325,7 +2325,7 @@ MONDO:0009336 skos:exactMatch OMIM:235500 hemosiderosis, pulmonary, with defici MONDO:0009337 skos:exactMatch OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 semapv:UnspecifiedMatching MONDO:0009338 skos:exactMatch OMIM:235550 hepatic venoocclusive disease with immunodeficiency semapv:UnspecifiedMatching MONDO:0009339 skos:exactMatch OMIM:235555 bile acid synthesis defect, congenital, 2 semapv:UnspecifiedMatching -MONDO:0009340 skos:exactMatch OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency semapv:UnspecifiedMatching +MONDO:0009340 skos:exactMatch OMIM:235700 anemia, congenital, nonspherocytic hemolytic, 5 semapv:UnspecifiedMatching MONDO:0009341 skos:exactMatch OMIM:235730 mowat-wilson syndrome semapv:UnspecifiedMatching MONDO:0009342 skos:exactMatch OMIM:235740 hirschsprung disease with polydactyly, renal agenesis, and deafness semapv:UnspecifiedMatching MONDO:0009343 skos:exactMatch OMIM:235750 hirschsprung disease with ulnar polydactyly, polysyndactyly of big toes, and ventricular septal defect semapv:UnspecifiedMatching @@ -2485,7 +2485,7 @@ MONDO:0009502 skos:exactMatch OMIM:245348 pyruvate dehydrogenase e2 deficiency MONDO:0009503 skos:exactMatch OMIM:245349 pyruvate dehydrogenase e3-binding protein deficiency semapv:UnspecifiedMatching MONDO:0009504 skos:exactMatch OMIM:245400 mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) semapv:UnspecifiedMatching MONDO:0009505 skos:exactMatch OMIM:245450 d-lactic aciduria with gout semapv:UnspecifiedMatching -MONDO:0009506 skos:exactMatch omim.ps:245480 Specific granule deficiency semapv:UnspecifiedMatching +MONDO:0009506 skos:exactMatch OMIMPS:245480 Specific granule deficiency semapv:UnspecifiedMatching MONDO:0009507 skos:exactMatch OMIM:245550 lambert syndrome semapv:UnspecifiedMatching MONDO:0009508 skos:exactMatch OMIM:245552 lambotte syndrome semapv:UnspecifiedMatching MONDO:0009509 skos:exactMatch OMIM:245570 epilepsy, focal, with speech disorder and with or without impaired intellectual development semapv:UnspecifiedMatching @@ -2541,7 +2541,7 @@ MONDO:0009559 skos:exactMatch OMIM:248400 mandibulofacial dysostosis with impai MONDO:0009560 skos:exactMatch OMIM:248450 manitoba oculotrichoanal syndrome semapv:UnspecifiedMatching MONDO:0009561 skos:exactMatch OMIM:248500 mannosidosis, alpha b, lysosomal semapv:UnspecifiedMatching MONDO:0009562 skos:exactMatch OMIM:248510 mannosidosis, beta a, lysosomal semapv:UnspecifiedMatching -MONDO:0009563 skos:exactMatch omim.ps:248600 Maple syrup urine disease semapv:UnspecifiedMatching +MONDO:0009563 skos:exactMatch OMIMPS:248600 Maple syrup urine disease semapv:UnspecifiedMatching MONDO:0009564 skos:exactMatch OMIM:248700 marden-walker syndrome semapv:UnspecifiedMatching MONDO:0009565 skos:exactMatch OMIM:248760 marfanoid habitus with microcephaly and glomerulonephritis semapv:UnspecifiedMatching MONDO:0009566 skos:exactMatch OMIM:248770 marfanoid impaired intellectual developmental syndrome, autosomal semapv:UnspecifiedMatching @@ -2603,8 +2603,8 @@ MONDO:0009622 skos:exactMatch OMIM:251255 jawad syndrome semapv:UnspecifiedMatc MONDO:0009623 skos:exactMatch OMIM:251260 nijmegen breakage syndrome semapv:UnspecifiedMatching MONDO:0009624 skos:exactMatch OMIM:251270 microcephaly and chorioretinopathy, autosomal recessive, 1 semapv:UnspecifiedMatching MONDO:0009625 skos:exactMatch OMIM:251280 diencephalic-mesencephalic junction dysplasia syndrome 1 semapv:UnspecifiedMatching -MONDO:0009626 skos:exactMatch omim.ps:251290 Pseudo-TORCH syndrome semapv:UnspecifiedMatching -MONDO:0009627 skos:exactMatch omim.ps:251300 Galloway-Mowat syndrome semapv:UnspecifiedMatching +MONDO:0009626 skos:exactMatch OMIMPS:251290 Pseudo-TORCH syndrome semapv:UnspecifiedMatching +MONDO:0009627 skos:exactMatch OMIMPS:251300 Galloway-Mowat syndrome semapv:UnspecifiedMatching MONDO:0009628 skos:exactMatch OMIM:251400 microcolon semapv:UnspecifiedMatching MONDO:0009629 skos:exactMatch OMIM:251450 desbuquois dysplasia 1 semapv:UnspecifiedMatching MONDO:0009630 skos:exactMatch OMIM:251505 microphthalmia/coloboma 4 semapv:UnspecifiedMatching @@ -2656,7 +2656,7 @@ MONDO:0009681 skos:exactMatch OMIM:254090 ullrich congenital muscular dystrophy MONDO:0009682 skos:exactMatch OMIM:254100 muscular dystrophy, congenital, with rapid progression semapv:UnspecifiedMatching MONDO:0009683 skos:exactMatch OMIM:254110 muscular dystrophy, limb-girdle, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0009684 skos:exactMatch OMIM:254120 muscular hypertonia, lethal semapv:UnspecifiedMatching -MONDO:0009685 skos:exactMatch omim.ps:254130 Miyoshi muscular dystrophy semapv:UnspecifiedMatching +MONDO:0009685 skos:exactMatch OMIMPS:254130 Miyoshi muscular dystrophy semapv:UnspecifiedMatching MONDO:0009686 skos:exactMatch OMIM:254150 musk, inability to smell semapv:UnspecifiedMatching MONDO:0009687 skos:exactMatch OMIM:254190 myasthenia, congenital, refractory to acetylcholinesterase inhibitors semapv:UnspecifiedMatching MONDO:0009688 skos:exactMatch OMIM:254200 myasthenia gravis semapv:UnspecifiedMatching @@ -2668,8 +2668,8 @@ MONDO:0009693 skos:exactMatch OMIM:254500 myeloma, multiple semapv:UnspecifiedM MONDO:0009694 skos:exactMatch OMIM:254600 myeloperoxidase deficiency semapv:UnspecifiedMatching MONDO:0009695 skos:exactMatch OMIM:254700 myeloproliferative disease, autosomal recessive semapv:UnspecifiedMatching MONDO:0009696 skos:exactMatch OMIM:254770 epilepsy, myoclonic juvenile semapv:UnspecifiedMatching -MONDO:0009696 skos:exactMatch omim.ps:254770 Epilepsy, myoclonic juvenile semapv:UnspecifiedMatching -MONDO:0009697 skos:exactMatch omim.ps:254780 Myoclonic epilepsy of Lafora semapv:UnspecifiedMatching +MONDO:0009696 skos:exactMatch OMIMPS:254770 Epilepsy, myoclonic juvenile semapv:UnspecifiedMatching +MONDO:0009697 skos:exactMatch OMIMPS:254780 Myoclonic epilepsy of Lafora semapv:UnspecifiedMatching MONDO:0009698 skos:exactMatch OMIM:254800 myoclonic epilepsy of unverricht and lundborg semapv:UnspecifiedMatching MONDO:0009699 skos:exactMatch OMIM:254900 epilepsy, progressive myoclonic, 4, with or without renal failure semapv:UnspecifiedMatching MONDO:0009701 skos:exactMatch OMIM:254950 myopathy, granulovacuolar lobular, with electrical myotonia semapv:UnspecifiedMatching @@ -2694,7 +2694,7 @@ MONDO:0009722 skos:exactMatch OMIM:255995 congenital myopathy 13 semapv:Unspeci MONDO:0009723 skos:exactMatch OMIM:256000 leigh syndrome, nuclear semapv:UnspecifiedMatching MONDO:0009724 skos:exactMatch OMIM:256020 focal segmental glomerulosclerosis 10 semapv:UnspecifiedMatching MONDO:0009725 skos:exactMatch OMIM:256030 nemaline myopathy 2 semapv:UnspecifiedMatching -MONDO:0009726 skos:exactMatch omim.ps:256040 Proteosome-associated autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0009726 skos:exactMatch OMIMPS:256040 Proteosome-associated autoinflammatory syndrome semapv:UnspecifiedMatching MONDO:0009727 skos:exactMatch OMIM:256050 atelosteogenesis, type 2 semapv:UnspecifiedMatching MONDO:0009728 skos:exactMatch OMIM:256100 nephronophthisis 1 semapv:UnspecifiedMatching MONDO:0009729 skos:exactMatch OMIM:256120 nephropathy, deafness, and hyperparathyroidism semapv:UnspecifiedMatching @@ -2776,7 +2776,7 @@ MONDO:0009808 skos:exactMatch OMIM:259550 osteoid osteoma semapv:UnspecifiedMat MONDO:0009809 skos:exactMatch OMIM:259600 multicentric osteolysis, nodulosis, and arthropathy semapv:UnspecifiedMatching MONDO:0009810 skos:exactMatch OMIM:259610 osteolysis syndrome, recessive semapv:UnspecifiedMatching MONDO:0009811 skos:exactMatch OMIM:259650 osteoma of middle ear semapv:UnspecifiedMatching -MONDO:0009813 skos:exactMatch omim.ps:609628 Chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching +MONDO:0009813 skos:exactMatch OMIMPS:609628 Chronic recurrent multifocal osteomyelitis semapv:UnspecifiedMatching MONDO:0009814 skos:exactMatch OMIM:259690 osteopenia and sparse hair semapv:UnspecifiedMatching MONDO:0009815 skos:exactMatch OMIM:259700 osteopetrosis, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0009816 skos:exactMatch OMIM:259710 osteopetrosis, autosomal recessive 2 semapv:UnspecifiedMatching @@ -2793,8 +2793,8 @@ MONDO:0009827 skos:exactMatch OMIM:260130 pachyonychia congenita, autosomal rec MONDO:0009828 skos:exactMatch OMIM:260150 palant cleft palate syndrome semapv:UnspecifiedMatching MONDO:0009829 skos:exactMatch OMIM:260200 pallidal degeneration, progressive, with retinitis pigmentosa semapv:UnspecifiedMatching MONDO:0009830 skos:exactMatch OMIM:260300 parkinson disease 15, autosomal recessive early-onset semapv:UnspecifiedMatching -MONDO:0009832 skos:exactMatch omim.ps:260370 Pancreatic agenesis semapv:UnspecifiedMatching -MONDO:0009833 skos:exactMatch omim.ps:260400 Schwachman-Diamond syndrome semapv:UnspecifiedMatching +MONDO:0009832 skos:exactMatch OMIMPS:260370 Pancreatic agenesis semapv:UnspecifiedMatching +MONDO:0009833 skos:exactMatch OMIMPS:260400 Schwachman-Diamond syndrome semapv:UnspecifiedMatching MONDO:0009835 skos:exactMatch OMIM:260470 subacute sclerosing panencephalitis semapv:UnspecifiedMatching MONDO:0009836 skos:exactMatch OMIM:260480 pancreatitis, sclerosing cholangitis, and sicca complex semapv:UnspecifiedMatching MONDO:0009837 skos:exactMatch OMIM:260500 papilloma of choroid plexus semapv:UnspecifiedMatching @@ -2813,7 +2813,7 @@ MONDO:0009849 skos:exactMatch OMIM:260920 hyper-igd syndrome semapv:Unspecified MONDO:0009850 skos:exactMatch OMIM:260950 periodontitis, chronic semapv:UnspecifiedMatching MONDO:0009851 skos:exactMatch OMIM:260970 peripheral neuropathy, ataxia, focal necrotizing encephalopathy, and spongy degeneration of brain semapv:UnspecifiedMatching MONDO:0009852 skos:exactMatch OMIM:261000 intrinsic factor deficiency semapv:UnspecifiedMatching -MONDO:0009853 skos:exactMatch omim.ps:261100 Imerslund-Grasbeck syndrome semapv:UnspecifiedMatching +MONDO:0009853 skos:exactMatch OMIMPS:261100 Imerslund-Grasbeck syndrome semapv:UnspecifiedMatching MONDO:0009854 skos:exactMatch OMIM:261400 peroneus tertius muscle, absence of semapv:UnspecifiedMatching MONDO:0009855 skos:exactMatch OMIM:261515 d-bifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0009856 skos:exactMatch OMIM:261540 peters-plus syndrome semapv:UnspecifiedMatching @@ -2895,7 +2895,7 @@ MONDO:0009933 skos:exactMatch OMIM:265300 lymphangiectasia, pulmonary, congenit MONDO:0009934 skos:exactMatch OMIM:265380 alveolar capillary dysplasia with misalignment of pulmonary veins semapv:UnspecifiedMatching MONDO:0009935 skos:exactMatch OMIM:265400 pulmonary hypertension, primary, 5 semapv:UnspecifiedMatching MONDO:0009936 skos:exactMatch OMIM:265430 pulmonary hypoplasia, primary semapv:UnspecifiedMatching -MONDO:0009937 skos:exactMatch omim.ps:265450 Pulmonary venoocclusive disease semapv:UnspecifiedMatching +MONDO:0009937 skos:exactMatch OMIMPS:265450 Pulmonary venoocclusive disease semapv:UnspecifiedMatching MONDO:0009938 skos:exactMatch OMIM:265500 pulmonic stenosis semapv:UnspecifiedMatching MONDO:0009939 skos:exactMatch OMIM:265600 pulmonic stenosis and congenital nephrosis semapv:UnspecifiedMatching MONDO:0009940 skos:exactMatch OMIM:265800 pycnodysostosis semapv:UnspecifiedMatching @@ -2903,11 +2903,11 @@ MONDO:0009941 skos:exactMatch OMIM:265850 pygmy semapv:UnspecifiedMatching MONDO:0009942 skos:exactMatch OMIM:265880 pyknoachondrogenesis semapv:UnspecifiedMatching MONDO:0009943 skos:exactMatch OMIM:265900 pyle disease semapv:UnspecifiedMatching MONDO:0009944 skos:exactMatch OMIM:265950 pyloric atresia semapv:UnspecifiedMatching -MONDO:0009946 skos:exactMatch OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0009946 skos:exactMatch OMIM:266120 anemia, congenital, nonspherocytic hemolytic, 8 semapv:UnspecifiedMatching MONDO:0009947 skos:exactMatch OMIM:266130 glutathione synthetase deficiency semapv:UnspecifiedMatching MONDO:0009948 skos:exactMatch OMIM:266140 pyropoikilocytosis, hereditary semapv:UnspecifiedMatching MONDO:0009949 skos:exactMatch OMIM:266150 pyruvate carboxylase deficiency semapv:UnspecifiedMatching -MONDO:0009950 skos:exactMatch OMIM:266200 pyruvate kinase deficiency of red cells semapv:UnspecifiedMatching +MONDO:0009950 skos:exactMatch OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 semapv:UnspecifiedMatching MONDO:0009951 skos:exactMatch OMIM:266250 radiculoneuropathy, fatal neonatal semapv:UnspecifiedMatching MONDO:0009952 skos:exactMatch OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia semapv:UnspecifiedMatching MONDO:0009953 skos:exactMatch OMIM:266265 congenital disorder of glycosylation, type iic semapv:UnspecifiedMatching @@ -2954,7 +2954,7 @@ MONDO:0009998 skos:exactMatch OMIM:268305 robin sequence with cleft mandible an MONDO:0009999 skos:exactMatch OMIM:268310 robinow syndrome, autosomal recessive 1 semapv:UnspecifiedMatching MONDO:0010000 skos:exactMatch OMIM:268315 rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction semapv:UnspecifiedMatching MONDO:0010001 skos:exactMatch OMIM:268320 rodrigues blindness semapv:UnspecifiedMatching -MONDO:0010002 skos:exactMatch omim.ps:268400 Rothmund-Thomson syndrome semapv:UnspecifiedMatching +MONDO:0010002 skos:exactMatch OMIMPS:268400 Rothmund-Thomson syndrome semapv:UnspecifiedMatching MONDO:0010003 skos:exactMatch OMIM:268500 rowley-rosenberg syndrome semapv:UnspecifiedMatching MONDO:0010004 skos:exactMatch OMIM:268650 rudiger syndrome semapv:UnspecifiedMatching MONDO:0010005 skos:exactMatch OMIM:268700 saccharopinuria semapv:UnspecifiedMatching @@ -3056,7 +3056,7 @@ MONDO:0010105 skos:exactMatch OMIM:273120 teratoma, pineal semapv:UnspecifiedMa MONDO:0010106 skos:exactMatch OMIM:273150 testes, rudimentary semapv:UnspecifiedMatching MONDO:0010108 skos:exactMatch OMIM:273300 testicular germ cell tumor semapv:UnspecifiedMatching MONDO:0010109 skos:exactMatch OMIM:273390 tetraamelia with ectodermal dysplasia and lacrimal duct abnormalities semapv:UnspecifiedMatching -MONDO:0010110 skos:exactMatch omim.ps:273395 Tetraamelia syndrome semapv:UnspecifiedMatching +MONDO:0010110 skos:exactMatch OMIMPS:273395 Tetraamelia syndrome semapv:UnspecifiedMatching MONDO:0010111 skos:exactMatch OMIM:273400 tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities semapv:UnspecifiedMatching MONDO:0010112 skos:exactMatch OMIM:273490 thalamic degeneration, symmetric infantile semapv:UnspecifiedMatching MONDO:0010113 skos:exactMatch OMIM:273600 thalidomide susceptibility semapv:UnspecifiedMatching @@ -3077,7 +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:0010132 skos:exactMatch OMIMPS: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 @@ -3225,7 +3225,7 @@ MONDO:0010289 skos:exactMatch OMIM:300271 intellectual developmental disorder, MONDO:0010290 skos:exactMatch OMIM:300273 goiter, multinodular 2 semapv:UnspecifiedMatching MONDO:0010291 skos:exactMatch OMIM:300274 semapv:UnspecifiedMatching MONDO:0010292 skos:exactMatch OMIM:300280 uruguay faciocardiomusculoskeletal syndrome semapv:UnspecifiedMatching -MONDO:0010293 skos:exactMatch omim.ps:300291 Ectodermal dysplasia and immune deficiency semapv:UnspecifiedMatching +MONDO:0010293 skos:exactMatch OMIMPS:300291 Ectodermal dysplasia and immune deficiency semapv:UnspecifiedMatching MONDO:0010294 skos:exactMatch OMIM:300299 neutropenia, severe congenital, X-linked semapv:UnspecifiedMatching MONDO:0010296 skos:exactMatch OMIM:300310 immunodeficiency 61 semapv:UnspecifiedMatching MONDO:0010297 skos:exactMatch OMIM:300321 fg syndrome 2 semapv:UnspecifiedMatching @@ -3401,7 +3401,7 @@ MONDO:0010476 skos:exactMatch OMIM:300894 neurodegeneration with brain iron acc MONDO:0010477 skos:exactMatch OMIM:300895 ohdo syndrome, X-linked semapv:UnspecifiedMatching MONDO:0010478 skos:exactMatch OMIM:300896 congenital disorder of glycosylation, type iim semapv:UnspecifiedMatching MONDO:0010479 skos:exactMatch OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 semapv:UnspecifiedMatching -MONDO:0010480 skos:exactMatch OMIM:300908 anemia, nonspherocytic hemolytic, due to g6pd deficiency semapv:UnspecifiedMatching +MONDO:0010480 skos:exactMatch OMIM:300908 anemia, congenital, nonspherocytic hemolytic, 1 semapv:UnspecifiedMatching MONDO:0010482 skos:exactMatch OMIM:300911 parkinsonism with spasticity, X-linked semapv:UnspecifiedMatching MONDO:0010483 skos:exactMatch OMIM:300912 intellectual developmental disorder, X-linked 98 semapv:UnspecifiedMatching MONDO:0010484 skos:exactMatch OMIM:300914 deafness, X-linked 6 semapv:UnspecifiedMatching @@ -3416,7 +3416,7 @@ MONDO:0010492 skos:exactMatch OMIM:300943 pituitary adenoma 2, growth hormone-s MONDO:0010493 skos:exactMatch OMIM:300946 diamond-blackfan anemia 14 with mandibulofacial dysostosis semapv:UnspecifiedMatching MONDO:0010494 skos:exactMatch OMIM:300952 linear skin defects with multiple congenital anomalies 3 semapv:UnspecifiedMatching MONDO:0010495 skos:exactMatch OMIM:300953 trichothiodystrophy 5, nonphotosensitive semapv:UnspecifiedMatching -MONDO:0010496 skos:exactMatch OMIM:300957 intellectual developmental disorder, X-linked 12 semapv:UnspecifiedMatching +MONDO:0010496 skos:exactMatch OMIM:300957 intellectual developmental disorder, x-linked, syndromic, kumar type semapv:UnspecifiedMatching MONDO:0010497 skos:exactMatch OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok type semapv:UnspecifiedMatching MONDO:0010498 skos:exactMatch OMIM:300960 mend syndrome semapv:UnspecifiedMatching MONDO:0010499 skos:exactMatch OMIM:300963 ritscher-schinzel syndrome 2 semapv:UnspecifiedMatching @@ -3581,7 +3581,7 @@ MONDO:0010668 skos:exactMatch OMIM:309620 christian syndrome semapv:Unspecified MONDO:0010669 skos:exactMatch OMIM:309630 metacarpal 4-5 fusion semapv:UnspecifiedMatching MONDO:0010670 skos:exactMatch OMIM:309640 mental retardation with spastic paraplegia semapv:UnspecifiedMatching MONDO:0010671 skos:exactMatch OMIM:309800 microphthalmia, syndromic 1 semapv:UnspecifiedMatching -MONDO:0010672 skos:exactMatch omim.ps:309801 Linear skin defects with multiple congenital anomalies semapv:UnspecifiedMatching +MONDO:0010672 skos:exactMatch OMIMPS:309801 Linear skin defects with multiple congenital anomalies semapv:UnspecifiedMatching MONDO:0010673 skos:exactMatch OMIM:309840 modifier, x-linked, for neurofunctional defects semapv:UnspecifiedMatching MONDO:0010674 skos:exactMatch OMIM:309900 mucopolysaccharidosis, type 2 semapv:UnspecifiedMatching MONDO:0010675 skos:exactMatch OMIM:309930 muscular dystrophy, cardiac type semapv:UnspecifiedMatching @@ -3669,7 +3669,7 @@ MONDO:0010761 skos:exactMatch OMIM:400004 retinitis pigmentosa, Y-linked semapv MONDO:0010762 skos:exactMatch OMIM:400021 lymphoma, hodgkin, Y-linked pseudoautosomal semapv:UnspecifiedMatching MONDO:0010763 skos:exactMatch OMIM:400042 spermatogenic failure, y-linked, 1 semapv:UnspecifiedMatching MONDO:0010764 skos:exactMatch OMIM:400043 deafness, Y-linked 1 semapv:UnspecifiedMatching -MONDO:0010765 skos:exactMatch omim.ps:400044 46,XY sex reversal semapv:UnspecifiedMatching +MONDO:0010765 skos:exactMatch OMIMPS:400044 46,XY sex reversal semapv:UnspecifiedMatching MONDO:0010767 skos:exactMatch OMIM:415000 spermatogenic failure, y-linked, 2 semapv:UnspecifiedMatching MONDO:0010769 skos:exactMatch OMIM:425500 hairy ears, Y-linked semapv:UnspecifiedMatching MONDO:0010770 skos:exactMatch OMIM:489000 ubiquitin-activating enzyme, Y-linked semapv:UnspecifiedMatching @@ -3726,7 +3726,7 @@ MONDO:0010822 skos:exactMatch OMIM:600118 warburg micro syndrome 1 semapv:Unspe MONDO:0010823 skos:exactMatch OMIM:600121 rhizomelic chondrodysplasia punctata, type 3 semapv:UnspecifiedMatching MONDO:0010824 skos:exactMatch OMIM:600122 verloes syndrome semapv:UnspecifiedMatching MONDO:0010825 skos:exactMatch OMIM:600123 atrioventricular septal defect with blepharophimosis and anal and radial defects semapv:UnspecifiedMatching -MONDO:0010826 skos:exactMatch omim.ps:600131 Epilepsy, childhood absence semapv:UnspecifiedMatching +MONDO:0010826 skos:exactMatch OMIMPS:600131 Epilepsy, childhood absence semapv:UnspecifiedMatching MONDO:0010827 skos:exactMatch OMIM:600132 retinitis pigmentosa 14 semapv:UnspecifiedMatching MONDO:0010828 skos:exactMatch OMIM:600138 retinitis pigmentosa 11 semapv:UnspecifiedMatching MONDO:0010829 skos:exactMatch OMIM:600142 cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy semapv:UnspecifiedMatching @@ -3818,7 +3818,7 @@ MONDO:0010920 skos:exactMatch OMIM:600674 microtia-anotia semapv:UnspecifiedMat MONDO:0010921 skos:exactMatch OMIM:600679 dermoid cysts, familial frontonasal semapv:UnspecifiedMatching MONDO:0010922 skos:exactMatch OMIM:600705 satoyoshi syndrome semapv:UnspecifiedMatching MONDO:0010923 skos:exactMatch OMIM:600706 proximal myopathy with focal depletion of mitochondria semapv:UnspecifiedMatching -MONDO:0010924 skos:exactMatch omim.ps:600721 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching +MONDO:0010924 skos:exactMatch OMIMPS:600721 D-2-hydroxyglutaric aciduria semapv:UnspecifiedMatching MONDO:0010925 skos:exactMatch OMIM:600736 velofacioskeletal syndrome semapv:UnspecifiedMatching MONDO:0010926 skos:exactMatch OMIM:600740 hypocalciuric hypercalcemia, familial, type 3 semapv:UnspecifiedMatching MONDO:0010927 skos:exactMatch OMIM:600757 orofacial cleft 3 semapv:UnspecifiedMatching @@ -3913,7 +3913,7 @@ MONDO:0011019 skos:exactMatch OMIM:601217 alopecia-impaired intellectual develo MONDO:0011020 skos:exactMatch OMIM:601220 osteoporosis and oculocutaneous hypopigmentation syndrome semapv:UnspecifiedMatching MONDO:0011021 skos:exactMatch OMIM:601223 neuronal intestinal dysplasia, type B semapv:UnspecifiedMatching MONDO:0011022 skos:exactMatch OMIM:601224 potocki-shaffer syndrome semapv:UnspecifiedMatching -MONDO:0011023 skos:exactMatch omim.ps:601228 Polyposis syndrome, hereditary mixed semapv:UnspecifiedMatching +MONDO:0011023 skos:exactMatch OMIMPS:601228 Polyposis syndrome, hereditary mixed semapv:UnspecifiedMatching MONDO:0011024 skos:exactMatch OMIM:601230 dermatitis herpetiformis, familial semapv:UnspecifiedMatching MONDO:0011025 skos:exactMatch OMIM:601238 cerebellar ataxia, cayman type semapv:UnspecifiedMatching MONDO:0011026 skos:exactMatch OMIM:601277 ichthyosis, congenital, autosomal recessive 4a semapv:UnspecifiedMatching @@ -3978,7 +3978,7 @@ MONDO:0011086 skos:exactMatch OMIM:601457 severe combined immunodeficiency, aut MONDO:0011087 skos:exactMatch OMIM:601458 inflammatory bowel disease 2 semapv:UnspecifiedMatching MONDO:0011088 skos:exactMatch OMIM:601462 myasthenic syndrome, congenital, 1a, slow-channel semapv:UnspecifiedMatching MONDO:0011089 skos:exactMatch OMIM:601466 patent ductus venosus semapv:UnspecifiedMatching -MONDO:0011090 skos:exactMatch omim.ps:601471 Facial paresis, hereditary congenital semapv:UnspecifiedMatching +MONDO:0011090 skos:exactMatch OMIMPS:601471 Facial paresis, hereditary congenital semapv:UnspecifiedMatching MONDO:0011091 skos:exactMatch OMIM:601472 charcot-marie-tooth disease, axonal, type 2d semapv:UnspecifiedMatching MONDO:0011092 skos:exactMatch OMIM:601477 ribbing disease semapv:UnspecifiedMatching MONDO:0011093 skos:exactMatch OMIM:601492 mucopolysaccharidosis, type 9 semapv:UnspecifiedMatching @@ -4317,7 +4317,7 @@ MONDO:0011453 skos:exactMatch OMIM:604380 ulnar ray dysgenesis with postaxial p MONDO:0011454 skos:exactMatch OMIM:604381 patent ductus arteriosus and bicuspid aortic valve with hand anomalies semapv:UnspecifiedMatching MONDO:0011455 skos:exactMatch OMIM:604382 lissencephaly, familial, with cleft palate and cerebellar hypoplasia semapv:UnspecifiedMatching MONDO:0011456 skos:exactMatch OMIM:604387 nephronophthisis 3 semapv:UnspecifiedMatching -MONDO:0011457 skos:exactMatch omim.ps:604391 Ataxia-telangiectasia-like disorder semapv:UnspecifiedMatching +MONDO:0011457 skos:exactMatch OMIMPS:604391 Ataxia-telangiectasia-like disorder semapv:UnspecifiedMatching MONDO:0011458 skos:exactMatch OMIM:604393 leber congenital amaurosis 4 semapv:UnspecifiedMatching MONDO:0011459 skos:exactMatch OMIM:604400 arrhythmogenic right ventricular dysplasia, familial, 5 semapv:UnspecifiedMatching MONDO:0011460 skos:exactMatch OMIM:604401 arrhythmogenic right ventricular dysplasia, familial, 6 semapv:UnspecifiedMatching @@ -4335,7 +4335,7 @@ MONDO:0011472 skos:exactMatch OMIM:604536 ectodermal dysplasia/skin fragility s MONDO:0011473 skos:exactMatch OMIM:604537 leber congenital amaurosis 5 semapv:UnspecifiedMatching MONDO:0011474 skos:exactMatch OMIM:604559 progressive familial heart block, type 1b semapv:UnspecifiedMatching MONDO:0011475 skos:exactMatch OMIM:604563 charcot-marie-tooth disease, demyelinating, type 4b2 semapv:UnspecifiedMatching -MONDO:0011476 skos:exactMatch omim.ps:604571 MHC class I deficiency semapv:UnspecifiedMatching +MONDO:0011476 skos:exactMatch OMIMPS:604571 MHC class I deficiency semapv:UnspecifiedMatching MONDO:0011477 skos:exactMatch OMIM:604625 tooth agenesis, selective, 3 semapv:UnspecifiedMatching MONDO:0011478 skos:exactMatch OMIM:604690 growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia semapv:UnspecifiedMatching MONDO:0011479 skos:exactMatch OMIM:604715 orthostatic intolerance semapv:UnspecifiedMatching @@ -4410,7 +4410,7 @@ MONDO:0011551 skos:exactMatch OMIM:605407 segawa syndrome, autosomal recessive MONDO:0011552 skos:exactMatch OMIM:605419 schizophrenia 10 semapv:UnspecifiedMatching MONDO:0011553 skos:exactMatch OMIM:605428 deafness, autosomal recessive 26 semapv:UnspecifiedMatching MONDO:0011554 skos:exactMatch OMIM:605429 deafness, autosomal recessive 26, modifier of semapv:UnspecifiedMatching -MONDO:0011555 skos:exactMatch omim.ps:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia semapv:UnspecifiedMatching +MONDO:0011555 skos:exactMatch OMIMPS:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia semapv:UnspecifiedMatching MONDO:0011556 skos:exactMatch OMIM:605462 basal cell carcinoma, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011557 skos:exactMatch OMIM:605463 radiation sensitivity/chromosome instability syndrome, autosomal dominant semapv:UnspecifiedMatching MONDO:0011558 skos:exactMatch OMIM:605472 usher syndrome, type 2c semapv:UnspecifiedMatching @@ -4467,7 +4467,7 @@ MONDO:0011608 skos:exactMatch OMIM:605844 dermatitis, atopic, 5 semapv:Unspecif MONDO:0011609 skos:exactMatch OMIM:605845 dermatitis, atopic, 6 semapv:UnspecifiedMatching MONDO:0011610 skos:exactMatch OMIM:605850 dimethylglycine dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0011611 skos:exactMatch OMIM:605856 short stature, impaired intellectual development, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting semapv:UnspecifiedMatching -MONDO:0011612 skos:exactMatch omim.ps:605899 Glycine encephalopathy semapv:UnspecifiedMatching +MONDO:0011612 skos:exactMatch OMIMPS:605899 Glycine encephalopathy semapv:UnspecifiedMatching MONDO:0011613 skos:exactMatch OMIM:605909 parkinson disease 6, autosomal recessive early-onset semapv:UnspecifiedMatching MONDO:0011614 skos:exactMatch OMIM:605911 3-hydroxy-3-methylglutaryl-coa synthase-2 deficiency semapv:UnspecifiedMatching MONDO:0011615 skos:exactMatch OMIM:605913 bleeding disorder, east texas type semapv:UnspecifiedMatching @@ -4616,7 +4616,7 @@ MONDO:0011768 skos:exactMatch OMIM:607085 myasthenia gravis with thymus hyperpl MONDO:0011770 skos:exactMatch OMIM:607087 aortic aneurysm, familial thoracic 2 semapv:UnspecifiedMatching MONDO:0011771 skos:exactMatch OMIM:607088 neuronopathy, distal hereditary motor, autosomal recessive 3 semapv:UnspecifiedMatching MONDO:0011772 skos:exactMatch OMIM:607091 congenital disorder of glycosylation, type iid semapv:UnspecifiedMatching -MONDO:0011773 skos:exactMatch omim.ps:607095 Anauxetic dysplasia semapv:UnspecifiedMatching +MONDO:0011773 skos:exactMatch OMIMPS:607095 Anauxetic dysplasia semapv:UnspecifiedMatching MONDO:0011774 skos:exactMatch OMIM:607101 deafness, autosomal recessive 30 semapv:UnspecifiedMatching MONDO:0011775 skos:exactMatch OMIM:607107 nasopharyngeal carcinoma semapv:UnspecifiedMatching MONDO:0011776 skos:exactMatch OMIM:607115 cinca syndrome semapv:UnspecifiedMatching @@ -4649,7 +4649,7 @@ MONDO:0011806 skos:exactMatch OMIM:607278 osteofibrous dysplasia, susceptibilit MONDO:0011807 skos:exactMatch OMIM:607279 systemic lupus erythematosus with hemolytic anemia, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0011808 skos:exactMatch OMIM:607304 cataract 27 semapv:UnspecifiedMatching MONDO:0011809 skos:exactMatch OMIM:607308 mammographic density semapv:UnspecifiedMatching -MONDO:0011810 skos:exactMatch omim.ps:607313 Gaze palsy, familial horizontal, with progressive scoliosis semapv:UnspecifiedMatching +MONDO:0011810 skos:exactMatch OMIMPS:607313 Gaze palsy, familial horizontal, with progressive scoliosis semapv:UnspecifiedMatching MONDO:0011811 skos:exactMatch OMIM:607317 spinocerebellar ataxia, autosomal recessive 4 semapv:UnspecifiedMatching MONDO:0011812 skos:exactMatch OMIM:607323 duane-radial ray syndrome semapv:UnspecifiedMatching MONDO:0011813 skos:exactMatch OMIM:607324 polydactyly, postaxial, type a3 semapv:UnspecifiedMatching @@ -4666,7 +4666,7 @@ MONDO:0011823 skos:exactMatch OMIM:607371 dystonia-deafness syndrome 1 semapv:U MONDO:0011824 skos:exactMatch OMIM:607373 autism, susceptibility to, 8 semapv:UnspecifiedMatching MONDO:0011825 skos:exactMatch OMIM:607395 streptococcus, group a, severity of infection by semapv:UnspecifiedMatching MONDO:0011826 skos:exactMatch OMIM:607398 glucocorticoid deficiency 2 semapv:UnspecifiedMatching -MONDO:0011827 skos:exactMatch omim.ps:607411 Patent ductus arteriosus semapv:UnspecifiedMatching +MONDO:0011827 skos:exactMatch OMIMPS:607411 Patent ductus arteriosus semapv:UnspecifiedMatching MONDO:0011828 skos:exactMatch OMIM:607417 intellectual developmental disorder, autosomal recessive 2 semapv:UnspecifiedMatching MONDO:0011829 skos:exactMatch OMIM:607426 coenzyme Q10 deficiency, primary, 1 semapv:UnspecifiedMatching MONDO:0011830 skos:exactMatch OMIM:607432 lissencephaly 1 semapv:UnspecifiedMatching @@ -4706,7 +4706,7 @@ MONDO:0011866 skos:exactMatch OMIM:607596 pontocerebellar hypoplasia, type 1a s MONDO:0011867 skos:exactMatch OMIM:607597 microphthalmia with cyst, bilateral facial clefts, and limb anomalies semapv:UnspecifiedMatching MONDO:0011868 skos:exactMatch OMIM:607598 lethal congenital contracture syndrome 2 semapv:UnspecifiedMatching MONDO:0011869 skos:exactMatch OMIM:607600 epidermolysis bullosa simplex superficialis semapv:UnspecifiedMatching -MONDO:0011870 skos:exactMatch omim.ps:607602 Ichthyosis, annular epidermolytic semapv:UnspecifiedMatching +MONDO:0011870 skos:exactMatch OMIMPS:607602 Ichthyosis, annular epidermolytic semapv:UnspecifiedMatching MONDO:0011871 skos:exactMatch OMIM:607616 niemann-pick disease, type B semapv:UnspecifiedMatching MONDO:0011872 skos:exactMatch OMIM:607624 griscelli syndrome, type 2 semapv:UnspecifiedMatching MONDO:0011873 skos:exactMatch OMIM:607625 niemann-pick disease, type c2 semapv:UnspecifiedMatching @@ -4731,7 +4731,7 @@ MONDO:0011895 skos:exactMatch OMIM:607685 hypereosinophilic syndrome, idiopathi MONDO:0011896 skos:exactMatch OMIM:607688 parkinson disease 11, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0011897 skos:exactMatch OMIM:607694 leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism semapv:UnspecifiedMatching MONDO:0011898 skos:exactMatch OMIM:607706 charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive semapv:UnspecifiedMatching -MONDO:0011899 skos:exactMatch omim.ps:607721 Noonan syndrome-like disorder with loose anagen hair semapv:UnspecifiedMatching +MONDO:0011899 skos:exactMatch OMIMPS:607721 Noonan syndrome-like disorder with loose anagen hair semapv:UnspecifiedMatching MONDO:0011900 skos:exactMatch OMIM:607728 porokeratosis 4, disseminated superficial actinic type semapv:UnspecifiedMatching MONDO:0011901 skos:exactMatch OMIM:607731 charcot-marie-tooth disease, axonal, type 2h semapv:UnspecifiedMatching MONDO:0011902 skos:exactMatch OMIM:607734 charcot-marie-tooth disease, demyelinating, type 1f semapv:UnspecifiedMatching @@ -4843,7 +4843,7 @@ MONDO:0012012 skos:exactMatch OMIM:608323 charcot-marie-tooth disease, dominant MONDO:0012013 skos:exactMatch OMIM:608328 weill-marchesani syndrome 2 semapv:UnspecifiedMatching MONDO:0012014 skos:exactMatch OMIM:608340 charcot-marie-tooth disease, recessive intermediate a semapv:UnspecifiedMatching MONDO:0012015 skos:exactMatch OMIM:608345 nystagmus 3, congenital, autosomal dominant semapv:UnspecifiedMatching -MONDO:0012016 skos:exactMatch omim.ps:608354 Capillary malformation-arteriovenous malformation semapv:UnspecifiedMatching +MONDO:0012016 skos:exactMatch OMIMPS:608354 Capillary malformation-arteriovenous malformation semapv:UnspecifiedMatching MONDO:0012019 skos:exactMatch OMIM:608361 spondyloepiphyseal dysplasia, kimberley type semapv:UnspecifiedMatching MONDO:0012020 skos:exactMatch OMIM:608363 chromosome 22q11.2 duplication syndrome semapv:UnspecifiedMatching MONDO:0012021 skos:exactMatch OMIM:608367 myopia 17, autosomal dominant semapv:UnspecifiedMatching @@ -4857,7 +4857,7 @@ MONDO:0012029 skos:exactMatch OMIM:608393 microcephaly 6, primary, autosomal re MONDO:0012030 skos:exactMatch OMIM:608394 deafness, autosomal dominant 43 semapv:UnspecifiedMatching MONDO:0012031 skos:exactMatch OMIM:608404 platelet glycoprotein 4 deficiency semapv:UnspecifiedMatching MONDO:0012032 skos:exactMatch OMIM:608406 vater-like defects with pulmonary hypertension, laryngeal webs, and growth deficiency semapv:UnspecifiedMatching -MONDO:0012033 skos:exactMatch omim.ps:608415 Prolonged electroretinal response suppression semapv:UnspecifiedMatching +MONDO:0012033 skos:exactMatch OMIMPS:608415 Prolonged electroretinal response suppression semapv:UnspecifiedMatching MONDO:0012034 skos:exactMatch OMIM:608423 muscular dystrophy, limb-girdle, autosomal dominant 2 semapv:UnspecifiedMatching MONDO:0012035 skos:exactMatch OMIM:608432 craniosynostosis, calcification of basal ganglia, and facial dysmorphism semapv:UnspecifiedMatching MONDO:0012036 skos:exactMatch OMIM:608437 systemic lupus erythematosus, susceptibility to, 4 semapv:UnspecifiedMatching @@ -4884,7 +4884,7 @@ MONDO:0012057 skos:exactMatch OMIM:608556 legionnaire disease, susceptibility t MONDO:0012058 skos:exactMatch OMIM:608557 myocardial infarction, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0012059 skos:exactMatch OMIM:608562 polydactyly, postaxial, type a4 semapv:UnspecifiedMatching MONDO:0012060 skos:exactMatch OMIM:608565 deafness, autosomal recessive 35 semapv:UnspecifiedMatching -MONDO:0012061 skos:exactMatch omim.ps:608567 Sick sinus syndrome semapv:UnspecifiedMatching +MONDO:0012061 skos:exactMatch OMIMPS:608567 Sick sinus syndrome semapv:UnspecifiedMatching MONDO:0012062 skos:exactMatch OMIM:608569 cardiomyopathy, dilated, 1o semapv:UnspecifiedMatching MONDO:0012063 skos:exactMatch OMIM:608571 ulnar/fibular ray defect and brachydactyly semapv:UnspecifiedMatching MONDO:0012064 skos:exactMatch OMIM:608572 burn-mckeown syndrome semapv:UnspecifiedMatching @@ -4946,7 +4946,7 @@ MONDO:0012122 skos:exactMatch OMIM:608796 moyamoya disease 3 semapv:Unspecified MONDO:0012123 skos:exactMatch OMIM:608799 congenital disorder of glycosylation, type ie semapv:UnspecifiedMatching MONDO:0012124 skos:exactMatch OMIM:608800 sudden infant death with dysgenesis of the testes syndrome semapv:UnspecifiedMatching MONDO:0012125 skos:exactMatch OMIM:608804 leukodystrophy, hypomyelinating, 2 semapv:UnspecifiedMatching -MONDO:0012126 skos:exactMatch omim.ps:608805 Avascular necrosis of femoral head, primary semapv:UnspecifiedMatching +MONDO:0012126 skos:exactMatch OMIMPS:608805 Avascular necrosis of femoral head, primary semapv:UnspecifiedMatching MONDO:0012127 skos:exactMatch OMIM:608807 muscular dystrophy, limb-girdle, autosomal recessive 10 semapv:UnspecifiedMatching MONDO:0012128 skos:exactMatch OMIM:608808 transposition of the great arteries, dextro-looped semapv:UnspecifiedMatching MONDO:0012129 skos:exactMatch OMIM:608809 leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema semapv:UnspecifiedMatching @@ -4991,7 +4991,7 @@ MONDO:0012168 skos:exactMatch OMIM:608995 dyslexia, susceptibility to, 8 semapv MONDO:0012169 skos:exactMatch OMIM:608996 premature ovarian failure 3 semapv:UnspecifiedMatching MONDO:0012170 skos:exactMatch OMIM:609006 deafness, autosomal recessive 36, with or without vestibular involvement semapv:UnspecifiedMatching MONDO:0012171 skos:exactMatch OMIM:609008 marfanoid habitus with situs inversus semapv:UnspecifiedMatching -MONDO:0012172 skos:exactMatch omim.ps:609015 Mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching +MONDO:0012172 skos:exactMatch OMIMPS:609015 Mitochondrial trifunctional protein deficiency semapv:UnspecifiedMatching MONDO:0012173 skos:exactMatch OMIM:609016 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0012174 skos:exactMatch OMIM:609021 peripheral cone dystrophy semapv:UnspecifiedMatching MONDO:0012175 skos:exactMatch OMIM:609026 cataract 28 semapv:UnspecifiedMatching @@ -5090,7 +5090,7 @@ MONDO:0012272 skos:exactMatch OMIM:609438 intellectual developmental disorder w MONDO:0012273 skos:exactMatch OMIM:609439 deafness, autosomal recessive 48 semapv:UnspecifiedMatching MONDO:0012274 skos:exactMatch OMIM:609441 acromesomelic dysplasia 3 semapv:UnspecifiedMatching MONDO:0012275 skos:exactMatch OMIM:609442 valproate embryopathy, susceptibility to semapv:UnspecifiedMatching -MONDO:0012276 skos:exactMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy semapv:UnspecifiedMatching +MONDO:0012276 skos:exactMatch OMIM:609446 paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy semapv:UnspecifiedMatching MONDO:0012277 skos:exactMatch OMIM:609452 myopathy, myofibrillar, 4 semapv:UnspecifiedMatching MONDO:0012278 skos:exactMatch OMIM:609454 supranuclear palsy, progressive, 2 semapv:UnspecifiedMatching MONDO:0012280 skos:exactMatch OMIM:609460 goldberg-shprintzen syndrome semapv:UnspecifiedMatching @@ -5264,7 +5264,7 @@ MONDO:0012451 skos:exactMatch OMIM:610247 esophagitis, eosinophilic, 1 semapv:U MONDO:0012452 skos:exactMatch OMIM:610248 deafness, autosomal recessive 65 semapv:UnspecifiedMatching MONDO:0012453 skos:exactMatch OMIM:610250 spastic paraplegia 31, autosomal dominant semapv:UnspecifiedMatching MONDO:0012454 skos:exactMatch OMIM:610251 alcohol sensitivity, acute semapv:UnspecifiedMatching -MONDO:0012455 skos:exactMatch omim.ps:610253 Kleefstra syndrome semapv:UnspecifiedMatching +MONDO:0012455 skos:exactMatch OMIMPS:610253 Kleefstra syndrome semapv:UnspecifiedMatching MONDO:0012456 skos:exactMatch OMIM:610256 anterior segment dysgenesis 2 semapv:UnspecifiedMatching MONDO:0012457 skos:exactMatch OMIM:610260 pyloric stenosis, infantile hypertrophic, 2 semapv:UnspecifiedMatching MONDO:0012458 skos:exactMatch OMIM:610261 hypertension, essential, susceptibility to, 5 semapv:UnspecifiedMatching @@ -5388,7 +5388,7 @@ MONDO:0012576 skos:exactMatch OMIM:610898 supranuclear palsy, progressive, 3 se MONDO:0012577 skos:exactMatch OMIM:610906 asthma-related traits, susceptibility to, 4 semapv:UnspecifiedMatching MONDO:0012578 skos:exactMatch OMIM:610908 autism, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0012579 skos:exactMatch OMIM:610910 pulmonary alveolar proteinosis, acquired semapv:UnspecifiedMatching -MONDO:0012580 skos:exactMatch omim.ps:265120 Surfactant metabolism dysfunction, pulmonary semapv:UnspecifiedMatching +MONDO:0012580 skos:exactMatch OMIMPS:265120 Surfactant metabolism dysfunction, pulmonary semapv:UnspecifiedMatching MONDO:0012581 skos:exactMatch OMIM:610915 osteogenesis imperfecta, type 8 semapv:UnspecifiedMatching MONDO:0012582 skos:exactMatch OMIM:610921 surfactant metabolism dysfunction, pulmonary, 3 semapv:UnspecifiedMatching MONDO:0012583 skos:exactMatch OMIM:610926 tooth agenesis, selective, 5 semapv:UnspecifiedMatching @@ -5618,7 +5618,7 @@ MONDO:0012811 skos:exactMatch OMIM:612162 aneurysm, intracranial berry, 8 semap MONDO:0012812 skos:exactMatch OMIM:612164 developmental and epileptic encephalopathy 4 semapv:UnspecifiedMatching MONDO:0012813 skos:exactMatch OMIM:612165 retinitis pigmentosa 29 semapv:UnspecifiedMatching MONDO:0012814 skos:exactMatch OMIM:612198 diastasis recti and weakness of the linea alba semapv:UnspecifiedMatching -MONDO:0012815 skos:exactMatch omim.ps:612199 Cerebroretinal microangiopathy with calcfications and cysts semapv:UnspecifiedMatching +MONDO:0012815 skos:exactMatch OMIMPS:612199 Cerebroretinal microangiopathy with calcfications and cysts semapv:UnspecifiedMatching MONDO:0012816 skos:exactMatch OMIM:612201 atrial fibrillation, familial, 6 semapv:UnspecifiedMatching MONDO:0012817 skos:exactMatch OMIM:612219 ewing sarcoma semapv:UnspecifiedMatching MONDO:0012818 skos:exactMatch OMIM:612225 maturity-onset diabetes of the young, type 9 semapv:UnspecifiedMatching @@ -5768,7 +5768,7 @@ MONDO:0012963 skos:exactMatch OMIM:612624 microvascular complications of diabet MONDO:0012964 skos:exactMatch OMIM:612626 chromosome 15q26-qter deletion syndrome semapv:UnspecifiedMatching MONDO:0012965 skos:exactMatch OMIM:612627 seizures, benign familial infantile, 4 semapv:UnspecifiedMatching MONDO:0012966 skos:exactMatch OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 semapv:UnspecifiedMatching -MONDO:0012967 skos:exactMatch OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to semapv:UnspecifiedMatching +MONDO:0012967 skos:exactMatch OMIM:612631 anemia, congenital, nonspherocytic hemolytic, 3 semapv:UnspecifiedMatching MONDO:0012968 skos:exactMatch OMIM:612632 usher syndrome, type 1h semapv:UnspecifiedMatching MONDO:0012969 skos:exactMatch OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 semapv:UnspecifiedMatching MONDO:0012970 skos:exactMatch OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 semapv:UnspecifiedMatching @@ -5894,7 +5894,7 @@ MONDO:0013094 skos:exactMatch OMIM:613030 glioma susceptibility 5 semapv:Unspec MONDO:0013095 skos:exactMatch OMIM:613031 glioma susceptibility 6 semapv:UnspecifiedMatching MONDO:0013096 skos:exactMatch OMIM:613032 glioma susceptibility 7 semapv:UnspecifiedMatching MONDO:0013097 skos:exactMatch OMIM:613033 glioma susceptibility 8 semapv:UnspecifiedMatching -MONDO:0013099 skos:exactMatch omim.ps:613038 Pituitary hormone deficiency, combined semapv:UnspecifiedMatching +MONDO:0013099 skos:exactMatch OMIMPS:613038 Pituitary hormone deficiency, combined semapv:UnspecifiedMatching MONDO:0013100 skos:exactMatch OMIM:613055 atrial fibrillation, familial, 8 semapv:UnspecifiedMatching MONDO:0013101 skos:exactMatch OMIM:613058 basal cell carcinoma, susceptibility to, 2 semapv:UnspecifiedMatching MONDO:0013102 skos:exactMatch OMIM:613059 basal cell carcinoma, susceptibility to, 3 semapv:UnspecifiedMatching @@ -5943,7 +5943,7 @@ MONDO:0013146 skos:exactMatch OMIM:613120 brugada syndrome 7 semapv:Unspecified MONDO:0013147 skos:exactMatch OMIM:613122 cardiomyopathy, dilated, 1cc semapv:UnspecifiedMatching MONDO:0013148 skos:exactMatch OMIM:613123 brugada syndrome 8 semapv:UnspecifiedMatching MONDO:0013149 skos:exactMatch OMIM:613124 hydrops fetalis, nonimmune, with gracile bones and dysmorphism semapv:UnspecifiedMatching -MONDO:0013150 skos:exactMatch omim.ps:613135 Parkinsonism-dystonia, infantile semapv:UnspecifiedMatching +MONDO:0013150 skos:exactMatch OMIMPS:613135 Parkinsonism-dystonia, infantile semapv:UnspecifiedMatching MONDO:0013151 skos:exactMatch OMIM:613144 choroidal dystrophy, central areolar, 3 semapv:UnspecifiedMatching MONDO:0013152 skos:exactMatch OMIM:613145 systemic lupus erythematosus, susceptibility to, 14 semapv:UnspecifiedMatching MONDO:0013153 skos:exactMatch OMIM:613148 inflammatory bowel disease 28, autosomal recessive semapv:UnspecifiedMatching @@ -6020,7 +6020,7 @@ MONDO:0013225 skos:exactMatch OMIM:613327 lipodystrophy, congenital generalized MONDO:0013226 skos:exactMatch OMIM:613328 roifman-chitayat syndrome semapv:UnspecifiedMatching MONDO:0013227 skos:exactMatch OMIM:613329 plasminogen activator inhibitor-1 deficiency semapv:UnspecifiedMatching MONDO:0013228 skos:exactMatch OMIM:613330 spondylo-megaepiphyseal-metaphyseal dysplasia semapv:UnspecifiedMatching -MONDO:0013229 skos:exactMatch omim.ps:613339 Hot water epilepsy semapv:UnspecifiedMatching +MONDO:0013229 skos:exactMatch OMIMPS:613339 Hot water epilepsy semapv:UnspecifiedMatching MONDO:0013230 skos:exactMatch OMIM:613340 epilepsy, hot water, 2 semapv:UnspecifiedMatching MONDO:0013231 skos:exactMatch OMIM:613341 leber congenital amaurosis 14 semapv:UnspecifiedMatching MONDO:0013232 skos:exactMatch OMIM:613342 mseleni joint disease semapv:UnspecifiedMatching @@ -6066,7 +6066,7 @@ MONDO:0013271 skos:exactMatch OMIM:613456 frontonasal dysplasia 3 semapv:Unspec MONDO:0013272 skos:exactMatch OMIM:613457 chromosome 14q11-q22 deletion syndrome semapv:UnspecifiedMatching MONDO:0013273 skos:exactMatch OMIM:613458 chromosome 16p13.3 duplication syndrome semapv:UnspecifiedMatching MONDO:0013274 skos:exactMatch OMIM:613464 retinitis pigmentosa 51 semapv:UnspecifiedMatching -MONDO:0013275 skos:exactMatch OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency semapv:UnspecifiedMatching +MONDO:0013275 skos:exactMatch OMIM:613470 anemia, congenital, nonspherocytic hemolytic, 4 semapv:UnspecifiedMatching MONDO:0013276 skos:exactMatch OMIM:613471 reynolds syndrome semapv:UnspecifiedMatching MONDO:0013277 skos:exactMatch OMIM:613477 developmental and epileptic encephalopathy 5 semapv:UnspecifiedMatching MONDO:0013278 skos:exactMatch OMIM:613480 lymphatic malformation 3 semapv:UnspecifiedMatching @@ -6102,7 +6102,7 @@ MONDO:0013307 skos:exactMatch OMIM:613561 myopathy, lactic acidosis, and sidero MONDO:0013308 skos:exactMatch OMIM:613563 noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia semapv:UnspecifiedMatching MONDO:0013309 skos:exactMatch OMIM:613564 chromosome 2p12-p11.2 deletion syndrome semapv:UnspecifiedMatching MONDO:0013310 skos:exactMatch OMIM:613571 disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency semapv:UnspecifiedMatching -MONDO:0013311 skos:exactMatch omim.ps:613573 Ectodermal dysplasia-syndactyly syndrome semapv:UnspecifiedMatching +MONDO:0013311 skos:exactMatch OMIMPS:613573 Ectodermal dysplasia-syndactyly syndrome semapv:UnspecifiedMatching MONDO:0013312 skos:exactMatch OMIM:613575 retinitis pigmentosa 55 semapv:UnspecifiedMatching MONDO:0013313 skos:exactMatch OMIM:613576 ectodermal dysplasia-syndactyly syndrome 2 semapv:UnspecifiedMatching MONDO:0013314 skos:exactMatch OMIM:613581 retinitis pigmentosa 56 semapv:UnspecifiedMatching @@ -6134,7 +6134,7 @@ MONDO:0013339 skos:exactMatch OMIM:613642 cardiomyopathy, dilated, 1gg semapv:U MONDO:0013340 skos:exactMatch OMIM:613643 parkinson disease 5, autosomal dominant, susceptibility to semapv:UnspecifiedMatching MONDO:0013341 skos:exactMatch OMIM:613646 methylmalonic aciduria, transient, due to transcobalamin receptor defect semapv:UnspecifiedMatching MONDO:0013342 skos:exactMatch OMIM:613647 spastic paraplegia 48, autosomal recessive semapv:UnspecifiedMatching -MONDO:0013343 skos:exactMatch omim.ps:613652 C1q deficiency semapv:UnspecifiedMatching +MONDO:0013343 skos:exactMatch OMIMPS:613652 C1q deficiency semapv:UnspecifiedMatching MONDO:0013344 skos:exactMatch OMIM:613656 migraine with aura, susceptibility to, 13 semapv:UnspecifiedMatching MONDO:0013345 skos:exactMatch OMIM:613657 d-2-hydroxyglutaric aciduria 2 semapv:UnspecifiedMatching MONDO:0013348 skos:exactMatch OMIM:613660 cone-rod dystrophy 15 semapv:UnspecifiedMatching @@ -6144,7 +6144,7 @@ MONDO:0013351 skos:exactMatch OMIM:613668 microcephaly, postnatal progressive, MONDO:0013352 skos:exactMatch OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features semapv:UnspecifiedMatching MONDO:0013353 skos:exactMatch OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus semapv:UnspecifiedMatching MONDO:0013354 skos:exactMatch OMIM:613672 spastic ataxia 4, autosomal recessive semapv:UnspecifiedMatching -MONDO:0013355 skos:exactMatch OMIM:613673 anemia, congenital dyserythropoietic, type 4 semapv:UnspecifiedMatching +MONDO:0013355 skos:exactMatch OMIM:613673 anemia, congenital dyserythropoietic, type iva semapv:UnspecifiedMatching MONDO:0013356 skos:exactMatch OMIM:613674 vesicoureteral reflux 3 semapv:UnspecifiedMatching MONDO:0013357 skos:exactMatch OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb semapv:UnspecifiedMatching MONDO:0013358 skos:exactMatch OMIM:613676 seckel syndrome 4 semapv:UnspecifiedMatching @@ -6749,7 +6749,7 @@ MONDO:0013977 skos:exactMatch OMIM:614932 combined oxidative phosphorylation de MONDO:0013978 skos:exactMatch OMIM:614934 deafness, autosomal recessive 70, with or without adult-onset neurodegeneration semapv:UnspecifiedMatching MONDO:0013979 skos:exactMatch OMIM:614935 ciliary dyskinesia, primary, 19 semapv:UnspecifiedMatching MONDO:0013980 skos:exactMatch OMIM:614936 palmoplantar keratoderma, punctate type 1b semapv:UnspecifiedMatching -MONDO:0013981 skos:exactMatch omim.ps:614937 Myoclonus, familial semapv:UnspecifiedMatching +MONDO:0013981 skos:exactMatch OMIMPS:614937 Myoclonus, familial semapv:UnspecifiedMatching MONDO:0013982 skos:exactMatch OMIM:614940 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant semapv:UnspecifiedMatching MONDO:0013983 skos:exactMatch OMIM:614941 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive semapv:UnspecifiedMatching MONDO:0013984 skos:exactMatch OMIM:614944 deafness, autosomal recessive 84b semapv:UnspecifiedMatching @@ -6939,7 +6939,7 @@ MONDO:0014172 skos:exactMatch OMIM:615413 spermatogenic failure 12 semapv:Unspe MONDO:0014173 skos:exactMatch OMIM:615414 microcephaly 11, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014174 skos:exactMatch OMIM:615415 renal-hepatic-pancreatic dysplasia 2 semapv:UnspecifiedMatching MONDO:0014175 skos:exactMatch OMIM:615418 mitochondrial DNA depletion syndrome 12b (cardiomyopathic type), autosomal recessive semapv:UnspecifiedMatching -MONDO:0014176 skos:exactMatch omim.ps:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies semapv:UnspecifiedMatching +MONDO:0014176 skos:exactMatch OMIMPS:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies semapv:UnspecifiedMatching MONDO:0014177 skos:exactMatch OMIM:615420 myopia 22, autosomal dominant semapv:UnspecifiedMatching MONDO:0014178 skos:exactMatch OMIM:615422 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 semapv:UnspecifiedMatching MONDO:0014179 skos:exactMatch OMIM:615424 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 semapv:UnspecifiedMatching @@ -7229,7 +7229,7 @@ MONDO:0014467 skos:exactMatch OMIM:616039 charcot-marie-tooth disease, recessiv MONDO:0014468 skos:exactMatch OMIM:616040 myasthenic syndrome, congenital, 7a, presynaptic, and distal motor neuropathy, autosomal dominant semapv:UnspecifiedMatching MONDO:0014469 skos:exactMatch OMIM:616042 deafness, autosomal recessive 103 semapv:UnspecifiedMatching MONDO:0014470 skos:exactMatch OMIM:616044 deafness, autosomal dominant 65 semapv:UnspecifiedMatching -MONDO:0014471 skos:exactMatch omim.ps:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type semapv:UnspecifiedMatching +MONDO:0014471 skos:exactMatch OMIMPS:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type semapv:UnspecifiedMatching MONDO:0014472 skos:exactMatch OMIM:616050 autoinflammation with infantile enterocolitis semapv:UnspecifiedMatching MONDO:0014473 skos:exactMatch OMIM:616051 microcephaly 13, primary, autosomal recessive semapv:UnspecifiedMatching MONDO:0014474 skos:exactMatch OMIM:616052 muscular dystrophy-dystroglycanopathy (limb-girdle), type c, 7 semapv:UnspecifiedMatching @@ -7385,9 +7385,9 @@ MONDO:0014625 skos:exactMatch OMIM:616409 developmental and epileptic encephalo MONDO:0014626 skos:exactMatch OMIM:616410 spinocerebellar ataxia 41 semapv:UnspecifiedMatching MONDO:0014627 skos:exactMatch OMIM:616411 dystonia 27 semapv:UnspecifiedMatching MONDO:0014628 skos:exactMatch OMIM:616413 basal ganglia calcification, idiopathic, 6 semapv:UnspecifiedMatching -MONDO:0014629 skos:exactMatch OMIM:616414 autoimmune interstitial lung, joint, and kidney disease semapv:UnspecifiedMatching +MONDO:0014629 skos:exactMatch OMIM:616414 autoinflammation and autoimmunity, systemic, with immune dysregulation semapv:UnspecifiedMatching MONDO:0014630 skos:exactMatch OMIM:616415 familial adenomatous polyposis 3 semapv:UnspecifiedMatching -MONDO:0014631 skos:exactMatch omim.ps:616418 Hypomagnesemia, seizures, and mental retardation semapv:UnspecifiedMatching +MONDO:0014631 skos:exactMatch OMIMPS:616418 Hypomagnesemia, seizures, and mental retardation semapv:UnspecifiedMatching MONDO:0014632 skos:exactMatch OMIM:616420 leukodystrophy, hypomyelinating, 10 semapv:UnspecifiedMatching MONDO:0014633 skos:exactMatch OMIM:616421 myoclonic-atonic epilepsy semapv:UnspecifiedMatching MONDO:0014634 skos:exactMatch OMIM:616425 46,xy sex reversal 10 semapv:UnspecifiedMatching @@ -7519,7 +7519,7 @@ MONDO:0014765 skos:exactMatch OMIM:616760 woolly hair, autosomal recessive 3 se MONDO:0014766 skos:exactMatch OMIM:616763 leukodystrophy and acquired microcephaly with or without dystonia semapv:UnspecifiedMatching MONDO:0014767 skos:exactMatch OMIM:616777 seckel syndrome 9 semapv:UnspecifiedMatching MONDO:0014768 skos:exactMatch OMIM:616779 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 semapv:UnspecifiedMatching -MONDO:0014769 skos:exactMatch omim.ps:615774 Oocyte/zygote/embryo maturation arrest semapv:UnspecifiedMatching +MONDO:0014769 skos:exactMatch OMIMPS:615774 Oocyte/zygote/embryo maturation arrest semapv:UnspecifiedMatching MONDO:0014770 skos:exactMatch OMIM:616781 joubert syndrome 25 semapv:UnspecifiedMatching MONDO:0014771 skos:exactMatch OMIM:616784 joubert syndrome 26 semapv:UnspecifiedMatching MONDO:0014772 skos:exactMatch OMIM:616788 orofacial cleft 15 semapv:UnspecifiedMatching @@ -7702,7 +7702,7 @@ MONDO:0014956 skos:exactMatch OMIM:617180 chitayat syndrome semapv:UnspecifiedM MONDO:0014957 skos:exactMatch OMIM:617182 lodder-merla syndrome, type 2, with developmental delay and with or without cardiac arrhythmia semapv:UnspecifiedMatching MONDO:0014958 skos:exactMatch OMIM:617183 harel-yoon syndrome semapv:UnspecifiedMatching MONDO:0014959 skos:exactMatch OMIM:617184 mitochondrial DNA depletion syndrome 12a (cardiomyopathic type), autosomal dominant semapv:UnspecifiedMatching -MONDO:0014960 skos:exactMatch omim.ps:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy semapv:UnspecifiedMatching +MONDO:0014960 skos:exactMatch OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy semapv:UnspecifiedMatching MONDO:0014961 skos:exactMatch OMIM:617187 spermatogenic failure 16 semapv:UnspecifiedMatching MONDO:0014962 skos:exactMatch OMIM:617188 intellectual developmental disorder, autosomal recessive 57 semapv:UnspecifiedMatching MONDO:0014963 skos:exactMatch OMIM:617190 shashi-pena syndrome semapv:UnspecifiedMatching @@ -7721,7 +7721,7 @@ MONDO:0014976 skos:exactMatch OMIM:617228 combined oxidative phosphorylation de MONDO:0014977 skos:exactMatch OMIM:617232 muscular dystrophy, limb-girdle, autosomal recessive 21 semapv:UnspecifiedMatching MONDO:0014978 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching MONDO:0014979 skos:exactMatch OMIM:617235 myoclonus, intractable, neonatal semapv:UnspecifiedMatching -MONDO:0014980 skos:exactMatch omim.ps:617236 Cone-rod dystrophy and hearing loss semapv:UnspecifiedMatching +MONDO:0014980 skos:exactMatch OMIMPS:617236 Cone-rod dystrophy and hearing loss semapv:UnspecifiedMatching MONDO:0014981 skos:exactMatch OMIM:617237 immunodeficiency 49, severe combined semapv:UnspecifiedMatching MONDO:0014982 skos:exactMatch OMIM:617238 myopia 25, autosomal dominant semapv:UnspecifiedMatching MONDO:0014983 skos:exactMatch OMIM:617239 myasthenic syndrome, congenital, 21, presynaptic semapv:UnspecifiedMatching @@ -7768,334 +7768,334 @@ MONDO:0015024 skos:exactMatch OMIM:617337 ectodermal dysplasia 12, hypohidrotic MONDO:0015025 skos:exactMatch OMIM:617339 developmental and epileptic encephalopathy 51 semapv:UnspecifiedMatching MONDO:0015026 skos:exactMatch OMIM:617341 cerebroretinal microangiopathy with calcifications and cysts 2 semapv:UnspecifiedMatching MONDO:0015129 skos:exactMatch OMIM:240200 hypoadrenocorticism, familial semapv:UnspecifiedMatching -MONDO:0015151 skos:exactMatch omim.ps:603511 Muscular dystrophy, limb-girdle, autosomal dominant semapv:UnspecifiedMatching -MONDO:0015152 skos:exactMatch omim.ps:253600 Muscular dystrophy, limb-girdle, autosomal recessive semapv:UnspecifiedMatching +MONDO:0015151 skos:exactMatch OMIMPS:603511 Muscular dystrophy, limb-girdle, autosomal dominant semapv:UnspecifiedMatching +MONDO:0015152 skos:exactMatch OMIMPS:253600 Muscular dystrophy, limb-girdle, autosomal recessive semapv:UnspecifiedMatching MONDO:0015167 skos:exactMatch OMIM:217100 constricting bands, congenital semapv:UnspecifiedMatching -MONDO:0015168 skos:exactMatch omim.ps:617468 Arthrogryposis multiplex congenita semapv:UnspecifiedMatching -MONDO:0015229 skos:exactMatch omim.ps:209900 Bardet-Biedl syndrome semapv:UnspecifiedMatching -MONDO:0015231 skos:exactMatch omim.ps:601678 Bartter syndrome semapv:UnspecifiedMatching +MONDO:0015168 skos:exactMatch OMIMPS:617468 Arthrogryposis multiplex congenita semapv:UnspecifiedMatching +MONDO:0015229 skos:exactMatch OMIMPS:209900 Bardet-Biedl syndrome semapv:UnspecifiedMatching +MONDO:0015231 skos:exactMatch OMIMPS:601678 Bartter syndrome semapv:UnspecifiedMatching MONDO:0015243 skos:exactMatch OMIM:103920 allergic bronchopulmonary aspergillosis, familial semapv:UnspecifiedMatching -MONDO:0015244 skos:exactMatch omim.ps:213200 Spinocerebellar ataxia, autosomal recessive semapv:UnspecifiedMatching -MONDO:0015253 skos:exactMatch omim.ps:105650 Diamond-Blackfan anemia semapv:UnspecifiedMatching -MONDO:0015263 skos:exactMatch omim.ps:601144 Brugada syndrome semapv:UnspecifiedMatching -MONDO:0015267 skos:exactMatch omim.ps:164280 Feingold syndrome semapv:UnspecifiedMatching +MONDO:0015244 skos:exactMatch OMIMPS:213200 Spinocerebellar ataxia, autosomal recessive semapv:UnspecifiedMatching +MONDO:0015253 skos:exactMatch OMIMPS:105650 Diamond-Blackfan anemia semapv:UnspecifiedMatching +MONDO:0015263 skos:exactMatch OMIMPS:601144 Brugada syndrome semapv:UnspecifiedMatching +MONDO:0015267 skos:exactMatch OMIMPS:164280 Feingold syndrome semapv:UnspecifiedMatching MONDO:0015270 skos:exactMatch OMIM:617936 butyrylcholinesterase deficiency semapv:UnspecifiedMatching MONDO:0015278 skos:exactMatch OMIM:260350 pancreatic cancer semapv:UnspecifiedMatching -MONDO:0015279 skos:exactMatch omim.ps:114580 Familial candidiasis semapv:UnspecifiedMatching -MONDO:0015280 skos:exactMatch omim.ps:115150 Cardiofaciocutaneous syndrome semapv:UnspecifiedMatching +MONDO:0015279 skos:exactMatch OMIMPS:114580 Familial candidiasis semapv:UnspecifiedMatching +MONDO:0015280 skos:exactMatch OMIMPS:115150 Cardiofaciocutaneous syndrome semapv:UnspecifiedMatching MONDO:0015350 skos:exactMatch OMIM:618874 chromosome 17q11.2 duplication syndrome, 1.4-mb semapv:UnspecifiedMatching MONDO:0015353 skos:exactMatch OMIM:600794 neuronopathy, distal hereditary motor, autosomal dominant 5 semapv:UnspecifiedMatching -MONDO:0015362 skos:exactMatch omim.ps:182960 Neuronopathy, distal hereditary motor, autosomal dominant semapv:UnspecifiedMatching -MONDO:0015363 skos:exactMatch omim.ps:604320 Neuronopathy, distal hereditary motor, autosomal recessive semapv:UnspecifiedMatching -MONDO:0015364 skos:exactMatch omim.ps:162400 Hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching -MONDO:0015375 skos:exactMatch omim.ps:311200 Orofaciodigital syndrome semapv:UnspecifiedMatching -MONDO:0015397 skos:exactMatch omim.ps:164210 Craniofacial Microsomia semapv:UnspecifiedMatching -MONDO:0015426 skos:exactMatch omim.ps:251450 Desbuquois dysplasia semapv:UnspecifiedMatching -MONDO:0015452 skos:exactMatch omim.ps:135900 Coffin-Siris syndrome semapv:UnspecifiedMatching -MONDO:0015465 skos:exactMatch omim.ps:123000 Craniometaphyseal dysplasia semapv:UnspecifiedMatching -MONDO:0015469 skos:exactMatch omim.ps:123100 Craniosynostosis semapv:UnspecifiedMatching -MONDO:0015486 skos:exactMatch omim.ps:148300 Keratoconus semapv:UnspecifiedMatching -MONDO:0015517 skos:exactMatch omim.ps:607594 Immunodeficiency, common variable semapv:UnspecifiedMatching -MONDO:0015526 skos:exactMatch omim.ps:272430 Cold-induced sweating syndrome semapv:UnspecifiedMatching -MONDO:0015541 skos:exactMatch omim.ps:267700 Hemophagocytic lymphohistiocytosis, familial semapv:UnspecifiedMatching +MONDO:0015362 skos:exactMatch OMIMPS:182960 Neuronopathy, distal hereditary motor, autosomal dominant semapv:UnspecifiedMatching +MONDO:0015363 skos:exactMatch OMIMPS:604320 Neuronopathy, distal hereditary motor, autosomal recessive semapv:UnspecifiedMatching +MONDO:0015364 skos:exactMatch OMIMPS:162400 Hereditary sensory and autonomic neuropathy semapv:UnspecifiedMatching +MONDO:0015375 skos:exactMatch OMIMPS:311200 Orofaciodigital syndrome semapv:UnspecifiedMatching +MONDO:0015397 skos:exactMatch OMIMPS:164210 Craniofacial Microsomia semapv:UnspecifiedMatching +MONDO:0015426 skos:exactMatch OMIMPS:251450 Desbuquois dysplasia semapv:UnspecifiedMatching +MONDO:0015452 skos:exactMatch OMIMPS:135900 Coffin-Siris syndrome semapv:UnspecifiedMatching +MONDO:0015465 skos:exactMatch OMIMPS:123000 Craniometaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0015469 skos:exactMatch OMIMPS:123100 Craniosynostosis semapv:UnspecifiedMatching +MONDO:0015486 skos:exactMatch OMIMPS:148300 Keratoconus semapv:UnspecifiedMatching +MONDO:0015517 skos:exactMatch OMIMPS:607594 Immunodeficiency, common variable semapv:UnspecifiedMatching +MONDO:0015526 skos:exactMatch OMIMPS:272430 Cold-induced sweating syndrome semapv:UnspecifiedMatching +MONDO:0015541 skos:exactMatch OMIMPS:267700 Hemophagocytic lymphohistiocytosis, familial semapv:UnspecifiedMatching MONDO:0015601 skos:exactMatch OMIM:301030 van esch-o'driscoll syndrome semapv:UnspecifiedMatching -MONDO:0015609 skos:exactMatch omim.ps:604348 Advanced sleep phase syndrome semapv:UnspecifiedMatching -MONDO:0015612 skos:exactMatch omim.ps:300009 Dent disease semapv:UnspecifiedMatching -MONDO:0015626 skos:exactMatch omim.ps:118220 Charcot-Marie-Tooth disease semapv:UnspecifiedMatching -MONDO:0015643 skos:exactMatch omim.ps:132100 Photoparoxysmal response semapv:UnspecifiedMatching -MONDO:0015722 skos:exactMatch omim.ps:277450 Vitamin K-dependent clotting factors, combined deficiency of semapv:UnspecifiedMatching -MONDO:0015748 skos:exactMatch omim.ps:193900 White sponge nevus semapv:UnspecifiedMatching -MONDO:0015762 skos:exactMatch omim.ps:211600 Cholestasis, progressive familial intrahepatic semapv:UnspecifiedMatching -MONDO:0015776 skos:exactMatch omim.ps:215100 Rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching -MONDO:0015780 skos:exactMatch omim.ps:127550 Dyskeratosis congenita semapv:UnspecifiedMatching -MONDO:0015797 skos:exactMatch omim.ps:600630 UV-sensitive syndrome semapv:UnspecifiedMatching -MONDO:0015799 skos:exactMatch omim.ps:607326 Smith-McCort dysplasia semapv:UnspecifiedMatching -MONDO:0015827 skos:exactMatch omim.ps:179800 Distal renal tubular acidosis semapv:UnspecifiedMatching -MONDO:0015855 skos:exactMatch omim.ps:113700 Breasts and/or nipples, aplasia or hypoplasia of semapv:UnspecifiedMatching +MONDO:0015609 skos:exactMatch OMIMPS:604348 Advanced sleep phase syndrome semapv:UnspecifiedMatching +MONDO:0015612 skos:exactMatch OMIMPS:300009 Dent disease semapv:UnspecifiedMatching +MONDO:0015626 skos:exactMatch OMIMPS:118220 Charcot-Marie-Tooth disease semapv:UnspecifiedMatching +MONDO:0015643 skos:exactMatch OMIMPS:132100 Photoparoxysmal response semapv:UnspecifiedMatching +MONDO:0015722 skos:exactMatch OMIMPS:277450 Vitamin K-dependent clotting factors, combined deficiency of semapv:UnspecifiedMatching +MONDO:0015748 skos:exactMatch OMIMPS:193900 White sponge nevus semapv:UnspecifiedMatching +MONDO:0015762 skos:exactMatch OMIMPS:211600 Cholestasis, progressive familial intrahepatic semapv:UnspecifiedMatching +MONDO:0015776 skos:exactMatch OMIMPS:215100 Rhizomelic chondrodysplasia punctata semapv:UnspecifiedMatching +MONDO:0015780 skos:exactMatch OMIMPS:127550 Dyskeratosis congenita semapv:UnspecifiedMatching +MONDO:0015797 skos:exactMatch OMIMPS:600630 UV-sensitive syndrome semapv:UnspecifiedMatching +MONDO:0015799 skos:exactMatch OMIMPS:607326 Smith-McCort dysplasia semapv:UnspecifiedMatching +MONDO:0015827 skos:exactMatch OMIMPS:179800 Distal renal tubular acidosis semapv:UnspecifiedMatching +MONDO:0015855 skos:exactMatch OMIMPS:113700 Breasts and/or nipples, aplasia or hypoplasia of semapv:UnspecifiedMatching MONDO:0015912 skos:exactMatch OMIM:155100 macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss semapv:UnspecifiedMatching -MONDO:0015942 skos:exactMatch omim.ps:305620 Frontometaphyseal dysplasia semapv:UnspecifiedMatching -MONDO:0015977 skos:exactMatch omim.ps:601495 Agammaglobulinemia semapv:UnspecifiedMatching -MONDO:0015991 skos:exactMatch omim.ps:215700 Citrullinemia semapv:UnspecifiedMatching -MONDO:0015993 skos:exactMatch omim.ps:120970 Cone-rod dystrophy/Cone dystrophy semapv:UnspecifiedMatching -MONDO:0015999 skos:exactMatch omim.ps:610489 Pigmented nodular adrenocortical disease, primary semapv:UnspecifiedMatching +MONDO:0015942 skos:exactMatch OMIMPS:305620 Frontometaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0015977 skos:exactMatch OMIMPS:601495 Agammaglobulinemia semapv:UnspecifiedMatching +MONDO:0015991 skos:exactMatch OMIMPS:215700 Citrullinemia semapv:UnspecifiedMatching +MONDO:0015993 skos:exactMatch OMIMPS:120970 Cone-rod dystrophy/Cone dystrophy semapv:UnspecifiedMatching +MONDO:0015999 skos:exactMatch OMIMPS:610489 Pigmented nodular adrenocortical disease, primary semapv:UnspecifiedMatching MONDO:0016002 skos:exactMatch OMIM:225400 ehlers-danlos syndrome, kyphoscoliotic type, 1 semapv:UnspecifiedMatching -MONDO:0016027 skos:exactMatch omim.ps:121200 Seizures, benign familial neonatal semapv:UnspecifiedMatching -MONDO:0016033 skos:exactMatch omim.ps:122470 Cornelia de Lange syndrome semapv:UnspecifiedMatching -MONDO:0016063 skos:exactMatch omim.ps:158350 Cowden disease semapv:UnspecifiedMatching -MONDO:0016068 skos:exactMatch omim.ps:228520 Fibrochondrogenesis semapv:UnspecifiedMatching -MONDO:0016070 skos:exactMatch omim.ps:135300 Gingival fibromatosis semapv:UnspecifiedMatching -MONDO:0016073 skos:exactMatch omim.ps:309800 Microphthalmia, syndromic semapv:UnspecifiedMatching -MONDO:0016085 skos:exactMatch omim.ps:112240 Cole-Carpenter syndrome semapv:UnspecifiedMatching -MONDO:0016107 skos:exactMatch omim.ps:160900 Myotonic dystrophy semapv:UnspecifiedMatching +MONDO:0016027 skos:exactMatch OMIMPS:121200 Seizures, benign familial neonatal semapv:UnspecifiedMatching +MONDO:0016033 skos:exactMatch OMIMPS:122470 Cornelia de Lange syndrome semapv:UnspecifiedMatching +MONDO:0016063 skos:exactMatch OMIMPS:158350 Cowden disease semapv:UnspecifiedMatching +MONDO:0016068 skos:exactMatch OMIMPS:228520 Fibrochondrogenesis semapv:UnspecifiedMatching +MONDO:0016070 skos:exactMatch OMIMPS:135300 Gingival fibromatosis semapv:UnspecifiedMatching +MONDO:0016073 skos:exactMatch OMIMPS:309800 Microphthalmia, syndromic semapv:UnspecifiedMatching +MONDO:0016085 skos:exactMatch OMIMPS:112240 Cole-Carpenter syndrome semapv:UnspecifiedMatching +MONDO:0016107 skos:exactMatch OMIMPS:160900 Myotonic dystrophy semapv:UnspecifiedMatching MONDO:0016163 skos:exactMatch OMIM:164500 spinocerebellar ataxia 7 semapv:UnspecifiedMatching -MONDO:0016166 skos:exactMatch omim.ps:145000 Hyperparathyroidism semapv:UnspecifiedMatching -MONDO:0016215 skos:exactMatch omim.ps:612900 Spastic quadriplegic cerebral palsy semapv:UnspecifiedMatching -MONDO:0016227 skos:exactMatch omim.ps:160120 Episodic ataxia semapv:UnspecifiedMatching -MONDO:0016241 skos:exactMatch omim.ps:104290 Alternating hemiplegia of childhood semapv:UnspecifiedMatching -MONDO:0016256 skos:exactMatch omim.ps:235510 Hennekam lymphangiectasia-lymphedema syndrome semapv:UnspecifiedMatching -MONDO:0016293 skos:exactMatch omim.ps:310500 Night blindness, congenital stationary semapv:UnspecifiedMatching +MONDO:0016166 skos:exactMatch OMIMPS:145000 Hyperparathyroidism semapv:UnspecifiedMatching +MONDO:0016215 skos:exactMatch OMIMPS:612900 Spastic quadriplegic cerebral palsy semapv:UnspecifiedMatching +MONDO:0016227 skos:exactMatch OMIMPS:160120 Episodic ataxia semapv:UnspecifiedMatching +MONDO:0016241 skos:exactMatch OMIMPS:104290 Alternating hemiplegia of childhood semapv:UnspecifiedMatching +MONDO:0016256 skos:exactMatch OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome semapv:UnspecifiedMatching +MONDO:0016293 skos:exactMatch OMIMPS:310500 Night blindness, congenital stationary semapv:UnspecifiedMatching MONDO:0016294 skos:exactMatch OMIM:306980 hirschsprung disease with type d brachydactyly semapv:UnspecifiedMatching -MONDO:0016295 skos:exactMatch omim.ps:256730 Ceroid lipofuscinoses semapv:UnspecifiedMatching -MONDO:0016296 skos:exactMatch omim.ps:236100 Holoprosencephaly semapv:UnspecifiedMatching -MONDO:0016333 skos:exactMatch omim.ps:115200 Dilated cardiomyopathy semapv:UnspecifiedMatching -MONDO:0016340 skos:exactMatch omim.ps:115210 Familial restrictive cardiomyopathy semapv:UnspecifiedMatching -MONDO:0016342 skos:exactMatch omim.ps:107970 Arrhythmogenic right ventricular dysplasia semapv:UnspecifiedMatching -MONDO:0016349 skos:exactMatch omim.ps:236600 Hydrocephalus, congenital semapv:UnspecifiedMatching +MONDO:0016295 skos:exactMatch OMIMPS:256730 Ceroid lipofuscinoses semapv:UnspecifiedMatching +MONDO:0016296 skos:exactMatch OMIMPS:236100 Holoprosencephaly semapv:UnspecifiedMatching +MONDO:0016333 skos:exactMatch OMIMPS:115200 Dilated cardiomyopathy semapv:UnspecifiedMatching +MONDO:0016340 skos:exactMatch OMIMPS:115210 Familial restrictive cardiomyopathy semapv:UnspecifiedMatching +MONDO:0016342 skos:exactMatch OMIMPS:107970 Arrhythmogenic right ventricular dysplasia semapv:UnspecifiedMatching +MONDO:0016349 skos:exactMatch OMIMPS:236600 Hydrocephalus, congenital semapv:UnspecifiedMatching MONDO:0016368 skos:exactMatch OMIM:618625 rothmund-thomson syndrome, type 1 semapv:UnspecifiedMatching MONDO:0016369 skos:exactMatch OMIM:268400 rothmund-thomson syndrome, type 2 semapv:UnspecifiedMatching MONDO:0016381 skos:exactMatch OMIM:145700 hypertrichosis lanuginosa congenita semapv:UnspecifiedMatching -MONDO:0016390 skos:exactMatch omim.ps:146200 Hypoparathyroidism, familial semapv:UnspecifiedMatching +MONDO:0016390 skos:exactMatch OMIMPS:146200 Hypoparathyroidism, familial semapv:UnspecifiedMatching MONDO:0016419 skos:exactMatch OMIM:114480 breast cancer semapv:UnspecifiedMatching -MONDO:0016470 skos:exactMatch omim.ps:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome semapv:UnspecifiedMatching -MONDO:0016471 skos:exactMatch omim.ps:167200 Pachyonychia congenita semapv:UnspecifiedMatching -MONDO:0016473 skos:exactMatch omim.ps:609322 Rhabdoid tumor predisposition syndrome semapv:UnspecifiedMatching -MONDO:0016483 skos:exactMatch omim.ps:105800 Aneurysm, intracranial berry semapv:UnspecifiedMatching -MONDO:0016512 skos:exactMatch omim.ps:147920 Kabuki syndrome semapv:UnspecifiedMatching -MONDO:0016516 skos:exactMatch omim.ps:127000 Kenny-Caffey syndrome semapv:UnspecifiedMatching -MONDO:0016525 skos:exactMatch omim.ps:103900 Hyperaldosteronism semapv:UnspecifiedMatching +MONDO:0016470 skos:exactMatch OMIMPS:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome semapv:UnspecifiedMatching +MONDO:0016471 skos:exactMatch OMIMPS:167200 Pachyonychia congenita semapv:UnspecifiedMatching +MONDO:0016473 skos:exactMatch OMIMPS:609322 Rhabdoid tumor predisposition syndrome semapv:UnspecifiedMatching +MONDO:0016483 skos:exactMatch OMIMPS:105800 Aneurysm, intracranial berry semapv:UnspecifiedMatching +MONDO:0016512 skos:exactMatch OMIMPS:147920 Kabuki syndrome semapv:UnspecifiedMatching +MONDO:0016516 skos:exactMatch OMIMPS:127000 Kenny-Caffey syndrome semapv:UnspecifiedMatching +MONDO:0016525 skos:exactMatch OMIMPS:103900 Hyperaldosteronism semapv:UnspecifiedMatching MONDO:0016532 skos:exactMatch OMIM:606369 macrocephaly and epileptic encephalopathy semapv:UnspecifiedMatching -MONDO:0016537 skos:exactMatch omim.ps:308240 Lymphoproliferative syndrome semapv:UnspecifiedMatching -MONDO:0016558 skos:exactMatch omim.ps:157600 Mirror movements semapv:UnspecifiedMatching -MONDO:0016575 skos:exactMatch omim.ps:244400 Primary ciliary dyskinesia semapv:UnspecifiedMatching -MONDO:0016576 skos:exactMatch omim.ps:183600 Split-hand/foot malformation semapv:UnspecifiedMatching +MONDO:0016537 skos:exactMatch OMIMPS:308240 Lymphoproliferative syndrome semapv:UnspecifiedMatching +MONDO:0016558 skos:exactMatch OMIMPS:157600 Mirror movements semapv:UnspecifiedMatching +MONDO:0016575 skos:exactMatch OMIMPS:244400 Primary ciliary dyskinesia semapv:UnspecifiedMatching +MONDO:0016576 skos:exactMatch OMIMPS:183600 Split-hand/foot malformation semapv:UnspecifiedMatching MONDO:0016581 skos:exactMatch OMIM:217095 conotruncal heart malformations semapv:UnspecifiedMatching -MONDO:0016584 skos:exactMatch omim.ps:248370 Mandibuloacral dysplasia with lipodystrophy semapv:UnspecifiedMatching -MONDO:0016596 skos:exactMatch omim.ps:239300 Hyperphosphatasia with mental retardation syndrome semapv:UnspecifiedMatching -MONDO:0016620 skos:exactMatch omim.ps:259100 Hypertropic osteoarthropathy, primary semapv:UnspecifiedMatching -MONDO:0016643 skos:exactMatch omim.ps:136760 Frontonasal dysplasia semapv:UnspecifiedMatching -MONDO:0016648 skos:exactMatch omim.ps:132400 Epiphyseal dysplasia, multiple semapv:UnspecifiedMatching -MONDO:0016649 skos:exactMatch omim.ps:600118 Warburg micro syndrome semapv:UnspecifiedMatching -MONDO:0016660 skos:exactMatch omim.ps:251200 Microcephaly, primary semapv:UnspecifiedMatching +MONDO:0016584 skos:exactMatch OMIMPS:248370 Mandibuloacral dysplasia with lipodystrophy semapv:UnspecifiedMatching +MONDO:0016596 skos:exactMatch OMIMPS:239300 Hyperphosphatasia with mental retardation syndrome semapv:UnspecifiedMatching +MONDO:0016620 skos:exactMatch OMIMPS:259100 Hypertropic osteoarthropathy, primary semapv:UnspecifiedMatching +MONDO:0016643 skos:exactMatch OMIMPS:136760 Frontonasal dysplasia semapv:UnspecifiedMatching +MONDO:0016648 skos:exactMatch OMIMPS:132400 Epiphyseal dysplasia, multiple semapv:UnspecifiedMatching +MONDO:0016649 skos:exactMatch OMIMPS:600118 Warburg micro syndrome semapv:UnspecifiedMatching +MONDO:0016660 skos:exactMatch OMIMPS:251200 Microcephaly, primary semapv:UnspecifiedMatching MONDO:0016675 skos:exactMatch OMIM:187370 arthrogryposis, distal, type 10 semapv:UnspecifiedMatching -MONDO:0016763 skos:exactMatch omim.ps:184255 Spondylometaphyseal dysplasia semapv:UnspecifiedMatching -MONDO:0016817 skos:exactMatch omim.ps:224690 Meier-Gorlin syndrome semapv:UnspecifiedMatching -MONDO:0016820 skos:exactMatch omim.ps:252350 Moyamoya disease semapv:UnspecifiedMatching -MONDO:0016824 skos:exactMatch omim.ps:228550 Infantile myofibromatosis semapv:UnspecifiedMatching +MONDO:0016763 skos:exactMatch OMIMPS:184255 Spondylometaphyseal dysplasia semapv:UnspecifiedMatching +MONDO:0016817 skos:exactMatch OMIMPS:224690 Meier-Gorlin syndrome semapv:UnspecifiedMatching +MONDO:0016820 skos:exactMatch OMIMPS:252350 Moyamoya disease semapv:UnspecifiedMatching +MONDO:0016824 skos:exactMatch OMIMPS:228550 Infantile myofibromatosis semapv:UnspecifiedMatching MONDO:0016825 skos:exactMatch OMIM:251950 mitochondrial myopathy with lactic acidosis semapv:UnspecifiedMatching -MONDO:0016826 skos:exactMatch omim.ps:277400 Methylmalonic aciduria and homocystinuria semapv:UnspecifiedMatching -MONDO:0016830 skos:exactMatch omim.ps:310300 Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching +MONDO:0016826 skos:exactMatch OMIMPS:277400 Methylmalonic aciduria and homocystinuria semapv:UnspecifiedMatching +MONDO:0016830 skos:exactMatch OMIMPS:310300 Emery-Dreifuss muscular dystrophy semapv:UnspecifiedMatching MONDO:0016862 skos:exactMatch OMIM:118450 alagille syndrome 1 semapv:UnspecifiedMatching -MONDO:0017123 skos:exactMatch omim.ps:208085 Arthrogryposis, renal dysfunction, and cholestasis semapv:UnspecifiedMatching -MONDO:0017136 skos:exactMatch omim.ps:258315 Omodysplasia semapv:UnspecifiedMatching -MONDO:0017148 skos:exactMatch omim.ps:178600 Pulmonary hypertension, primary (see also hereditary hemorrhagic telangiectasia ({PS187300}) semapv:UnspecifiedMatching -MONDO:0017161 skos:exactMatch omim.ps:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis semapv:UnspecifiedMatching -MONDO:0017169 skos:exactMatch omim.ps:131100 Multiple endocrine neoplasia semapv:UnspecifiedMatching -MONDO:0017195 skos:exactMatch omim.ps:259450 Bruck syndrome semapv:UnspecifiedMatching -MONDO:0017265 skos:exactMatch omim.ps:242300 Ichthyosis, congenital, autosomal recessive semapv:UnspecifiedMatching -MONDO:0017312 skos:exactMatch omim.ps:233400 Perrault syndrome semapv:UnspecifiedMatching -MONDO:0017329 skos:exactMatch omim.ps:193000 Vesicoureteral reflux semapv:UnspecifiedMatching -MONDO:0017338 skos:exactMatch omim.ps:605711 Multiple mitochondrial dysfunctions syndrome semapv:UnspecifiedMatching -MONDO:0017359 skos:exactMatch omim.ps:250950 3-Methylglutaconic aciduria semapv:UnspecifiedMatching +MONDO:0017123 skos:exactMatch OMIMPS:208085 Arthrogryposis, renal dysfunction, and cholestasis semapv:UnspecifiedMatching +MONDO:0017136 skos:exactMatch OMIMPS:258315 Omodysplasia semapv:UnspecifiedMatching +MONDO:0017148 skos:exactMatch OMIMPS:178600 Pulmonary hypertension, primary (see also hereditary hemorrhagic telangiectasia ({PS187300}) semapv:UnspecifiedMatching +MONDO:0017161 skos:exactMatch OMIMPS:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis semapv:UnspecifiedMatching +MONDO:0017169 skos:exactMatch OMIMPS:131100 Multiple endocrine neoplasia semapv:UnspecifiedMatching +MONDO:0017195 skos:exactMatch OMIMPS:259450 Bruck syndrome semapv:UnspecifiedMatching +MONDO:0017265 skos:exactMatch OMIMPS:242300 Ichthyosis, congenital, autosomal recessive semapv:UnspecifiedMatching +MONDO:0017312 skos:exactMatch OMIMPS:233400 Perrault syndrome semapv:UnspecifiedMatching +MONDO:0017329 skos:exactMatch OMIMPS:193000 Vesicoureteral reflux semapv:UnspecifiedMatching +MONDO:0017338 skos:exactMatch OMIMPS:605711 Multiple mitochondrial dysfunctions syndrome semapv:UnspecifiedMatching +MONDO:0017359 skos:exactMatch OMIMPS:250950 3-Methylglutaconic aciduria semapv:UnspecifiedMatching MONDO:0017380 skos:exactMatch OMIM:174900 juvenile polyposis syndrome semapv:UnspecifiedMatching -MONDO:0017398 skos:exactMatch omim.ps:257920 3MC syndrome semapv:UnspecifiedMatching +MONDO:0017398 skos:exactMatch OMIMPS:257920 3MC syndrome semapv:UnspecifiedMatching MONDO:0017400 skos:exactMatch OMIM:615710 mitchell-riley syndrome semapv:UnspecifiedMatching -MONDO:0017411 skos:exactMatch omim.ps:614328 semapv:UnspecifiedMatching -MONDO:0017417 skos:exactMatch omim.ps:208540 Renal-hepatic-pancreatic dysplasia semapv:UnspecifiedMatching -MONDO:0017425 skos:exactMatch omim.ps:174400 Polydactyly, preaxial semapv:UnspecifiedMatching -MONDO:0017436 skos:exactMatch omim.ps:253310 Lethal congenital contracture syndrome semapv:UnspecifiedMatching +MONDO:0017411 skos:exactMatch OMIMPS:614328 semapv:UnspecifiedMatching +MONDO:0017417 skos:exactMatch OMIMPS:208540 Renal-hepatic-pancreatic dysplasia semapv:UnspecifiedMatching +MONDO:0017425 skos:exactMatch OMIMPS:174400 Polydactyly, preaxial semapv:UnspecifiedMatching +MONDO:0017436 skos:exactMatch OMIMPS:253310 Lethal congenital contracture syndrome semapv:UnspecifiedMatching MONDO:0017454 skos:exactMatch OMIM:190605 triphalangeal thumb with polysyndactyly semapv:UnspecifiedMatching -MONDO:0017579 skos:exactMatch omim.ps:243310 Baraitser-Winter syndrome semapv:UnspecifiedMatching -MONDO:0017610 skos:exactMatch omim.ps:131760 Epidermolysis Bullosa Simplex semapv:UnspecifiedMatching -MONDO:0017612 skos:exactMatch omim.ps:226650 Epidermolysis bullosa, junctional semapv:UnspecifiedMatching -MONDO:0017615 skos:exactMatch omim.ps:601764 Seizures, benign familial infantile semapv:UnspecifiedMatching +MONDO:0017579 skos:exactMatch OMIMPS:243310 Baraitser-Winter syndrome semapv:UnspecifiedMatching +MONDO:0017610 skos:exactMatch OMIMPS:131760 Epidermolysis Bullosa Simplex semapv:UnspecifiedMatching +MONDO:0017612 skos:exactMatch OMIMPS:226650 Epidermolysis bullosa, junctional semapv:UnspecifiedMatching +MONDO:0017615 skos:exactMatch OMIMPS:601764 Seizures, benign familial infantile semapv:UnspecifiedMatching MONDO:0017715 skos:exactMatch OMIM:231530 3-hydroxyacyl-coa dehydrogenase deficiency semapv:UnspecifiedMatching MONDO:0017790 skos:exactMatch OMIM:619182 gastric adenocarcinoma and proximal polyposis of the stomach semapv:UnspecifiedMatching -MONDO:0017813 skos:exactMatch omim.ps:601390 Van Maldergem syndrome semapv:UnspecifiedMatching -MONDO:0017824 skos:exactMatch omim.ps:102200 Pituitary adenoma semapv:UnspecifiedMatching -MONDO:0017838 skos:exactMatch omim.ps:269500 Sclerosteosis semapv:UnspecifiedMatching -MONDO:0017842 skos:exactMatch omim.ps:266900 Senior-Loken syndrome semapv:UnspecifiedMatching -MONDO:0017845 skos:exactMatch omim.ps:108600 Spastic ataxia semapv:UnspecifiedMatching -MONDO:0017851 skos:exactMatch omim.ps:133200 Erythrokeratodermia variabilis et progressiva semapv:UnspecifiedMatching -MONDO:0017868 skos:exactMatch omim.ps:251280 Diencephalic-mesencephalic junction dysplasia syndrome semapv:UnspecifiedMatching -MONDO:0017896 skos:exactMatch omim.ps:188550 Thyroid cancer, nonmedullary semapv:UnspecifiedMatching +MONDO:0017813 skos:exactMatch OMIMPS:601390 Van Maldergem syndrome semapv:UnspecifiedMatching +MONDO:0017824 skos:exactMatch OMIMPS:102200 Pituitary adenoma semapv:UnspecifiedMatching +MONDO:0017838 skos:exactMatch OMIMPS:269500 Sclerosteosis semapv:UnspecifiedMatching +MONDO:0017842 skos:exactMatch OMIMPS:266900 Senior-Loken syndrome semapv:UnspecifiedMatching +MONDO:0017845 skos:exactMatch OMIMPS:108600 Spastic ataxia semapv:UnspecifiedMatching +MONDO:0017851 skos:exactMatch OMIMPS:133200 Erythrokeratodermia variabilis et progressiva semapv:UnspecifiedMatching +MONDO:0017868 skos:exactMatch OMIMPS:251280 Diencephalic-mesencephalic junction dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0017896 skos:exactMatch OMIMPS:188550 Thyroid cancer, nonmedullary semapv:UnspecifiedMatching MONDO:0017919 skos:exactMatch OMIM:258040 oeis complex semapv:UnspecifiedMatching -MONDO:0017923 skos:exactMatch omim.ps:186500 Multiple synostoses syndrome semapv:UnspecifiedMatching -MONDO:0017951 skos:exactMatch omim.ps:190350 Trichorhinophalangeal syndrome semapv:UnspecifiedMatching -MONDO:0017990 skos:exactMatch omim.ps:604772 Ventricular tachycardia, catecholaminergic polymorphic semapv:UnspecifiedMatching +MONDO:0017923 skos:exactMatch OMIMPS:186500 Multiple synostoses syndrome semapv:UnspecifiedMatching +MONDO:0017951 skos:exactMatch OMIMPS:190350 Trichorhinophalangeal syndrome semapv:UnspecifiedMatching +MONDO:0017990 skos:exactMatch OMIMPS:604772 Ventricular tachycardia, catecholaminergic polymorphic semapv:UnspecifiedMatching MONDO:0017991 skos:exactMatch OMIM:207600 takayasu arteritis semapv:UnspecifiedMatching MONDO:0017996 skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching MONDO:0018023 skos:exactMatch OMIM:617971 methemoglobinemia, beta type semapv:UnspecifiedMatching -MONDO:0018037 skos:exactMatch omim.ps:147060 Hyper-IgE recurrent infection syndrome semapv:UnspecifiedMatching -MONDO:0018053 skos:exactMatch omim.ps:601675 Trichothiodystrophy semapv:UnspecifiedMatching -MONDO:0018054 skos:exactMatch omim.ps:608583 Atrial fibrillation, familial semapv:UnspecifiedMatching -MONDO:0018065 skos:exactMatch omim.ps:190440 Trigonocephaly, isolated semapv:UnspecifiedMatching -MONDO:0018094 skos:exactMatch omim.ps:193500 Waardenburg syndrome semapv:UnspecifiedMatching -MONDO:0018096 skos:exactMatch omim.ps:277600 Weill-Marchesani syndrome semapv:UnspecifiedMatching -MONDO:0018100 skos:exactMatch omim.ps:602014 Hypomagnesemia semapv:UnspecifiedMatching -MONDO:0018106 skos:exactMatch omim.ps:278300 Xanthinuria semapv:UnspecifiedMatching -MONDO:0018116 skos:exactMatch omim.ps:230400 Galactosemia semapv:UnspecifiedMatching +MONDO:0018037 skos:exactMatch OMIMPS:147060 Hyper-IgE recurrent infection syndrome semapv:UnspecifiedMatching +MONDO:0018053 skos:exactMatch OMIMPS:601675 Trichothiodystrophy semapv:UnspecifiedMatching +MONDO:0018054 skos:exactMatch OMIMPS:608583 Atrial fibrillation, familial semapv:UnspecifiedMatching +MONDO:0018065 skos:exactMatch OMIMPS:190440 Trigonocephaly, isolated semapv:UnspecifiedMatching +MONDO:0018094 skos:exactMatch OMIMPS:193500 Waardenburg syndrome semapv:UnspecifiedMatching +MONDO:0018096 skos:exactMatch OMIMPS:277600 Weill-Marchesani syndrome semapv:UnspecifiedMatching +MONDO:0018100 skos:exactMatch OMIMPS:602014 Hypomagnesemia semapv:UnspecifiedMatching +MONDO:0018106 skos:exactMatch OMIMPS:278300 Xanthinuria semapv:UnspecifiedMatching +MONDO:0018116 skos:exactMatch OMIMPS:230400 Galactosemia semapv:UnspecifiedMatching MONDO:0018130 skos:exactMatch OMIM:618049 parkinsonism-dystonia 2, infantile-onset semapv:UnspecifiedMatching MONDO:0018138 skos:exactMatch OMIM:103470 semapv:UnspecifiedMatching -MONDO:0018151 skos:exactMatch omim.ps:607426 Coenzyme Q10 deficiency, primary semapv:UnspecifiedMatching -MONDO:0018158 skos:exactMatch omim.ps:603041 Mitochondrial DNA depletion syndrome semapv:UnspecifiedMatching +MONDO:0018151 skos:exactMatch OMIMPS:607426 Coenzyme Q10 deficiency, primary semapv:UnspecifiedMatching +MONDO:0018158 skos:exactMatch OMIMPS:603041 Mitochondrial DNA depletion syndrome semapv:UnspecifiedMatching MONDO:0018160 skos:exactMatch OMIM:180200 retinoblastoma semapv:UnspecifiedMatching MONDO:0018163 skos:exactMatch OMIM:219200 cutis laxa, autosomal recessive, type 2a semapv:UnspecifiedMatching -MONDO:0018190 skos:exactMatch omim.ps:158600 Spinal muscular atrophy, lower extremity-predominant semapv:UnspecifiedMatching -MONDO:0018214 skos:exactMatch omim.ps:604233 Epilepsy, generalized, with febrile seizures plus semapv:UnspecifiedMatching +MONDO:0018190 skos:exactMatch OMIMPS:158600 Spinal muscular atrophy, lower extremity-predominant semapv:UnspecifiedMatching +MONDO:0018214 skos:exactMatch OMIMPS:604233 Epilepsy, generalized, with febrile seizures plus semapv:UnspecifiedMatching MONDO:0018229 skos:exactMatch OMIM:608579 severe cutaneous adverse reaction, susceptibility to semapv:UnspecifiedMatching MONDO:0018264 skos:exactMatch OMIM:113750 albinism, oculocutaneous, type 6 semapv:UnspecifiedMatching MONDO:0018274 skos:exactMatch OMIM:609056 salt and pepper developmental regression syndrome semapv:UnspecifiedMatching -MONDO:0018305 skos:exactMatch omim.ps:306400 Granulomatous disease, chronic semapv:UnspecifiedMatching -MONDO:0018306 skos:exactMatch omim.ps:214450 Griscelli syndrome semapv:UnspecifiedMatching -MONDO:0018307 skos:exactMatch omim.ps:234200 Neurodegeneration with brain iron accumulation semapv:UnspecifiedMatching -MONDO:0018309 skos:exactMatch omim.ps:142623 Hirschsprung disease semapv:UnspecifiedMatching +MONDO:0018305 skos:exactMatch OMIMPS:306400 Granulomatous disease, chronic semapv:UnspecifiedMatching +MONDO:0018306 skos:exactMatch OMIMPS:214450 Griscelli syndrome semapv:UnspecifiedMatching +MONDO:0018307 skos:exactMatch OMIMPS:234200 Neurodegeneration with brain iron accumulation semapv:UnspecifiedMatching +MONDO:0018309 skos:exactMatch OMIMPS:142623 Hirschsprung disease semapv:UnspecifiedMatching MONDO:0018310 skos:exactMatch OMIM:604856 langerhans cell histiocytosis semapv:UnspecifiedMatching -MONDO:0018319 skos:exactMatch omim.ps:615040 Familial episodic pain syndrome semapv:UnspecifiedMatching +MONDO:0018319 skos:exactMatch OMIMPS:615040 Familial episodic pain syndrome semapv:UnspecifiedMatching MONDO:0018346 skos:exactMatch OMIM:301072 neurodevelopmental disorder with epilepsy and hemochromatosis semapv:UnspecifiedMatching -MONDO:0018363 skos:exactMatch omim.ps:136500 Focal facial dermal dysplasia semapv:UnspecifiedMatching +MONDO:0018363 skos:exactMatch OMIMPS:136500 Focal facial dermal dysplasia semapv:UnspecifiedMatching MONDO:0018382 skos:exactMatch OMIM:182260 slipped femoral capital epiphyses semapv:UnspecifiedMatching MONDO:0018445 skos:exactMatch OMIM:618272 global developmental delay, lung cysts, overgrowth, and wilms tumor semapv:UnspecifiedMatching -MONDO:0018458 skos:exactMatch omim.ps:145980 Hypocalciuric hypercalcemia semapv:UnspecifiedMatching -MONDO:0018470 skos:exactMatch omim.ps:191830 Renal hypodysplasia/aplasia semapv:UnspecifiedMatching +MONDO:0018458 skos:exactMatch OMIMPS:145980 Hypocalciuric hypercalcemia semapv:UnspecifiedMatching +MONDO:0018470 skos:exactMatch OMIMPS:191830 Renal hypodysplasia/aplasia semapv:UnspecifiedMatching MONDO:0018473 skos:exactMatch OMIM:617347 hyperlipoproteinemia, type 3 semapv:UnspecifiedMatching -MONDO:0018542 skos:exactMatch omim.ps:202700 Neutropenia, severe congenital semapv:UnspecifiedMatching -MONDO:0018543 skos:exactMatch omim.ps:601198 Hypocalcemia semapv:UnspecifiedMatching +MONDO:0018542 skos:exactMatch OMIMPS:202700 Neutropenia, severe congenital semapv:UnspecifiedMatching +MONDO:0018543 skos:exactMatch OMIMPS:601198 Hypocalcemia semapv:UnspecifiedMatching MONDO:0018544 skos:exactMatch OMIM:300100 adrenoleukodystrophy semapv:UnspecifiedMatching -MONDO:0018555 skos:exactMatch omim.ps:147950 Hypogonadotropic hypogonadism with or without anosmia semapv:UnspecifiedMatching +MONDO:0018555 skos:exactMatch OMIMPS:147950 Hypogonadotropic hypogonadism with or without anosmia semapv:UnspecifiedMatching MONDO:0018582 skos:exactMatch OMIM:619290 mahvash disease semapv:UnspecifiedMatching -MONDO:0018630 skos:exactMatch omim.ps:120435 Colorectal cancer, hereditary nonpolyposis semapv:UnspecifiedMatching +MONDO:0018630 skos:exactMatch OMIMPS:120435 Colorectal cancer, hereditary nonpolyposis semapv:UnspecifiedMatching MONDO:0018657 skos:exactMatch OMIM:618373 cancer, alopecia, pigment dyscrasia, onychodystrophy, and keratoderma semapv:UnspecifiedMatching MONDO:0018663 skos:exactMatch OMIM:618019 rhizomelic skeletal dysplasia with or without pelger-huet anomaly semapv:UnspecifiedMatching -MONDO:0018677 skos:exactMatch omim.ps:306955 Heterotaxy, visceral semapv:UnspecifiedMatching +MONDO:0018677 skos:exactMatch OMIMPS:306955 Heterotaxy, visceral semapv:UnspecifiedMatching MONDO:0018690 skos:exactMatch OMIM:103100 adie pupil semapv:UnspecifiedMatching MONDO:0018764 skos:exactMatch OMIM:614833 microcephaly, short stature, and polymicrogyria with or without seizures semapv:UnspecifiedMatching MONDO:0018767 skos:exactMatch OMIM:602079 trimethylaminuria semapv:UnspecifiedMatching -MONDO:0018768 skos:exactMatch omim.ps:120100 Familial cold autoinflammatory syndrome semapv:UnspecifiedMatching -MONDO:0018770 skos:exactMatch omim.ps:208500 Short-rib thoracic dysplasia semapv:UnspecifiedMatching -MONDO:0018772 skos:exactMatch omim.ps:213300 Joubert syndrome semapv:UnspecifiedMatching -MONDO:0018781 skos:exactMatch omim.ps:148210 Keratitis-ichthyosis-deafness syndrome semapv:UnspecifiedMatching +MONDO:0018768 skos:exactMatch OMIMPS:120100 Familial cold autoinflammatory syndrome semapv:UnspecifiedMatching +MONDO:0018770 skos:exactMatch OMIMPS:208500 Short-rib thoracic dysplasia semapv:UnspecifiedMatching +MONDO:0018772 skos:exactMatch OMIMPS:213300 Joubert syndrome semapv:UnspecifiedMatching +MONDO:0018781 skos:exactMatch OMIMPS:148210 Keratitis-ichthyosis-deafness syndrome semapv:UnspecifiedMatching MONDO:0018794 skos:exactMatch OMIM:618372 gastrointestinal ulceration, recurrent, with dysfunctional platelets semapv:UnspecifiedMatching -MONDO:0018801 skos:exactMatch omim.ps:277180 Vas deferens, congenital bilateral aplasia of semapv:UnspecifiedMatching +MONDO:0018801 skos:exactMatch OMIMPS:277180 Vas deferens, congenital bilateral aplasia of semapv:UnspecifiedMatching MONDO:0018805 skos:exactMatch OMIM:603003 bile duct cysts semapv:UnspecifiedMatching MONDO:0018815 skos:exactMatch OMIM:606179 aneurysmal bone cysts semapv:UnspecifiedMatching MONDO:0018816 skos:exactMatch OMIM:617394 sclerosing cholangitis, neonatal semapv:UnspecifiedMatching MONDO:0018820 skos:exactMatch OMIM:616878 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration semapv:UnspecifiedMatching -MONDO:0018827 skos:exactMatch omim.ps:610448 Chilblain lupus semapv:UnspecifiedMatching +MONDO:0018827 skos:exactMatch OMIMPS:610448 Chilblain lupus semapv:UnspecifiedMatching MONDO:0018828 skos:exactMatch OMIM:617397 pseudo-torch syndrome 2 semapv:UnspecifiedMatching -MONDO:0018838 skos:exactMatch omim.ps:607432 Lissencephaly semapv:UnspecifiedMatching -MONDO:0018841 skos:exactMatch omim.ps:607765 Bile acid synthesis defect, congenital semapv:UnspecifiedMatching +MONDO:0018838 skos:exactMatch OMIMPS:607432 Lissencephaly semapv:UnspecifiedMatching +MONDO:0018841 skos:exactMatch OMIMPS:607765 Bile acid synthesis defect, congenital semapv:UnspecifiedMatching MONDO:0018855 skos:exactMatch OMIM:604093 keratosis pilaris atrophicans semapv:UnspecifiedMatching -MONDO:0018866 skos:exactMatch omim.ps:225750 Aicardi-Goutieres syndrome semapv:UnspecifiedMatching -MONDO:0018870 skos:exactMatch omim.ps:208000 Generalized arterial calcification of infancy semapv:UnspecifiedMatching +MONDO:0018866 skos:exactMatch OMIMPS:225750 Aicardi-Goutieres syndrome semapv:UnspecifiedMatching +MONDO:0018870 skos:exactMatch OMIMPS:208000 Generalized arterial calcification of infancy semapv:UnspecifiedMatching MONDO:0018874 skos:exactMatch OMIM:601626 leukemia, acute myeloid semapv:UnspecifiedMatching MONDO:0018875 skos:exactMatch OMIM:151623 li-fraumeni syndrome semapv:UnspecifiedMatching -MONDO:0018878 skos:exactMatch omim.ps:602588 Branchiootic syndrome semapv:UnspecifiedMatching +MONDO:0018878 skos:exactMatch OMIMPS:602588 Branchiootic syndrome semapv:UnspecifiedMatching MONDO:0018881 skos:exactMatch OMIM:614286 myelodysplastic syndrome semapv:UnspecifiedMatching -MONDO:0018901 skos:exactMatch omim.ps:604169 Left ventricular noncompaction semapv:UnspecifiedMatching -MONDO:0018910 skos:exactMatch omim.ps:203100 Oculocutaneous albinism semapv:UnspecifiedMatching +MONDO:0018901 skos:exactMatch OMIMPS:604169 Left ventricular noncompaction semapv:UnspecifiedMatching +MONDO:0018910 skos:exactMatch OMIMPS:203100 Oculocutaneous albinism semapv:UnspecifiedMatching MONDO:0018911 skos:exactMatch OMIM:606391 maturity-onset diabetes of the young semapv:UnspecifiedMatching MONDO:0018919 skos:exactMatch OMIM:174800 mccune-albright syndrome semapv:UnspecifiedMatching -MONDO:0018921 skos:exactMatch omim.ps:249000 Meckel syndrome semapv:UnspecifiedMatching +MONDO:0018921 skos:exactMatch OMIMPS:249000 Meckel syndrome semapv:UnspecifiedMatching MONDO:0018931 skos:exactMatch OMIM:252600 mucolipidosis 3 alpha/beta semapv:UnspecifiedMatching -MONDO:0018940 skos:exactMatch omim.ps:601462 Myasthenic syndrome, congenital semapv:UnspecifiedMatching -MONDO:0018943 skos:exactMatch omim.ps:601419 Myopathy, myofibrillar semapv:UnspecifiedMatching +MONDO:0018940 skos:exactMatch OMIMPS:601462 Myasthenic syndrome, congenital semapv:UnspecifiedMatching +MONDO:0018943 skos:exactMatch OMIMPS:601419 Myopathy, myofibrillar semapv:UnspecifiedMatching MONDO:0018945 skos:exactMatch OMIM:300842 mcleod syndrome semapv:UnspecifiedMatching -MONDO:0018947 skos:exactMatch omim.ps:160150 Myopathy, centronuclear semapv:UnspecifiedMatching -MONDO:0018949 skos:exactMatch omim.ps:160500 Myopathy, distal semapv:UnspecifiedMatching -MONDO:0018950 skos:exactMatch omim.ps:210200 Methylcrotonylglycinuria semapv:UnspecifiedMatching -MONDO:0018953 skos:exactMatch omim.ps:168500 Parietal foramina semapv:UnspecifiedMatching -MONDO:0018954 skos:exactMatch omim.ps:609192 Loeys-Dietz syndrome semapv:UnspecifiedMatching -MONDO:0018958 skos:exactMatch omim.ps:161800 Nemaline myopathy semapv:UnspecifiedMatching +MONDO:0018947 skos:exactMatch OMIMPS:160150 Myopathy, centronuclear semapv:UnspecifiedMatching +MONDO:0018949 skos:exactMatch OMIMPS:160500 Myopathy, distal semapv:UnspecifiedMatching +MONDO:0018950 skos:exactMatch OMIMPS:210200 Methylcrotonylglycinuria semapv:UnspecifiedMatching +MONDO:0018953 skos:exactMatch OMIMPS:168500 Parietal foramina semapv:UnspecifiedMatching +MONDO:0018954 skos:exactMatch OMIMPS:609192 Loeys-Dietz syndrome semapv:UnspecifiedMatching +MONDO:0018958 skos:exactMatch OMIMPS:161800 Nemaline myopathy semapv:UnspecifiedMatching MONDO:0018959 skos:exactMatch OMIM:608390 myotonia, potassium-aggravated semapv:UnspecifiedMatching -MONDO:0018965 skos:exactMatch omim.ps:301050 Alport syndrome semapv:UnspecifiedMatching +MONDO:0018965 skos:exactMatch OMIMPS:301050 Alport syndrome semapv:UnspecifiedMatching MONDO:0018975 skos:exactMatch OMIM:162200 neurofibromatosis, type 1 semapv:UnspecifiedMatching MONDO:0018996 skos:exactMatch OMIM:606002 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 semapv:UnspecifiedMatching -MONDO:0018997 skos:exactMatch omim.ps:163950 Noonan syndrome semapv:UnspecifiedMatching -MONDO:0018998 skos:exactMatch omim.ps:204000 Leber congenital amaurosis semapv:UnspecifiedMatching -MONDO:0019005 skos:exactMatch omim.ps:256100 Nephronophthisis semapv:UnspecifiedMatching -MONDO:0019008 skos:exactMatch omim.ps:243300 Cholestasis, benign recurrent intrahepatic semapv:UnspecifiedMatching -MONDO:0019012 skos:exactMatch omim.ps:201000 Carpenter syndrome semapv:UnspecifiedMatching -MONDO:0019019 skos:exactMatch omim.ps:166200 Osteogenesis imperfecta semapv:UnspecifiedMatching +MONDO:0018997 skos:exactMatch OMIMPS:163950 Noonan syndrome semapv:UnspecifiedMatching +MONDO:0018998 skos:exactMatch OMIMPS:204000 Leber congenital amaurosis semapv:UnspecifiedMatching +MONDO:0019005 skos:exactMatch OMIMPS:256100 Nephronophthisis semapv:UnspecifiedMatching +MONDO:0019008 skos:exactMatch OMIMPS:243300 Cholestasis, benign recurrent intrahepatic semapv:UnspecifiedMatching +MONDO:0019012 skos:exactMatch OMIMPS:201000 Carpenter syndrome semapv:UnspecifiedMatching +MONDO:0019019 skos:exactMatch OMIMPS:166200 Osteogenesis imperfecta semapv:UnspecifiedMatching MONDO:0019023 skos:exactMatch OMIM:154800 mastocytosis, cutaneous semapv:UnspecifiedMatching -MONDO:0019026 skos:exactMatch omim.ps:259700 Osteopetrosis, autosomal recessive semapv:UnspecifiedMatching -MONDO:0019037 skos:exactMatch omim.ps:601104 Supranuclear palsy, progressive semapv:UnspecifiedMatching -MONDO:0019046 skos:exactMatch omim.ps:312080 Leukodystrophy, hypomyelinating semapv:UnspecifiedMatching -MONDO:0019064 skos:exactMatch omim.ps:303350 Spastic paraplegia semapv:UnspecifiedMatching +MONDO:0019026 skos:exactMatch OMIMPS:259700 Osteopetrosis, autosomal recessive semapv:UnspecifiedMatching +MONDO:0019037 skos:exactMatch OMIMPS:601104 Supranuclear palsy, progressive semapv:UnspecifiedMatching +MONDO:0019046 skos:exactMatch OMIMPS:312080 Leukodystrophy, hypomyelinating semapv:UnspecifiedMatching +MONDO:0019064 skos:exactMatch OMIMPS:303350 Spastic paraplegia semapv:UnspecifiedMatching MONDO:0019073 skos:exactMatch OMIM:137940 hypotrichosis-lymphedema-telangiectasia-renal defect syndrome semapv:UnspecifiedMatching -MONDO:0019078 skos:exactMatch omim.ps:220210 Ritscher-Schinzel syndrome semapv:UnspecifiedMatching +MONDO:0019078 skos:exactMatch OMIMPS:220210 Ritscher-Schinzel syndrome semapv:UnspecifiedMatching MONDO:0019107 skos:exactMatch OMIM:268150 rh-null, regulator type semapv:UnspecifiedMatching -MONDO:0019111 skos:exactMatch omim.ps:187950 Thrombocythemia semapv:UnspecifiedMatching +MONDO:0019111 skos:exactMatch OMIMPS:187950 Thrombocythemia semapv:UnspecifiedMatching 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 -MONDO:0019171 skos:exactMatch omim.ps:192500 Long QT syndrome semapv:UnspecifiedMatching -MONDO:0019180 skos:exactMatch omim.ps:187300 Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600}) semapv:UnspecifiedMatching -MONDO:0019181 skos:exactMatch omim.ps:309530 Intellectual developmental disorder, nonsyndromic, X-linked semapv:UnspecifiedMatching +MONDO:0019161 skos:exactMatch OMIMPS:177735 Pseudohypoaldosteronism, type I semapv:UnspecifiedMatching +MONDO:0019162 skos:exactMatch OMIMPS:145260 Pseudohypoaldosteronism, type II semapv:UnspecifiedMatching +MONDO:0019165 skos:exactMatch OMIMPS:176400 Precocious puberty, central semapv:UnspecifiedMatching +MONDO:0019169 skos:exactMatch OMIMPS:312170 Pyruvate dehydrogenase complex deficiency semapv:UnspecifiedMatching +MONDO:0019171 skos:exactMatch OMIMPS:192500 Long QT syndrome semapv:UnspecifiedMatching +MONDO:0019180 skos:exactMatch OMIMPS:187300 Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600}) semapv:UnspecifiedMatching +MONDO:0019181 skos:exactMatch OMIMPS:309530 Intellectual developmental disorder, nonsyndromic, X-linked semapv:UnspecifiedMatching MONDO:0019182 skos:exactMatch OMIM:601665 obesity semapv:UnspecifiedMatching -MONDO:0019187 skos:exactMatch omim.ps:180500 Axenfeld-Rieger syndrome semapv:UnspecifiedMatching -MONDO:0019188 skos:exactMatch omim.ps:180849 Rubinstein-Taybi syndrome semapv:UnspecifiedMatching +MONDO:0019187 skos:exactMatch OMIMPS:180500 Axenfeld-Rieger syndrome semapv:UnspecifiedMatching +MONDO:0019188 skos:exactMatch OMIMPS:180849 Rubinstein-Taybi syndrome semapv:UnspecifiedMatching MONDO:0019200 skos:exactMatch OMIM:268000 retinitis pigmentosa semapv:UnspecifiedMatching -MONDO:0019200 skos:exactMatch omim.ps:268000 Retinitis pigmentosa semapv:UnspecifiedMatching -MONDO:0019201 skos:exactMatch omim.ps:188580 Thyrotoxic periodic paralysis semapv:UnspecifiedMatching -MONDO:0019234 skos:exactMatch omim.ps:214100 Peroxisome biogenesis disorder semapv:UnspecifiedMatching -MONDO:0019249 skos:exactMatch omim.ps:607014 Mucopolysaccharidoses semapv:UnspecifiedMatching -MONDO:0019284 skos:exactMatch omim.ps:161050 Nail disorder, nonsyndromic congenital semapv:UnspecifiedMatching -MONDO:0019287 skos:exactMatch omim.ps:305100 Ectodermal dysplasia (select examples) semapv:UnspecifiedMatching -MONDO:0019312 skos:exactMatch omim.ps:203300 Hermansky-Pudlak syndrome semapv:UnspecifiedMatching -MONDO:0019313 skos:exactMatch omim.ps:153100 Lymphatic malformation semapv:UnspecifiedMatching -MONDO:0019342 skos:exactMatch omim.ps:210600 Seckel syndrome semapv:UnspecifiedMatching -MONDO:0019347 skos:exactMatch omim.ps:270300 Peeling skin syndrome semapv:UnspecifiedMatching +MONDO:0019200 skos:exactMatch OMIMPS:268000 Retinitis pigmentosa semapv:UnspecifiedMatching +MONDO:0019201 skos:exactMatch OMIMPS:188580 Thyrotoxic periodic paralysis semapv:UnspecifiedMatching +MONDO:0019234 skos:exactMatch OMIMPS:214100 Peroxisome biogenesis disorder semapv:UnspecifiedMatching +MONDO:0019249 skos:exactMatch OMIMPS:607014 Mucopolysaccharidoses semapv:UnspecifiedMatching +MONDO:0019284 skos:exactMatch OMIMPS:161050 Nail disorder, nonsyndromic congenital semapv:UnspecifiedMatching +MONDO:0019287 skos:exactMatch OMIMPS:305100 Ectodermal dysplasia (select examples) semapv:UnspecifiedMatching +MONDO:0019312 skos:exactMatch OMIMPS:203300 Hermansky-Pudlak syndrome semapv:UnspecifiedMatching +MONDO:0019313 skos:exactMatch OMIMPS:153100 Lymphatic malformation semapv:UnspecifiedMatching +MONDO:0019342 skos:exactMatch OMIMPS:210600 Seckel syndrome semapv:UnspecifiedMatching +MONDO:0019347 skos:exactMatch OMIMPS:270300 Peeling skin syndrome semapv:UnspecifiedMatching MONDO:0019348 skos:exactMatch OMIM:300537 semapv:UnspecifiedMatching MONDO:0019349 skos:exactMatch OMIM:117550 sotos syndrome semapv:UnspecifiedMatching -MONDO:0019354 skos:exactMatch omim.ps:108300 Stickler syndrome semapv:UnspecifiedMatching -MONDO:0019375 skos:exactMatch omim.ps:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome semapv:UnspecifiedMatching -MONDO:0019391 skos:exactMatch omim.ps:227650 Fanconi anemia semapv:UnspecifiedMatching -MONDO:0019403 skos:exactMatch omim.ps:224120 Anemia, congenital dyserythropoietic semapv:UnspecifiedMatching +MONDO:0019354 skos:exactMatch OMIMPS:108300 Stickler syndrome semapv:UnspecifiedMatching +MONDO:0019375 skos:exactMatch OMIMPS:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome semapv:UnspecifiedMatching +MONDO:0019391 skos:exactMatch OMIMPS:227650 Fanconi anemia semapv:UnspecifiedMatching +MONDO:0019403 skos:exactMatch OMIMPS:224120 Anemia, congenital dyserythropoietic semapv:UnspecifiedMatching MONDO:0019407 skos:exactMatch OMIM:618150 saul-wilson syndrome semapv:UnspecifiedMatching MONDO:0019409 skos:exactMatch OMIM:259750 osteoporosis, juvenile semapv:UnspecifiedMatching MONDO:0019475 skos:exactMatch OMIM:618398 t-cell lymphoma, subcutaneous panniculitis-like semapv:UnspecifiedMatching -MONDO:0019490 skos:exactMatch omim.ps:113900 Progressive familial heart block semapv:UnspecifiedMatching -MONDO:0019501 skos:exactMatch omim.ps:276900 Usher syndrome semapv:UnspecifiedMatching -MONDO:0019502 skos:exactMatch omim.ps:249500 Intellectual developmental disorder, autosomal recessive semapv:UnspecifiedMatching -MONDO:0019503 skos:exactMatch omim.ps:107250 Anterior segment dysgenesis semapv:UnspecifiedMatching -MONDO:0019507 skos:exactMatch omim.ps:104500 Amelogenesis imperfecta semapv:UnspecifiedMatching -MONDO:0019516 skos:exactMatch omim.ps:133780 Exudative vitreoretinopathy semapv:UnspecifiedMatching -MONDO:0019531 skos:exactMatch OMIM:618660 hemolytic anemia due to glutathione reductase deficiency semapv:UnspecifiedMatching +MONDO:0019490 skos:exactMatch OMIMPS:113900 Progressive familial heart block semapv:UnspecifiedMatching +MONDO:0019501 skos:exactMatch OMIMPS:276900 Usher syndrome semapv:UnspecifiedMatching +MONDO:0019502 skos:exactMatch OMIMPS:249500 Intellectual developmental disorder, autosomal recessive semapv:UnspecifiedMatching +MONDO:0019503 skos:exactMatch OMIMPS:107250 Anterior segment dysgenesis semapv:UnspecifiedMatching +MONDO:0019507 skos:exactMatch OMIMPS:104500 Amelogenesis imperfecta semapv:UnspecifiedMatching +MONDO:0019516 skos:exactMatch OMIMPS:133780 Exudative vitreoretinopathy semapv:UnspecifiedMatching +MONDO:0019531 skos:exactMatch OMIM:618660 anemia, congenital, nonspherocytic hemolytic, 10 semapv:UnspecifiedMatching MONDO:0019567 skos:exactMatch OMIM:130000 ehlers-danlos syndrome, classic type, 1 semapv:UnspecifiedMatching MONDO:0019568 skos:exactMatch OMIM:130010 ehlers-danlos syndrome, classic type, 2 semapv:UnspecifiedMatching MONDO:0019569 skos:exactMatch OMIM:216400 Cockayne syndrome a semapv:UnspecifiedMatching MONDO:0019570 skos:exactMatch OMIM:133540 Cockayne syndrome B semapv:UnspecifiedMatching -MONDO:0019587 skos:exactMatch omim.ps:124900 Deafness, autosomal dominant semapv:UnspecifiedMatching +MONDO:0019587 skos:exactMatch OMIMPS:124900 Deafness, autosomal dominant semapv:UnspecifiedMatching MONDO:0019588 skos:exactMatch OMIM:607197 deafness, autosomal recessive semapv:UnspecifiedMatching -MONDO:0019588 skos:exactMatch omim.ps:220290 Deafness, autosomal recessive semapv:UnspecifiedMatching -MONDO:0019623 skos:exactMatch omim.ps:106100 Angioedema, Hereditary semapv:UnspecifiedMatching -MONDO:0019625 skos:exactMatch omim.ps:607086 Aortic aneurysm, familial thoracic semapv:UnspecifiedMatching -MONDO:0019631 skos:exactMatch omim.ps:221900 Persistent hyperplastic primary vitreous semapv:UnspecifiedMatching -MONDO:0019648 skos:exactMatch omim.ps:200600 Achondrogenesis semapv:UnspecifiedMatching +MONDO:0019588 skos:exactMatch OMIMPS:220290 Deafness, autosomal recessive semapv:UnspecifiedMatching +MONDO:0019623 skos:exactMatch OMIMPS:106100 Angioedema, Hereditary semapv:UnspecifiedMatching +MONDO:0019625 skos:exactMatch OMIMPS:607086 Aortic aneurysm, familial thoracic semapv:UnspecifiedMatching +MONDO:0019631 skos:exactMatch OMIMPS:221900 Persistent hyperplastic primary vitreous semapv:UnspecifiedMatching +MONDO:0019648 skos:exactMatch OMIMPS:200600 Achondrogenesis semapv:UnspecifiedMatching MONDO:0019666 skos:exactMatch OMIM:612847 brachyolmia type 4 with mild epiphyseal and metaphyseal changes semapv:UnspecifiedMatching -MONDO:0019675 skos:exactMatch omim.ps:271640 Spondyloepimetaphyseal dysplasia with joint laxity semapv:UnspecifiedMatching -MONDO:0019696 skos:exactMatch omim.ps:602875 Acromesomelic dysplasia semapv:UnspecifiedMatching -MONDO:0019719 skos:exactMatch omim.ps:610805 Congenital anomalies of kidney and urinary tract semapv:UnspecifiedMatching -MONDO:0019797 skos:exactMatch omim.ps:101800 Acrodysostosis semapv:UnspecifiedMatching -MONDO:0019852 skos:exactMatch omim.ps:311360 Premature ovarian failure semapv:UnspecifiedMatching +MONDO:0019675 skos:exactMatch OMIMPS:271640 Spondyloepimetaphyseal dysplasia with joint laxity semapv:UnspecifiedMatching +MONDO:0019696 skos:exactMatch OMIMPS:602875 Acromesomelic dysplasia semapv:UnspecifiedMatching +MONDO:0019719 skos:exactMatch OMIMPS:610805 Congenital anomalies of kidney and urinary tract semapv:UnspecifiedMatching +MONDO:0019797 skos:exactMatch OMIMPS:101800 Acrodysostosis semapv:UnspecifiedMatching +MONDO:0019852 skos:exactMatch OMIMPS:311360 Premature ovarian failure semapv:UnspecifiedMatching MONDO:0019917 skos:exactMatch OMIM:617352 mulchandani-bhoj-conlin syndrome semapv:UnspecifiedMatching -MONDO:0019942 skos:exactMatch omim.ps:108120 Arthrogryposis, distal semapv:UnspecifiedMatching +MONDO:0019942 skos:exactMatch OMIMPS:108120 Arthrogryposis, distal semapv:UnspecifiedMatching MONDO:0019947 skos:exactMatch OMIM:606072 rippling muscle disease 2 semapv:UnspecifiedMatching -MONDO:0019952 skos:exactMatch omim.ps:117000 Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) semapv:UnspecifiedMatching -MONDO:0019978 skos:exactMatch omim.ps:268310 Robinow syndrome semapv:UnspecifiedMatching -MONDO:0020066 skos:exactMatch omim.ps:130000 Ehlers-Danlos syndrome semapv:UnspecifiedMatching -MONDO:0020074 skos:exactMatch omim.ps:254800 Epilepsy, progressive myoclonic semapv:UnspecifiedMatching -MONDO:0020088 skos:exactMatch omim.ps:151660 Lipodystrophy, familial partial semapv:UnspecifiedMatching -MONDO:0020099 skos:exactMatch omim.ps:300751 Anemia, Sideroblastic semapv:UnspecifiedMatching +MONDO:0019952 skos:exactMatch OMIMPS:117000 Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) semapv:UnspecifiedMatching +MONDO:0019978 skos:exactMatch OMIMPS:268310 Robinow syndrome semapv:UnspecifiedMatching +MONDO:0020066 skos:exactMatch OMIMPS:130000 Ehlers-Danlos syndrome semapv:UnspecifiedMatching +MONDO:0020074 skos:exactMatch OMIMPS:254800 Epilepsy, progressive myoclonic semapv:UnspecifiedMatching +MONDO:0020088 skos:exactMatch OMIMPS:151660 Lipodystrophy, familial partial semapv:UnspecifiedMatching +MONDO:0020099 skos:exactMatch OMIMPS:300751 Anemia, Sideroblastic semapv:UnspecifiedMatching MONDO:0020108 skos:exactMatch OMIM:205700 anemia, autoimmune hemolytic semapv:UnspecifiedMatching -MONDO:0020119 skos:exactMatch omim.ps:309510 Intellectual developmental disorder, X-linked syndromic semapv:UnspecifiedMatching -MONDO:0020135 skos:exactMatch omim.ps:607596 Pontocerebellar hypoplasia semapv:UnspecifiedMatching -MONDO:0020290 skos:exactMatch omim.ps:606215 Atrioventricular septal defect semapv:UnspecifiedMatching -MONDO:0020310 skos:exactMatch omim.ps:604364 Epilepsy, familial focal, with variable foci semapv:UnspecifiedMatching -MONDO:0020341 skos:exactMatch omim.ps:300049 Periventricular nodular heterotopia semapv:UnspecifiedMatching -MONDO:0020364 skos:exactMatch omim.ps:122000 Corneal dystrophy, posterior polymorphous semapv:UnspecifiedMatching -MONDO:0020380 skos:exactMatch omim.ps:164400 Spinocerebellar ataxia semapv:UnspecifiedMatching -MONDO:0020381 skos:exactMatch omim.ps:169150 Macular dystrophy, patterned semapv:UnspecifiedMatching +MONDO:0020119 skos:exactMatch OMIMPS:309510 Intellectual developmental disorder, X-linked syndromic semapv:UnspecifiedMatching +MONDO:0020135 skos:exactMatch OMIMPS:607596 Pontocerebellar hypoplasia semapv:UnspecifiedMatching +MONDO:0020290 skos:exactMatch OMIMPS:606215 Atrioventricular septal defect semapv:UnspecifiedMatching +MONDO:0020310 skos:exactMatch OMIMPS:604364 Epilepsy, familial focal, with variable foci semapv:UnspecifiedMatching +MONDO:0020341 skos:exactMatch OMIMPS:300049 Periventricular nodular heterotopia semapv:UnspecifiedMatching +MONDO:0020364 skos:exactMatch OMIMPS:122000 Corneal dystrophy, posterior polymorphous semapv:UnspecifiedMatching +MONDO:0020380 skos:exactMatch OMIMPS:164400 Spinocerebellar ataxia semapv:UnspecifiedMatching +MONDO:0020381 skos:exactMatch OMIMPS:169150 Macular dystrophy, patterned semapv:UnspecifiedMatching MONDO:0020457 skos:exactMatch OMIM:619199 6-phosphogluconate dehydrogenase deficiency semapv:UnspecifiedMatching -MONDO:0020458 skos:exactMatch OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to semapv:UnspecifiedMatching -MONDO:0020480 skos:exactMatch omim.ps:252150 Molybdenum cofactor deficiency semapv:UnspecifiedMatching +MONDO:0020458 skos:exactMatch OMIM:301083 anemia, congenital, nonspherocytic hemolytic, 9 semapv:UnspecifiedMatching +MONDO:0020480 skos:exactMatch OMIMPS:252150 Molybdenum cofactor deficiency semapv:UnspecifiedMatching MONDO:0020485 skos:exactMatch OMIM:619542 king-denborough syndrome semapv:UnspecifiedMatching MONDO:0020495 skos:exactMatch OMIM:617507 peho-like syndrome semapv:UnspecifiedMatching -MONDO:0020496 skos:exactMatch omim.ps:175780 Brain small vessel disease semapv:UnspecifiedMatching +MONDO:0020496 skos:exactMatch OMIMPS:175780 Brain small vessel disease semapv:UnspecifiedMatching MONDO:0020507 skos:exactMatch OMIM:603896 leukoencephalopathy with vanishing white matter 1 semapv:UnspecifiedMatching MONDO:0020602 skos:exactMatch OMIM:312870 simpson-golabi-behmel syndrome, type 1 semapv:UnspecifiedMatching MONDO:0020603 skos:exactMatch OMIM:302960 chondrodysplasia punctata 2, X-linked dominant semapv:UnspecifiedMatching @@ -8119,14 +8119,14 @@ MONDO:0020623 skos:exactMatch OMIM:112000 blood group--ul system semapv:Unspeci MONDO:0020624 skos:exactMatch OMIM:112010 blood group--waldner type semapv:UnspecifiedMatching MONDO:0020625 skos:exactMatch OMIM:112050 blood group--wright antigen semapv:UnspecifiedMatching MONDO:0020626 skos:exactMatch OMIM:112100 yt blood group antigen semapv:UnspecifiedMatching -MONDO:0020627 skos:exactMatch omim.ps:617711 semapv:UnspecifiedMatching +MONDO:0020627 skos:exactMatch OMIMPS:617711 semapv:UnspecifiedMatching MONDO:0020628 skos:exactMatch OMIM:618097 microcephaly, growth restriction, and increased sister chromatid exchange 2 semapv:UnspecifiedMatching -MONDO:0020629 skos:exactMatch omim.ps:210900 Microcephaly, growth restriction and increased sister chromatid exchange semapv:UnspecifiedMatching +MONDO:0020629 skos:exactMatch OMIMPS:210900 Microcephaly, growth restriction and increased sister chromatid exchange semapv:UnspecifiedMatching MONDO:0020630 skos:exactMatch OMIM:617711 developmental and epileptic encephalopathy 91 semapv:UnspecifiedMatching MONDO:0020631 skos:exactMatch OMIM:617829 developmental and epileptic encephalopathy 92 semapv:UnspecifiedMatching MONDO:0020632 skos:exactMatch OMIM:618012 developmental and epileptic encephalopathy 93 semapv:UnspecifiedMatching -MONDO:0020642 skos:exactMatch omim.ps:173900 Polycystic kidney disease semapv:UnspecifiedMatching -MONDO:0020645 skos:exactMatch omim.ps:607634 Osteopetrosis, autosomal dominant semapv:UnspecifiedMatching +MONDO:0020642 skos:exactMatch OMIMPS:173900 Polycystic kidney disease semapv:UnspecifiedMatching +MONDO:0020645 skos:exactMatch OMIMPS:607634 Osteopetrosis, autosomal dominant semapv:UnspecifiedMatching MONDO:0020647 skos:exactMatch OMIM:618142 microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome semapv:UnspecifiedMatching MONDO:0020667 skos:exactMatch OMIM:207410 antley-bixler syndrome without genital anomalies or disordered steroidogenesis semapv:UnspecifiedMatching MONDO:0020668 skos:exactMatch OMIM:600146 semapv:UnspecifiedMatching @@ -8152,7 +8152,7 @@ MONDO:0020727 skos:exactMatch OMIM:616045 combined oxidative phosphorylation de MONDO:0020728 skos:exactMatch OMIM:220150 hypouricemia, renal, 1 semapv:UnspecifiedMatching MONDO:0020729 skos:exactMatch OMIM:601495 agammaglobulinemia 1, autosomal recessive semapv:UnspecifiedMatching MONDO:0020730 skos:exactMatch OMIM:115430 carpal tunnel syndrome 1 semapv:UnspecifiedMatching -MONDO:0020732 skos:exactMatch omim.ps:176670 Progeria semapv:UnspecifiedMatching +MONDO:0020732 skos:exactMatch OMIMPS:176670 Progeria semapv:UnspecifiedMatching MONDO:0020733 skos:exactMatch OMIM:185800 symphalangism, proximal, 1a semapv:UnspecifiedMatching MONDO:0020734 skos:exactMatch OMIM:612874 erythrocyte amp deaminase deficiency semapv:UnspecifiedMatching MONDO:0020735 skos:exactMatch OMIM:219080 acth-independent macronodular adrenal hyperplasia semapv:UnspecifiedMatching @@ -8177,12 +8177,12 @@ MONDO:0020762 skos:exactMatch OMIM:618646 diencephalic-mesencephalic junction d MONDO:0020763 skos:exactMatch OMIM:618332 menke-hennekam syndrome 1 semapv:UnspecifiedMatching MONDO:0020765 skos:exactMatch OMIM:618184 neuropathy, congenital hypomyelinating, 2 semapv:UnspecifiedMatching MONDO:0020766 skos:exactMatch OMIM:618186 neuropathy, congenital hypomyelinating, 3 semapv:UnspecifiedMatching -MONDO:0020768 skos:exactMatch omim.ps:304500 Deafness, X-linked semapv:UnspecifiedMatching +MONDO:0020768 skos:exactMatch OMIMPS:304500 Deafness, X-linked semapv:UnspecifiedMatching MONDO:0020769 skos:exactMatch OMIM:618333 menke-hennekam syndrome 2 semapv:UnspecifiedMatching MONDO:0020770 skos:exactMatch OMIM:618387 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 semapv:UnspecifiedMatching -MONDO:0020771 skos:exactMatch omim.ps:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy semapv:UnspecifiedMatching +MONDO:0020771 skos:exactMatch OMIMPS:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy semapv:UnspecifiedMatching MONDO:0020772 skos:exactMatch OMIM:607631 epilepsy, juvenile absence, susceptibility to, 1 semapv:UnspecifiedMatching -MONDO:0020774 skos:exactMatch omim.ps:618332 Menke-Hennekam syndrome semapv:UnspecifiedMatching +MONDO:0020774 skos:exactMatch OMIMPS:618332 Menke-Hennekam syndrome semapv:UnspecifiedMatching MONDO:0020775 skos:exactMatch OMIM:618005 congenital disorder of glycosylation with defective fucosylation 1 semapv:UnspecifiedMatching MONDO:0020777 skos:exactMatch OMIM:618324 congenital disorder of glycosylation with defective fucosylation 2 semapv:UnspecifiedMatching MONDO:0020778 skos:exactMatch OMIM:617236 cone-rod dystrophy and hearing loss 1 semapv:UnspecifiedMatching @@ -8202,11 +8202,11 @@ MONDO:0020793 skos:exactMatch OMIM:164310 oculopharyngodistal myopathy 1 semapv MONDO:0020795 skos:exactMatch OMIM:618908 silver-russell syndrome 5 semapv:UnspecifiedMatching MONDO:0020796 skos:exactMatch OMIM:180860 silver-russell syndrome 1 semapv:UnspecifiedMatching MONDO:0020798 skos:exactMatch OMIM:618883 hypoparathyroidism, familial isolated, 2 semapv:UnspecifiedMatching -MONDO:0020811 skos:exactMatch omim.ps:124000 Mitochondrial complex III deficiency, nuclear type semapv:UnspecifiedMatching +MONDO:0020811 skos:exactMatch OMIMPS:124000 Mitochondrial complex III deficiency, nuclear type semapv:UnspecifiedMatching MONDO:0020820 skos:exactMatch OMIM:601680 arthrogryposis, distal, type 2b1 semapv:UnspecifiedMatching -MONDO:0020831 skos:exactMatch omim.ps:617660 Vertebral, cardiac, renal, and limb defects syndrome semapv:UnspecifiedMatching +MONDO:0020831 skos:exactMatch OMIMPS:617660 Vertebral, cardiac, renal, and limb defects syndrome semapv:UnspecifiedMatching MONDO:0020835 skos:exactMatch OMIM:617973 methemoglobinemia, alpha type semapv:UnspecifiedMatching -MONDO:0020836 skos:exactMatch omim.ps:209850 Autism, susceptiblity to semapv:UnspecifiedMatching +MONDO:0020836 skos:exactMatch OMIMPS:209850 semapv:UnspecifiedMatching MONDO:0020837 skos:exactMatch OMIM:617996 oocyte/zygote/embryo maturation arrest 5 semapv:UnspecifiedMatching MONDO:0020840 skos:exactMatch OMIM:618042 immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinemia semapv:UnspecifiedMatching MONDO:0020841 skos:exactMatch OMIM:618056 neurodevelopmental disorder with cerebellar atrophy and with or without seizures semapv:UnspecifiedMatching @@ -8224,8 +8224,8 @@ MONDO:0020855 skos:exactMatch OMIM:618115 spermatogenic failure 32 semapv:Unspe MONDO:0020856 skos:exactMatch OMIM:618116 bone marrow failure syndrome 4 semapv:UnspecifiedMatching MONDO:0020857 skos:exactMatch OMIM:618117 ovarian dysgenesis 7 semapv:UnspecifiedMatching MONDO:0020858 skos:exactMatch OMIM:618120 mitochondrial complex 5 (atp synthase) deficiency, nuclear type 5 semapv:UnspecifiedMatching -MONDO:0020927 skos:exactMatch omim.ps:174200 Polydactyly, postaxial semapv:UnspecifiedMatching -MONDO:0020937 skos:exactMatch omim.ps:178110 Contractures, pterygia, and variable skeletal fusions syndrome semapv:UnspecifiedMatching +MONDO:0020927 skos:exactMatch OMIMPS:174200 Polydactyly, postaxial semapv:UnspecifiedMatching +MONDO:0020937 skos:exactMatch OMIMPS:178110 Contractures, pterygia, and variable skeletal fusions syndrome semapv:UnspecifiedMatching MONDO:0021001 skos:exactMatch OMIM:235200 hemochromatosis, type 1 semapv:UnspecifiedMatching MONDO:0021003 skos:exactMatch OMIM:603596 polydactyly semapv:UnspecifiedMatching MONDO:0021011 skos:exactMatch OMIM:118700 chorea, benign hereditary semapv:UnspecifiedMatching @@ -8235,17 +8235,17 @@ MONDO:0021018 skos:exactMatch OMIM:603511 muscular dystrophy, limb-girdle, auto MONDO:0021019 skos:exactMatch OMIM:300500 albinism, ocular, type 1 semapv:UnspecifiedMatching MONDO:0021020 skos:exactMatch OMIM:218800 crigler-najjar syndrome, type 1 semapv:UnspecifiedMatching MONDO:0021021 skos:exactMatch OMIM:122860 craniodiaphyseal dysplasia, autosomal dominant semapv:UnspecifiedMatching -MONDO:0021022 skos:exactMatch omim.ps:149400 Hyperekplexia semapv:UnspecifiedMatching +MONDO:0021022 skos:exactMatch OMIMPS:149400 Hyperekplexia semapv:UnspecifiedMatching MONDO:0021024 skos:exactMatch OMIM:611162 malaria, susceptibility to semapv:UnspecifiedMatching MONDO:0021025 skos:exactMatch OMIM:118900 cirrhosis, familial semapv:UnspecifiedMatching MONDO:0021035 skos:exactMatch OMIM:203650 alopecia-intellectual disability syndrome 1 semapv:UnspecifiedMatching -MONDO:0021055 skos:exactMatch omim.ps:175100 Familial adenomatous polyposis semapv:UnspecifiedMatching +MONDO:0021055 skos:exactMatch OMIMPS:175100 Familial adenomatous polyposis semapv:UnspecifiedMatching MONDO:0021056 skos:exactMatch OMIM:175100 familial adenomatous polyposis 1 semapv:UnspecifiedMatching MONDO:0021083 skos:exactMatch OMIM:135700 fibrosis of extraocular muscles, congenital, 1 semapv:UnspecifiedMatching MONDO:0021093 skos:exactMatch OMIM:218330 cranioectodermal dysplasia 1 semapv:UnspecifiedMatching -MONDO:0021094 skos:exactMatch omim.ps:300755 Immunodeficiency (select examples) semapv:UnspecifiedMatching +MONDO:0021094 skos:exactMatch OMIMPS:300755 Immunodeficiency (select examples) semapv:UnspecifiedMatching MONDO:0021105 skos:exactMatch OMIM:613282 fatty liver disease, susceptibility to, 1 semapv:UnspecifiedMatching -MONDO:0021272 skos:exactMatch omim.ps:223360 Orthostatic hypotension semapv:UnspecifiedMatching +MONDO:0021272 skos:exactMatch OMIMPS:223360 Orthostatic hypotension semapv:UnspecifiedMatching MONDO:0021533 skos:exactMatch OMIM:114900 carcinoid tumors, intestinal semapv:UnspecifiedMatching MONDO:0021547 skos:exactMatch OMIM:617607 amelogenesis imperfecta, type 3b semapv:UnspecifiedMatching MONDO:0021569 skos:exactMatch OMIM:181350 emery-dreifuss muscular dystrophy 2, autosomal dominant semapv:UnspecifiedMatching @@ -8254,7 +8254,7 @@ MONDO:0021573 skos:exactMatch OMIM:616780 oocyte/zygote/embryo maturation arres MONDO:0021574 skos:exactMatch OMIM:617712 oocyte/zygote/embryo maturation arrest 3 semapv:UnspecifiedMatching MONDO:0021575 skos:exactMatch OMIM:617743 oocyte/zygote/embryo maturation arrest 4 semapv:UnspecifiedMatching MONDO:0021582 skos:exactMatch OMIM:150900 lentigines semapv:UnspecifiedMatching -MONDO:0021944 skos:exactMatch omim.ps:609129 Auditory neuropathy semapv:UnspecifiedMatching +MONDO:0021944 skos:exactMatch OMIMPS:609129 Auditory neuropathy semapv:UnspecifiedMatching 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 @@ -8271,11 +8271,11 @@ MONDO:0023692 skos:exactMatch OMIM:620698 maple syrup urine disease, type 1b se MONDO:0023693 skos:exactMatch OMIM:620699 maple syrup urine disease, type 2 semapv:UnspecifiedMatching MONDO:0023807 skos:exactMatch OMIM:157200 midphalangeal hair semapv:UnspecifiedMatching MONDO:0023873 skos:exactMatch OMIM:163955 semapv:UnspecifiedMatching -MONDO:0023880 skos:exactMatch omim.ps:193670 WHIM syndrome semapv:UnspecifiedMatching -MONDO:0023910 skos:exactMatch omim.ps:212720 Martsolf syndrome semapv:UnspecifiedMatching -MONDO:0023961 skos:exactMatch omim.ps:243180 Visceral neuropathy, familial semapv:UnspecifiedMatching -MONDO:0024189 skos:exactMatch omim.ps:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset semapv:UnspecifiedMatching -MONDO:0024193 skos:exactMatch omim.ps:617068 Portal hypertension, noncirrhotic semapv:UnspecifiedMatching +MONDO:0023880 skos:exactMatch OMIMPS:193670 WHIM syndrome semapv:UnspecifiedMatching +MONDO:0023910 skos:exactMatch OMIMPS:212720 Martsolf syndrome semapv:UnspecifiedMatching +MONDO:0023961 skos:exactMatch OMIMPS:243180 Visceral neuropathy, familial semapv:UnspecifiedMatching +MONDO:0024189 skos:exactMatch OMIMPS:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset semapv:UnspecifiedMatching +MONDO:0024193 skos:exactMatch OMIMPS:617068 Portal hypertension, noncirrhotic semapv:UnspecifiedMatching MONDO:0024264 skos:exactMatch OMIM:218700 hypothyroidism, congenital, nongoitrous, 2 semapv:UnspecifiedMatching MONDO:0024265 skos:exactMatch OMIM:126800 duane retraction syndrome 1 semapv:UnspecifiedMatching MONDO:0024266 skos:exactMatch OMIM:617039 patent ductus arteriosus 3 semapv:UnspecifiedMatching @@ -8284,7 +8284,7 @@ MONDO:0024309 skos:exactMatch OMIM:201300 neuropathy, hereditary sensory and au MONDO:0024455 skos:exactMatch OMIM:180700 robinow syndrome, autosomal dominant 1 semapv:UnspecifiedMatching MONDO:0024456 skos:exactMatch OMIM:601631 anterior segment dysgenesis 3 semapv:UnspecifiedMatching MONDO:0024457 skos:exactMatch OMIM:256600 neurodegeneration with brain iron accumulation 2a semapv:UnspecifiedMatching -MONDO:0024462 skos:exactMatch omim.ps:155600 Melanoma, cutaneous malignant semapv:UnspecifiedMatching +MONDO:0024462 skos:exactMatch OMIMPS:155600 Melanoma, cutaneous malignant semapv:UnspecifiedMatching MONDO:0024463 skos:exactMatch OMIM:233300 ovarian dysgenesis 1 semapv:UnspecifiedMatching MONDO:0024464 skos:exactMatch OMIM:613038 pituitary hormone deficiency, combined or isolated, 1 semapv:UnspecifiedMatching MONDO:0024465 skos:exactMatch OMIM:610913 surfactant metabolism dysfunction, pulmonary, 2 semapv:UnspecifiedMatching @@ -8293,8 +8293,8 @@ MONDO:0024498 skos:exactMatch OMIM:137800 glioma susceptibility 1 semapv:Unspec MONDO:0024506 skos:exactMatch OMIM:100300 adams-oliver syndrome 1 semapv:UnspecifiedMatching MONDO:0024507 skos:exactMatch OMIM:106210 aniridia 1 semapv:UnspecifiedMatching MONDO:0024508 skos:exactMatch OMIM:613339 epilepsy, hot water, 1 semapv:UnspecifiedMatching -MONDO:0024512 skos:exactMatch omim.ps:106300 Spondyloarthropathy, susceptibility to semapv:UnspecifiedMatching -MONDO:0024516 skos:exactMatch omim.ps:142690 Acne inversa semapv:UnspecifiedMatching +MONDO:0024512 skos:exactMatch OMIMPS:106300 Spondyloarthropathy, susceptibility to semapv:UnspecifiedMatching +MONDO:0024516 skos:exactMatch OMIMPS:142690 Acne inversa semapv:UnspecifiedMatching MONDO:0024517 skos:exactMatch OMIM:162091 schwannomatosis 1 semapv:UnspecifiedMatching MONDO:0024519 skos:exactMatch OMIM:191830 renal hypodysplasia/aplasia 1 semapv:UnspecifiedMatching MONDO:0024520 skos:exactMatch OMIM:617805 renal hypodysplasia/aplasia 3 semapv:UnspecifiedMatching @@ -8348,8 +8348,8 @@ MONDO:0024567 skos:exactMatch OMIM:615419 hypotonia, infantile, with psychomoto MONDO:0024568 skos:exactMatch OMIM:615438 infantile liver failure syndrome 1 semapv:UnspecifiedMatching MONDO:0024569 skos:exactMatch OMIM:616648 optic atrophy 8 semapv:UnspecifiedMatching MONDO:0024570 skos:exactMatch OMIM:617343 hyperparathyroidism 4 semapv:UnspecifiedMatching -MONDO:0024573 skos:exactMatch omim.ps:192600 Cardiomyopathy, familial hypertrophic semapv:UnspecifiedMatching -MONDO:0024607 skos:exactMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability semapv:UnspecifiedMatching +MONDO:0024573 skos:exactMatch OMIMPS:192600 Cardiomyopathy, familial hypertrophic semapv:UnspecifiedMatching +MONDO:0024607 skos:exactMatch OMIM:617404 muscular dystrophy, congenital, with cataracts and impaired intellectual development semapv:UnspecifiedMatching MONDO:0024633 skos:exactMatch OMIM:608026 hypertensive nephropathy semapv:UnspecifiedMatching MONDO:0024770 skos:exactMatch OMIM:301074 autoinflammatory syndrome, familial, x-linked, behcet-like 2 semapv:UnspecifiedMatching MONDO:0024771 skos:exactMatch OMIM:301075 myopathy, distal, 7, adult-onset, X-linked semapv:UnspecifiedMatching @@ -8358,12 +8358,12 @@ MONDO:0024773 skos:exactMatch OMIM:301077 spermatogenic failure, x-linked, 4 se MONDO:0024777 skos:exactMatch OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked semapv:UnspecifiedMatching MONDO:0024781 skos:exactMatch OMIM:301082 immunodeficiency 102 semapv:UnspecifiedMatching MONDO:0024996 skos:exactMatch OMIM:276905 semapv:UnspecifiedMatching -MONDO:0025193 skos:exactMatch omim.ps:164310 Oculopharyngodistal myopathy semapv:UnspecifiedMatching +MONDO:0025193 skos:exactMatch OMIMPS:164310 Oculopharyngodistal myopathy semapv:UnspecifiedMatching MONDO:0025351 skos:exactMatch OMIM:301056 multiple congenital anomalies-neurodevelopmental syndrome, X-linked semapv:UnspecifiedMatching MONDO:0025353 skos:exactMatch OMIM:301058 developmental and epileptic encephalopathy 90 semapv:UnspecifiedMatching MONDO:0025354 skos:exactMatch OMIM:301059 spermatogenic failure, x-linked, 3 semapv:UnspecifiedMatching MONDO:0025356 skos:exactMatch OMIM:301060 azoospermia, obstructive, with nephrolithiasis semapv:UnspecifiedMatching -MONDO:0025445 skos:exactMatch omim.ps:314580 Wieacker-Wolff syndrome semapv:UnspecifiedMatching +MONDO:0025445 skos:exactMatch OMIMPS:314580 Wieacker-Wolff syndrome semapv:UnspecifiedMatching MONDO:0025622 skos:exactMatch OMIM:500013 charcot-marie-tooth disease, axonal, mitochondrial form, 1 semapv:UnspecifiedMatching MONDO:0025690 skos:exactMatch OMIM:619278 microcephaly, epilepsy, and diabetes syndrome 2 semapv:UnspecifiedMatching MONDO:0025691 skos:exactMatch OMIM:619291 dystonia 30 semapv:UnspecifiedMatching @@ -8372,7 +8372,7 @@ MONDO:0025701 skos:exactMatch OMIM:619328 leukodystrophy, hypomyelinating, 22 s MONDO:0025708 skos:exactMatch OMIM:619351 megacystis-microcolon-intestinal hypoperistalsis syndrome 2 semapv:UnspecifiedMatching MONDO:0025712 skos:exactMatch OMIM:619360 angioedema, hereditary, 4 semapv:UnspecifiedMatching MONDO:0025713 skos:exactMatch OMIM:619366 angioedema, hereditary, 7 semapv:UnspecifiedMatching -MONDO:0025986 skos:exactMatch omim.ps:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:UnspecifiedMatching +MONDO:0025986 skos:exactMatch OMIMPS:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome semapv:UnspecifiedMatching MONDO:0026404 skos:exactMatch OMIM:300087 x inactivation, familial skewed, 1 semapv:UnspecifiedMatching MONDO:0026426 skos:exactMatch OMIM:300179 x inactivation, familial skewed, 2 semapv:UnspecifiedMatching MONDO:0026720 skos:exactMatch OMIM:301020 mitochondrial complex 1 deficiency, nuclear type 12 semapv:UnspecifiedMatching @@ -8505,7 +8505,7 @@ MONDO:0030300 skos:exactMatch OMIM:619371 cardiomyopathy, dilated, 2d semapv:Un MONDO:0030302 skos:exactMatch OMIM:619374 immunodeficiency 81 semapv:UnspecifiedMatching MONDO:0030307 skos:exactMatch OMIM:619380 spermatogenic failure 55 semapv:UnspecifiedMatching MONDO:0030308 skos:exactMatch OMIM:619381 immunodeficiency 82 with systemic inflammation semapv:UnspecifiedMatching -MONDO:0030309 skos:exactMatch omim.ps:619382 Leber hereditary optic neuropathy, autosomal recessive semapv:UnspecifiedMatching +MONDO:0030309 skos:exactMatch OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive semapv:UnspecifiedMatching MONDO:0030311 skos:exactMatch OMIM:619386 combined oxidative phosphorylation deficiency 52 semapv:UnspecifiedMatching MONDO:0030312 skos:exactMatch OMIM:619389 spinocerebellar ataxia, autosomal recessive 29 semapv:UnspecifiedMatching MONDO:0030313 skos:exactMatch OMIM:619396 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 semapv:UnspecifiedMatching @@ -8616,7 +8616,7 @@ MONDO:0030608 skos:exactMatch OMIM:619611 interstitial lung disease 1 semapv:Un MONDO:0030619 skos:exactMatch OMIM:619614 retinitis pigmentosa 92 semapv:UnspecifiedMatching MONDO:0030625 skos:exactMatch OMIM:619647 dyskinesia with orofacial involvement, autosomal recessive semapv:UnspecifiedMatching MONDO:0030634 skos:exactMatch OMIM:619661 leukoencephalopathy, hereditary diffuse, with spheroids 2 semapv:UnspecifiedMatching -MONDO:0030639 skos:exactMatch omim.ps:145420 Teebi hypertelorism syndrome semapv:UnspecifiedMatching +MONDO:0030639 skos:exactMatch OMIMPS:145420 Teebi hypertelorism syndrome semapv:UnspecifiedMatching MONDO:0030669 skos:exactMatch OMIM:619708 gastrointestinal defects and immunodeficiency syndrome 2 semapv:UnspecifiedMatching MONDO:0030673 skos:exactMatch OMIM:619735 spastic paraplegia 86, autosomal recessive semapv:UnspecifiedMatching MONDO:0030674 skos:exactMatch OMIM:619736 teebi hypertelorism syndrome 2 semapv:UnspecifiedMatching @@ -8662,7 +8662,7 @@ MONDO:0030770 skos:exactMatch OMIM:619775 congenital disorder of deglycosylatio MONDO:0030781 skos:exactMatch OMIM:619793 restrictive dermopathy 2 semapv:UnspecifiedMatching MONDO:0030785 skos:exactMatch OMIM:619827 intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly semapv:UnspecifiedMatching MONDO:0030787 skos:exactMatch OMIM:619831 spermatogenic failure 71 semapv:UnspecifiedMatching -MONDO:0030796 skos:exactMatch omim.ps:221820 Leukoencephalopathy, hereditary diffuse, with spheroids semapv:UnspecifiedMatching +MONDO:0030796 skos:exactMatch OMIMPS:221820 Leukoencephalopathy, hereditary diffuse, with spheroids semapv:UnspecifiedMatching MONDO:0030797 skos:exactMatch OMIM:619845 retinitis pigmentosa 93 semapv:UnspecifiedMatching MONDO:0030798 skos:exactMatch OMIM:619846 immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias semapv:UnspecifiedMatching MONDO:0030800 skos:exactMatch OMIM:619849 cholestasis, progressive familial intrahepatic, 9 semapv:UnspecifiedMatching @@ -8676,7 +8676,7 @@ MONDO:0030818 skos:exactMatch OMIM:619878 spermatogenic failure 73 semapv:Unspe MONDO:0030819 skos:exactMatch OMIM:619879 meckel syndrome 14 semapv:UnspecifiedMatching MONDO:0030822 skos:exactMatch OMIM:619887 renal hypodysplasia/aplasia 4 semapv:UnspecifiedMatching MONDO:0030827 skos:exactMatch OMIM:619840 macrothrombocytopenia, isolated, 2, autosomal dominant semapv:UnspecifiedMatching -MONDO:0030831 skos:exactMatch omim.ps:243150 Gastrointestinal defect and immunodeficiency syndrome semapv:UnspecifiedMatching +MONDO:0030831 skos:exactMatch OMIMPS:243150 Gastrointestinal defect and immunodeficiency syndrome semapv:UnspecifiedMatching MONDO:0030835 skos:exactMatch OMIM:619090 developmental delay, impaired growth, dysmorphic facies, and axonal neuropathy semapv:UnspecifiedMatching MONDO:0030837 skos:exactMatch OMIM:619092 neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities semapv:UnspecifiedMatching MONDO:0030839 skos:exactMatch OMIM:619855 thyroid hormone metabolism, abnormal, 2 semapv:UnspecifiedMatching @@ -8816,7 +8816,7 @@ MONDO:0031021 skos:exactMatch OMIM:619970 developmental and epileptic encephalo MONDO:0031028 skos:exactMatch OMIM:619983 developmental and epileptic encephalopathy 105 with hypopituitarism semapv:UnspecifiedMatching MONDO:0031030 skos:exactMatch OMIM:619986 immunodeficiency 107, susceptibility to invasive staphylococcus aureus infection semapv:UnspecifiedMatching MONDO:0031031 skos:exactMatch OMIM:619988 intellectual developmental disorder, autosomal recessive 77 semapv:UnspecifiedMatching -MONDO:0031037 skos:exactMatch omim.ps:116860 Cerebral cavernous malformations semapv:UnspecifiedMatching +MONDO:0031037 skos:exactMatch OMIMPS:116860 Cerebral cavernous malformations semapv:UnspecifiedMatching MONDO:0031040 skos:exactMatch OMIM:620010 cholestasis, progressive familial intrahepatic, 12 semapv:UnspecifiedMatching MONDO:0031043 skos:exactMatch OMIM:620014 lymphatic malformation 12 semapv:UnspecifiedMatching MONDO:0031044 skos:exactMatch OMIM:620015 advance sleep phase syndrome, familial, 4 semapv:UnspecifiedMatching @@ -8834,35 +8834,35 @@ MONDO:0031071 skos:exactMatch OMIM:620072 diamond-blackfan anemia 21 semapv:Uns MONDO:0031077 skos:exactMatch OMIM:620084 spermatogenic failure 76 semapv:UnspecifiedMatching MONDO:0031083 skos:exactMatch OMIM:620103 spermatogenic failure 77 semapv:UnspecifiedMatching MONDO:0031084 skos:exactMatch OMIM:620104 amelogenesis imperfecta, type 1k semapv:UnspecifiedMatching -MONDO:0031115 skos:exactMatch omim.ps:606703 Dyskinesia with orofacial involvement semapv:UnspecifiedMatching -MONDO:0031166 skos:exactMatch omim.ps:136550 Macular dystrophy, retinal semapv:UnspecifiedMatching -MONDO:0031169 skos:exactMatch omim.ps:184260 Odontochondrodysplasia semapv:UnspecifiedMatching -MONDO:0031199 skos:exactMatch omim.ps:619611 Interstitial lung disease semapv:UnspecifiedMatching -MONDO:0031200 skos:exactMatch omim.ps:619720 Bryant-Li-Bhoj neurodevelopmental syndrome semapv:UnspecifiedMatching -MONDO:0031213 skos:exactMatch omim.ps:275210 Restrictive dermopathy semapv:UnspecifiedMatching -MONDO:0031219 skos:exactMatch omim.ps:276300 Mismatch repair cancer syndrome semapv:UnspecifiedMatching -MONDO:0031230 skos:exactMatch omim.ps:252011 Mitochondrial complex II deficiency, nuclear type semapv:UnspecifiedMatching -MONDO:0031240 skos:exactMatch omim.ps:167870 Panic disorder semapv:UnspecifiedMatching -MONDO:0031280 skos:exactMatch omim.ps:601559 Stuve-Wiedemann syndrome semapv:UnspecifiedMatching -MONDO:0031323 skos:exactMatch omim.ps:212093 Cardiac Valvular Defect semapv:UnspecifiedMatching -MONDO:0031329 skos:exactMatch omim.ps:213980 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome semapv:UnspecifiedMatching +MONDO:0031115 skos:exactMatch OMIMPS:606703 Dyskinesia with orofacial involvement semapv:UnspecifiedMatching +MONDO:0031166 skos:exactMatch OMIMPS:136550 Macular dystrophy, retinal semapv:UnspecifiedMatching +MONDO:0031169 skos:exactMatch OMIMPS:184260 Odontochondrodysplasia semapv:UnspecifiedMatching +MONDO:0031199 skos:exactMatch OMIMPS:619611 Interstitial lung disease semapv:UnspecifiedMatching +MONDO:0031200 skos:exactMatch OMIMPS:619720 Bryant-Li-Bhoj neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0031213 skos:exactMatch OMIMPS:275210 Restrictive dermopathy semapv:UnspecifiedMatching +MONDO:0031219 skos:exactMatch OMIMPS:276300 Mismatch repair cancer syndrome semapv:UnspecifiedMatching +MONDO:0031230 skos:exactMatch OMIMPS:252011 Mitochondrial complex II deficiency, nuclear type semapv:UnspecifiedMatching +MONDO:0031240 skos:exactMatch OMIMPS:167870 Panic disorder semapv:UnspecifiedMatching +MONDO:0031280 skos:exactMatch OMIMPS:601559 Stuve-Wiedemann syndrome semapv:UnspecifiedMatching +MONDO:0031323 skos:exactMatch OMIMPS:212093 Cardiac Valvular Defect semapv:UnspecifiedMatching +MONDO:0031329 skos:exactMatch OMIMPS:213980 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome semapv:UnspecifiedMatching MONDO:0031332 skos:exactMatch OMIM:273800 glanzmann thrombasthenia 1 semapv:UnspecifiedMatching -MONDO:0031376 skos:exactMatch omim.ps:615273 Congenital disorder of deglycosylation semapv:UnspecifiedMatching -MONDO:0031384 skos:exactMatch omim.ps:616744 Autoinflammatory syndrome, familial, Behcet-like semapv:UnspecifiedMatching -MONDO:0031386 skos:exactMatch omim.ps:619142 Cardioacrofacial dysplasia semapv:UnspecifiedMatching -MONDO:0031400 skos:exactMatch omim.ps:619758 Tessadori-Van-Haaften neurodevelopmental syndrome semapv:UnspecifiedMatching -MONDO:0031415 skos:exactMatch omim.ps:254940 Carey-Fineman-Ziter syndrome semapv:UnspecifiedMatching -MONDO:0031421 skos:exactMatch omim.ps:614594 Olmsted syndrome semapv:UnspecifiedMatching -MONDO:0031422 skos:exactMatch omim.ps:256550 Mucolipidosis semapv:UnspecifiedMatching -MONDO:0031432 skos:exactMatch omim.ps:609698 Thyroid hormone metabolism, abnormal semapv:UnspecifiedMatching -MONDO:0031439 skos:exactMatch omim.ps:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:UnspecifiedMatching +MONDO:0031376 skos:exactMatch OMIMPS:615273 Congenital disorder of deglycosylation semapv:UnspecifiedMatching +MONDO:0031384 skos:exactMatch OMIMPS:616744 Autoinflammatory syndrome, familial, Behcet-like semapv:UnspecifiedMatching +MONDO:0031386 skos:exactMatch OMIMPS:619142 Cardioacrofacial dysplasia semapv:UnspecifiedMatching +MONDO:0031400 skos:exactMatch OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0031415 skos:exactMatch OMIMPS:254940 Carey-Fineman-Ziter syndrome semapv:UnspecifiedMatching +MONDO:0031421 skos:exactMatch OMIMPS:614594 Olmsted syndrome semapv:UnspecifiedMatching +MONDO:0031422 skos:exactMatch OMIMPS:256550 Mucolipidosis semapv:UnspecifiedMatching +MONDO:0031432 skos:exactMatch OMIMPS:609698 Thyroid hormone metabolism, abnormal semapv:UnspecifiedMatching +MONDO:0031439 skos:exactMatch OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies semapv:UnspecifiedMatching MONDO:0031446 skos:exactMatch OMIM:607748 hypercholanemia, familial 1 semapv:UnspecifiedMatching -MONDO:0031447 skos:exactMatch omim.ps:613112 Macrothrombocytopenia, isolated semapv:UnspecifiedMatching +MONDO:0031447 skos:exactMatch OMIMPS:613112 Macrothrombocytopenia, isolated semapv:UnspecifiedMatching MONDO:0031481 skos:exactMatch OMIM:614231 microcephaly, epilepsy, and diabetes syndrome 1 semapv:UnspecifiedMatching -MONDO:0031520 skos:exactMatch omim.ps:601457 Severe combined immunodeficiency (select examples) semapv:UnspecifiedMatching -MONDO:0031615 skos:exactMatch omim.ps:614592 Bent bone dysplasia syndrome semapv:UnspecifiedMatching -MONDO:0031632 skos:exactMatch omim.ps:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair semapv:UnspecifiedMatching -MONDO:0031646 skos:exactMatch omim.ps:619980 Braddock-Carey Syndrome semapv:UnspecifiedMatching +MONDO:0031520 skos:exactMatch OMIMPS:601457 Severe combined immunodeficiency (select examples) semapv:UnspecifiedMatching +MONDO:0031615 skos:exactMatch OMIMPS:614592 Bent bone dysplasia syndrome semapv:UnspecifiedMatching +MONDO:0031632 skos:exactMatch OMIMPS:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair semapv:UnspecifiedMatching +MONDO:0031646 skos:exactMatch OMIMPS:619980 Braddock-Carey Syndrome semapv:UnspecifiedMatching MONDO:0032485 skos:exactMatch OMIM:618009 intellectual developmental disorder, autosomal dominant 61 semapv:UnspecifiedMatching MONDO:0032526 skos:exactMatch OMIM:618093 spinocerebellar ataxia 48 semapv:UnspecifiedMatching MONDO:0032564 skos:exactMatch OMIM:618154 hennekam lymphangiectasia-lymphedema syndrome 3 semapv:UnspecifiedMatching @@ -9227,7 +9227,7 @@ MONDO:0033115 skos:exactMatch OMIM:617584 spinocerebellar ataxia, autosomal rec MONDO:0033116 skos:exactMatch OMIM:617633 spinocerebellar ataxia, autosomal recessive 26 semapv:UnspecifiedMatching MONDO:0033123 skos:exactMatch OMIM:617572 exudative vitreoretinopathy 7 semapv:UnspecifiedMatching MONDO:0033135 skos:exactMatch OMIM:618279 charcot-marie-tooth disease, demyelinating, type 1g semapv:UnspecifiedMatching -MONDO:0033196 skos:exactMatch omim.ps:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching +MONDO:0033196 skos:exactMatch OMIMPS:227220 Skin/hair/eye pigmentation, variation in semapv:UnspecifiedMatching MONDO:0033198 skos:exactMatch OMIM:617637 deafness, autosomal recessive 106 semapv:UnspecifiedMatching MONDO:0033199 skos:exactMatch OMIM:617639 deafness, autosomal recessive 107 semapv:UnspecifiedMatching MONDO:0033200 skos:exactMatch OMIM:617654 deafness, autosomal recessive 108 semapv:UnspecifiedMatching @@ -9243,13 +9243,13 @@ MONDO:0033262 skos:exactMatch OMIM:617609 nephrotic syndrome, type 15 semapv:Un MONDO:0033280 skos:exactMatch OMIM:617783 nephrotic syndrome, type 16 semapv:UnspecifiedMatching MONDO:0033281 skos:exactMatch OMIM:617610 polycystic kidney disease 5 semapv:UnspecifiedMatching MONDO:0033282 skos:exactMatch OMIM:617613 multiple mitochondrial dysfunctions syndrome 5 semapv:UnspecifiedMatching -MONDO:0033304 skos:exactMatch omim.ps:400043 Deafness, Y-linked semapv:UnspecifiedMatching +MONDO:0033304 skos:exactMatch OMIMPS:400043 Deafness, Y-linked semapv:UnspecifiedMatching MONDO:0033308 skos:exactMatch OMIM:617622 joubert syndrome 30 semapv:UnspecifiedMatching MONDO:0033309 skos:exactMatch OMIM:617757 joubert syndrome 32 semapv:UnspecifiedMatching MONDO:0033310 skos:exactMatch OMIM:617761 joubert syndrome 31 semapv:UnspecifiedMatching MONDO:0033311 skos:exactMatch OMIM:617767 joubert syndrome 33 semapv:UnspecifiedMatching MONDO:0033312 skos:exactMatch OMIM:617629 schizophrenia 19 semapv:UnspecifiedMatching -MONDO:0033352 skos:exactMatch omim.ps:605253 Neuropathy, congenital hypomelinating semapv:UnspecifiedMatching +MONDO:0033352 skos:exactMatch OMIMPS:605253 Neuropathy, congenital hypomelinating semapv:UnspecifiedMatching MONDO:0033361 skos:exactMatch OMIM:617350 developmental and epileptic encephalopathy 52 semapv:UnspecifiedMatching MONDO:0033362 skos:exactMatch OMIM:617389 developmental and epileptic encephalopathy 53 semapv:UnspecifiedMatching MONDO:0033363 skos:exactMatch OMIM:617391 developmental and epileptic encephalopathy 54 semapv:UnspecifiedMatching @@ -9349,7 +9349,7 @@ MONDO:0033670 skos:exactMatch OMIM:619093 deafness, autosomal recessive 116 sem MONDO:0033671 skos:exactMatch OMIM:619094 spermatogenic failure 45 semapv:UnspecifiedMatching MONDO:0033673 skos:exactMatch OMIM:619095 spermatogenic failure 46 semapv:UnspecifiedMatching MONDO:0033864 skos:exactMatch OMIM:618218 baker-gordon syndrome semapv:UnspecifiedMatching -MONDO:0033885 skos:exactMatch omim.ps:220110 Mitochondrial complex IV deficiency, nuclear-type semapv:UnspecifiedMatching +MONDO:0033885 skos:exactMatch OMIMPS:220110 Mitochondrial complex IV deficiency, nuclear-type semapv:UnspecifiedMatching MONDO:0033946 skos:exactMatch OMIM:106100 angioedema, hereditary, 1 semapv:UnspecifiedMatching MONDO:0034022 skos:exactMatch OMIM:616471 bethlem myopathy 2 semapv:UnspecifiedMatching MONDO:0034054 skos:exactMatch OMIM:618261 lymphoproliferative syndrome 3 semapv:UnspecifiedMatching @@ -9376,15 +9376,15 @@ MONDO:0042977 skos:exactMatch OMIM:601606 trichoepithelioma, multiple familial, MONDO:0042979 skos:exactMatch OMIM:170400 hypokalemic periodic paralysis, type 1 semapv:UnspecifiedMatching MONDO:0043003 skos:exactMatch OMIM:100600 acanthosis nigricans semapv:UnspecifiedMatching MONDO:0043364 skos:exactMatch OMIM:261500 eosinophil peroxidase deficiency semapv:UnspecifiedMatching -MONDO:0043878 skos:exactMatch omim.ps:165500 Optic atrophy semapv:UnspecifiedMatching -MONDO:0044202 skos:exactMatch omim.ps:128200 Episodic kinesigenic dyskinesia semapv:UnspecifiedMatching -MONDO:0044203 skos:exactMatch omim.ps:136520 Foveal hypoplasia semapv:UnspecifiedMatching +MONDO:0043878 skos:exactMatch OMIMPS:165500 Optic atrophy semapv:UnspecifiedMatching +MONDO:0044202 skos:exactMatch OMIMPS:128200 Episodic kinesigenic dyskinesia semapv:UnspecifiedMatching +MONDO:0044203 skos:exactMatch OMIMPS:136520 Foveal hypoplasia semapv:UnspecifiedMatching MONDO:0044204 skos:exactMatch OMIM:260400 shwachman-diamond syndrome 1 semapv:UnspecifiedMatching MONDO:0044205 skos:exactMatch OMIM:617941 shwachman-diamond syndrome 2 semapv:UnspecifiedMatching MONDO:0044206 skos:exactMatch OMIM:215150 otospondylomegaepiphyseal dysplasia, autosomal recessive semapv:UnspecifiedMatching MONDO:0044207 skos:exactMatch OMIM:245480 specific granule deficiency 1 semapv:UnspecifiedMatching MONDO:0044208 skos:exactMatch OMIM:617475 specific granule deficiency 2 semapv:UnspecifiedMatching -MONDO:0044209 skos:exactMatch omim.ps:614372 Lectin complement activation pathway defects semapv:UnspecifiedMatching +MONDO:0044209 skos:exactMatch OMIMPS:614372 Lectin complement activation pathway defects semapv:UnspecifiedMatching MONDO:0044214 skos:exactMatch OMIM:105570 androstenone, ability to smell semapv:UnspecifiedMatching MONDO:0044215 skos:exactMatch OMIM:107850 arm folding preference semapv:UnspecifiedMatching MONDO:0044216 skos:exactMatch OMIM:108320 artichoke, modification of taste by semapv:UnspecifiedMatching @@ -9443,7 +9443,7 @@ MONDO:0044274 skos:exactMatch OMIM:609070 hemoglobin, high altitude adaptation MONDO:0044275 skos:exactMatch OMIM:609338 carotid intimal medial thickness 1 semapv:UnspecifiedMatching MONDO:0044276 skos:exactMatch OMIM:612271 skin/hair/eye pigmentation, variation in, 11 semapv:UnspecifiedMatching MONDO:0044277 skos:exactMatch OMIM:612671 uric acid concentration, serum, quantitative trait locus 4 semapv:UnspecifiedMatching -MONDO:0044278 skos:exactMatch omim.ps:612975 Short sleep, familial natural semapv:UnspecifiedMatching +MONDO:0044278 skos:exactMatch OMIMPS:612975 Short sleep, familial natural semapv:UnspecifiedMatching MONDO:0044279 skos:exactMatch OMIM:613418 bone mineral density quantitative trait locus 15 semapv:UnspecifiedMatching MONDO:0044280 skos:exactMatch OMIM:614411 glycerol quantitative trait locus semapv:UnspecifiedMatching MONDO:0044281 skos:exactMatch OMIM:615082 c3hex, ability to smell semapv:UnspecifiedMatching @@ -9484,7 +9484,7 @@ MONDO:0044330 skos:exactMatch OMIM:618011 hyperekplexia 4 semapv:UnspecifiedMat MONDO:0044350 skos:exactMatch OMIM:600166 hyperparathyroidism, primary, caused by water clear cell hyperplasia semapv:UnspecifiedMatching MONDO:0044634 skos:exactMatch OMIM:617763 short stature, hearing loss, retinitis pigmentosa, and distinctive facies semapv:UnspecifiedMatching MONDO:0044637 skos:exactMatch OMIM:616921 dyskinesia, limb and orofacial, infantile-onset semapv:UnspecifiedMatching -MONDO:0044645 skos:exactMatch omim.ps:252270 Monosomy 7 myelodysplasia and leukemia syndrome semapv:UnspecifiedMatching +MONDO:0044645 skos:exactMatch OMIMPS:252270 Monosomy 7 myelodysplasia and leukemia syndrome semapv:UnspecifiedMatching MONDO:0044646 skos:exactMatch OMIM:617193 encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum semapv:UnspecifiedMatching MONDO:0044660 skos:exactMatch OMIM:614674 periodic fever, menstrual cycle-dependent semapv:UnspecifiedMatching MONDO:0044696 skos:exactMatch OMIM:617669 encephalopathy, progressive, early-onset, with brain atrophy and spasticity semapv:UnspecifiedMatching @@ -9502,7 +9502,7 @@ MONDO:0044738 skos:exactMatch OMIM:617557 gabriele-de vries syndrome semapv:Uns MONDO:0044776 skos:exactMatch OMIM:612885 premature ovarian failure 10 semapv:UnspecifiedMatching MONDO:0044777 skos:exactMatch OMIM:618014 premature ovarian failure 14 semapv:UnspecifiedMatching MONDO:0044792 skos:exactMatch OMIM:137550 melanocytic nevus syndrome, congenital semapv:UnspecifiedMatching -MONDO:0044807 skos:exactMatch omim.ps:128100 Dystonia semapv:UnspecifiedMatching +MONDO:0044807 skos:exactMatch OMIMPS:128100 Dystonia semapv:UnspecifiedMatching MONDO:0044871 skos:exactMatch OMIM:611284 dystonia, focal, task-specific semapv:UnspecifiedMatching MONDO:0049221 skos:exactMatch OMIM:301010 myopia 26, x-linked, female-limited semapv:UnspecifiedMatching MONDO:0049222 skos:exactMatch OMIM:301013 intellectual developmental disorder, X-linked 107 semapv:UnspecifiedMatching @@ -9605,7 +9605,7 @@ MONDO:0054852 skos:exactMatch OMIM:618084 peeling skin syndrome 6 semapv:Unspec MONDO:0054860 skos:exactMatch OMIM:618094 deafness, autosomal recessive 110 semapv:UnspecifiedMatching MONDO:0054861 skos:exactMatch OMIM:618095 intellectual developmental disorder, autosomal recessive 63 semapv:UnspecifiedMatching MONDO:0054862 skos:exactMatch OMIM:618096 premature ovarian failure 15 semapv:UnspecifiedMatching -MONDO:0054865 skos:exactMatch omim.ps:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission semapv:UnspecifiedMatching +MONDO:0054865 skos:exactMatch OMIMPS:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission semapv:UnspecifiedMatching MONDO:0056795 skos:exactMatch OMIM:305700 spermatogenic failure, x-linked, 1 semapv:UnspecifiedMatching MONDO:0056797 skos:exactMatch OMIM:617523 neurodevelopmental disorder with midbrain and hindbrain malformations semapv:UnspecifiedMatching MONDO:0056822 skos:exactMatch OMIM:205000 amyotonia congenita semapv:UnspecifiedMatching @@ -9670,7 +9670,7 @@ MONDO:0060711 skos:exactMatch OMIM:617988 jaberi-elahi syndrome semapv:Unspecif MONDO:0060713 skos:exactMatch OMIM:617992 deafness, congenital heart defects, and posterior embryotoxon semapv:UnspecifiedMatching MONDO:0060714 skos:exactMatch OMIM:617993 tumoral calcinosis, hyperphosphatemic, familial, 2 semapv:UnspecifiedMatching MONDO:0060715 skos:exactMatch OMIM:617994 tumoral calcinosis, hyperphosphatemic, familial, 3 semapv:UnspecifiedMatching -MONDO:0060720 skos:exactMatch omim.ps:618005 Congenital disorder of glycosylation with defective fucosylation semapv:UnspecifiedMatching +MONDO:0060720 skos:exactMatch OMIMPS:618005 Congenital disorder of glycosylation with defective fucosylation semapv:UnspecifiedMatching MONDO:0060724 skos:exactMatch OMIM:618010 glycosylphosphatidylinositol biosynthesis defect 17 semapv:UnspecifiedMatching MONDO:0060729 skos:exactMatch OMIM:618015 protoporphyria, erythropoietic, 2 semapv:UnspecifiedMatching MONDO:0060732 skos:exactMatch OMIM:618021 tetraamelia syndrome 2 semapv:UnspecifiedMatching @@ -9685,13 +9685,13 @@ MONDO:0060763 skos:exactMatch OMIM:618092 intellectual developmental disorder w MONDO:0060764 skos:exactMatch OMIM:273395 tetraamelia syndrome 1 semapv:UnspecifiedMatching MONDO:0100003 skos:exactMatch OMIM:300909 angioedema induced by ace inhibitors, susceptibility to semapv:UnspecifiedMatching MONDO:0100042 skos:exactMatch OMIM:115080 cardiac conduction defect semapv:UnspecifiedMatching -MONDO:0100043 skos:exactMatch omim.ps:226400 Epidermodysplasia verruciformis, susceptibility to semapv:UnspecifiedMatching +MONDO:0100043 skos:exactMatch OMIMPS:226400 Epidermodysplasia verruciformis, susceptibility to semapv:UnspecifiedMatching MONDO:0100044 skos:exactMatch OMIM:201180 acrofrontofacionasal dysostosis 1 semapv:UnspecifiedMatching MONDO:0100045 skos:exactMatch OMIM:226400 epidermodysplasia verruciformis, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0100046 skos:exactMatch OMIM:177650 exfoliation syndrome semapv:UnspecifiedMatching MONDO:0100048 skos:exactMatch OMIM:614395 graft-versus-host disease, susceptibility to semapv:UnspecifiedMatching MONDO:0100058 skos:exactMatch OMIM:618850 hypervalinemia and hyperleucine-isoleucinemia semapv:UnspecifiedMatching -MONDO:0100062 skos:exactMatch omim.ps:308350 Developmental and epileptic encephalopathy semapv:UnspecifiedMatching +MONDO:0100062 skos:exactMatch OMIMPS:308350 Developmental and epileptic encephalopathy semapv:UnspecifiedMatching MONDO:0100079 skos:exactMatch OMIM:607208 dravet syndrome semapv:UnspecifiedMatching MONDO:0100082 skos:exactMatch OMIM:151100 leopard syndrome 1 semapv:UnspecifiedMatching MONDO:0100083 skos:exactMatch OMIM:601399 platelet disorder, familial, with associated myeloid malignancy semapv:UnspecifiedMatching @@ -9709,44 +9709,44 @@ MONDO:0100129 skos:exactMatch OMIM:207790 arachnoid cysts, intracranial semapv: MONDO:0100151 skos:exactMatch OMIM:219800 cystinosis, nephropathic semapv:UnspecifiedMatching MONDO:0100156 skos:exactMatch OMIM:261100 imerslund-grasbeck syndrome 1 semapv:UnspecifiedMatching MONDO:0100157 skos:exactMatch OMIM:618882 imerslund-grasbeck syndrome 2 semapv:UnspecifiedMatching -MONDO:0100164 skos:exactMatch omim.ps:606176 Diabetes mellitus, permanent neonatal semapv:UnspecifiedMatching +MONDO:0100164 skos:exactMatch OMIMPS:606176 Diabetes mellitus, permanent neonatal semapv:UnspecifiedMatching MONDO:0100165 skos:exactMatch OMIM:606176 diabetes mellitus, permanent neonatal, 1 semapv:UnspecifiedMatching -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:0100170 skos:exactMatch OMIMPS:102300 Restless legs syndrome semapv:UnspecifiedMatching +MONDO:0100172 skos:exactMatch OMIMPS: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:0100178 skos:exactMatch OMIMPS: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 -MONDO:0100210 skos:exactMatch omim.ps:245590 Growth hormone insensitivity syndrome with immune dysregulation semapv:UnspecifiedMatching +MONDO:0100210 skos:exactMatch OMIMPS:245590 Growth hormone insensitivity syndrome with immune dysregulation semapv:UnspecifiedMatching MONDO:0100211 skos:exactMatch OMIM:245590 growth hormone insensitivity syndrome with immune dysregulation 1, autosomal recessive semapv:UnspecifiedMatching -MONDO:0100212 skos:exactMatch omim.ps:308205 IFAP syndrome semapv:UnspecifiedMatching +MONDO:0100212 skos:exactMatch OMIMPS:308205 IFAP syndrome semapv:UnspecifiedMatching MONDO:0100213 skos:exactMatch OMIM:308205 ifap syndrome 1, with or without bresheck syndrome semapv:UnspecifiedMatching -MONDO:0100214 skos:exactMatch omim.ps:613658 Rajab interstitial lung disease with brain calcifications semapv:UnspecifiedMatching +MONDO:0100214 skos:exactMatch OMIMPS:613658 Rajab interstitial lung disease with brain calcifications semapv:UnspecifiedMatching MONDO:0100215 skos:exactMatch OMIM:613658 rajab interstitial lung disease with brain calcifications 1 semapv:UnspecifiedMatching MONDO:0100217 skos:exactMatch OMIM:620062 developmental delay with short stature, dysmorphic facial features, and sparse hair 2 semapv:UnspecifiedMatching MONDO:0100218 skos:exactMatch OMIM:618947 arthrogryposis multiplex congenita 5 semapv:UnspecifiedMatching MONDO:0100219 skos:exactMatch OMIM:618985 growth hormone insensitivity syndrome with immune dysregulation 2, autosomal dominant semapv:UnspecifiedMatching MONDO:0100220 skos:exactMatch OMIM:619013 rajab interstitial lung disease with brain calcifications 2 semapv:UnspecifiedMatching MONDO:0100221 skos:exactMatch OMIM:619016 ifap syndrome 2 semapv:UnspecifiedMatching -MONDO:0100223 skos:exactMatch omim.ps:252010 Mitochondrial complex I deficiency, nuclear type semapv:UnspecifiedMatching +MONDO:0100223 skos:exactMatch OMIMPS:252010 Mitochondrial complex I deficiency, nuclear type semapv:UnspecifiedMatching MONDO:0100224 skos:exactMatch OMIM:252010 mitochondrial complex 1 deficiency, nuclear type 1 semapv:UnspecifiedMatching MONDO:0100226 skos:exactMatch OMIM:613938 parasomnia, sleepwalking type semapv:UnspecifiedMatching MONDO:0100232 skos:exactMatch OMIM:607507 psoriatic arthritis, susceptibility to semapv:UnspecifiedMatching -MONDO:0100237 skos:exactMatch omim.ps:123700 Cutis laxa semapv:UnspecifiedMatching -MONDO:0100238 skos:exactMatch omim.ps:134600 Fanconi renotubular syndrome semapv:UnspecifiedMatching -MONDO:0100239 skos:exactMatch omim.ps:179010 Pyloric stenosis, infantile hypertrophic semapv:UnspecifiedMatching -MONDO:0100240 skos:exactMatch omim.ps:188050 Thrombophilia semapv:UnspecifiedMatching -MONDO:0100241 skos:exactMatch omim.ps:313900 Thrombocytopenia semapv:UnspecifiedMatching -MONDO:0100242 skos:exactMatch omim.ps:137800 Glioma semapv:UnspecifiedMatching -MONDO:0100244 skos:exactMatch omim.ps:300818 Paroxysmal nocturnal hemoglobinuria semapv:UnspecifiedMatching -MONDO:0100246 skos:exactMatch omim.ps:157300 Migraine with or without aura, susceptibility to semapv:UnspecifiedMatching -MONDO:0100247 skos:exactMatch omim.ps:614080 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:UnspecifiedMatching +MONDO:0100237 skos:exactMatch OMIMPS:123700 Cutis laxa semapv:UnspecifiedMatching +MONDO:0100238 skos:exactMatch OMIMPS:134600 Fanconi renotubular syndrome semapv:UnspecifiedMatching +MONDO:0100239 skos:exactMatch OMIMPS:179010 Pyloric stenosis, infantile hypertrophic semapv:UnspecifiedMatching +MONDO:0100240 skos:exactMatch OMIMPS:188050 Thrombophilia semapv:UnspecifiedMatching +MONDO:0100241 skos:exactMatch OMIMPS:313900 Thrombocytopenia semapv:UnspecifiedMatching +MONDO:0100242 skos:exactMatch OMIMPS:137800 Glioma semapv:UnspecifiedMatching +MONDO:0100244 skos:exactMatch OMIMPS:300818 Paroxysmal nocturnal hemoglobinuria semapv:UnspecifiedMatching +MONDO:0100246 skos:exactMatch OMIMPS:157300 Migraine with or without aura, susceptibility to semapv:UnspecifiedMatching +MONDO:0100247 skos:exactMatch OMIMPS:614080 Multiple congenital anomalies-hypotonia-seizures syndrome semapv:UnspecifiedMatching MONDO:0100250 skos:exactMatch OMIM:400045 46,xx sex reversal 1 semapv:UnspecifiedMatching MONDO:0100252 skos:exactMatch OMIM:211900 tumoral calcinosis, hyperphosphatemic, familial, 1 semapv:UnspecifiedMatching MONDO:0100253 skos:exactMatch OMIM:268300 roberts-sc phocomelia syndrome semapv:UnspecifiedMatching MONDO:0100255 skos:exactMatch OMIM:614300 hypermethioninemia due to adenosine kinase deficiency semapv:UnspecifiedMatching -MONDO:0100280 skos:exactMatch omim.ps:153600 Macroglobulinemia, Waldenstrom semapv:UnspecifiedMatching +MONDO:0100280 skos:exactMatch OMIMPS:153600 Macroglobulinemia, Waldenstrom semapv:UnspecifiedMatching MONDO:0100281 skos:exactMatch OMIM:153600 macroglobulinemia, waldenstrom, susceptibility to, 1 semapv:UnspecifiedMatching MONDO:0100285 skos:exactMatch OMIM:210500 biliary atresia, extrahepatic semapv:UnspecifiedMatching MONDO:0100288 skos:exactMatch OMIM:268100 enhanced s-cone syndrome semapv:UnspecifiedMatching @@ -9759,9 +9759,9 @@ MONDO:0100302 skos:exactMatch OMIM:149730 lacrimoauriculodentodigital syndrome MONDO:0100303 skos:exactMatch OMIM:607602 ichthyosis, annular epidermolytic, 1 semapv:UnspecifiedMatching MONDO:0100316 skos:exactMatch OMIM:192500 long qt syndrome 1 semapv:UnspecifiedMatching MONDO:0100325 skos:exactMatch OMIM:184260 odontochondrodysplasia 1 semapv:UnspecifiedMatching -MONDO:0100326 skos:exactMatch omim.ps:273800 Glanzmann thrombasthenia semapv:UnspecifiedMatching -MONDO:0100327 skos:exactMatch omim.ps:607748 Hypercholanemia, familial semapv:UnspecifiedMatching -MONDO:0100328 skos:exactMatch omim.ps:614231 Microcephaly, epilepsy, and diabetes syndrome semapv:UnspecifiedMatching +MONDO:0100326 skos:exactMatch OMIMPS:273800 Glanzmann thrombasthenia semapv:UnspecifiedMatching +MONDO:0100327 skos:exactMatch OMIMPS:607748 Hypercholanemia, familial semapv:UnspecifiedMatching +MONDO:0100328 skos:exactMatch OMIMPS:614231 Microcephaly, epilepsy, and diabetes syndrome semapv:UnspecifiedMatching MONDO:0100340 skos:exactMatch OMIM:229300 friedreich ataxia semapv:UnspecifiedMatching MONDO:0100344 skos:exactMatch OMIM:601678 bartter syndrome, type 1, antenatal semapv:UnspecifiedMatching MONDO:0100348 skos:exactMatch OMIM:619091 neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities semapv:UnspecifiedMatching @@ -9771,7 +9771,7 @@ MONDO:0100428 skos:exactMatch OMIM:211500 fazio-londe disease semapv:Unspecifie MONDO:0100433 skos:exactMatch OMIM:620475 thrombocytopenia 8, with dysmorphic features and developmental delay semapv:UnspecifiedMatching MONDO:0100435 skos:exactMatch OMIM:255800 schwartz-jampel syndrome, type 1 semapv:UnspecifiedMatching MONDO:0100436 skos:exactMatch OMIM:604307 cataract 2, multiple types semapv:UnspecifiedMatching -MONDO:0100440 skos:exactMatch omim.ps:608638 Asperger syndrome, susceptibility to semapv:UnspecifiedMatching +MONDO:0100440 skos:exactMatch OMIMPS:608638 Asperger syndrome, susceptibility to semapv:UnspecifiedMatching MONDO:0100450 skos:exactMatch OMIM:193235 vitreoretinopathy, neovascular inflammatory semapv:UnspecifiedMatching MONDO:0100457 skos:exactMatch OMIM:200400 achalasia, familial esophageal semapv:UnspecifiedMatching MONDO:0100460 skos:exactMatch OMIM:188890 tobacco addiction, susceptibility to semapv:UnspecifiedMatching @@ -9788,13 +9788,13 @@ MONDO:0100490 skos:exactMatch OMIM:113700 breasts and/or nipples, aplasia or hy MONDO:0100518 skos:exactMatch OMIM:143465 attention deficit-hyperactivity disorder semapv:UnspecifiedMatching MONDO:0100519 skos:exactMatch OMIM:602477 epilepsy, idiopathic generalized, susceptibility to, 17 semapv:UnspecifiedMatching MONDO:0100522 skos:exactMatch OMIM:146550 hypotrichosis 4 semapv:UnspecifiedMatching -MONDO:0100526 skos:exactMatch omim.ps:604370 Breast-ovarian cancer, familial, susceptibility to semapv:UnspecifiedMatching +MONDO:0100526 skos:exactMatch OMIMPS:604370 Breast-ovarian cancer, familial, susceptibility to semapv:UnspecifiedMatching MONDO:0100531 skos:exactMatch OMIM:310300 emery-dreifuss muscular dystrophy 1, X-linked semapv:UnspecifiedMatching MONDO:0100532 skos:exactMatch OMIM:606798 blepharospasm, benign essential, susceptibility to semapv:UnspecifiedMatching MONDO:0100533 skos:exactMatch OMIM:614519 hemorrhage, intracerebral, susceptibility to semapv:UnspecifiedMatching MONDO:0100553 skos:exactMatch OMIM:137760 glaucoma, primary open angle semapv:UnspecifiedMatching -MONDO:0100554 skos:exactMatch omim.ps:161400 Narcolepsy semapv:UnspecifiedMatching -MONDO:0100555 skos:exactMatch omim.ps:161950 IgA nephropathy semapv:UnspecifiedMatching +MONDO:0100554 skos:exactMatch OMIMPS:161400 Narcolepsy semapv:UnspecifiedMatching +MONDO:0100555 skos:exactMatch OMIMPS:161950 IgA nephropathy semapv:UnspecifiedMatching MONDO:0200001 skos:exactMatch OMIM:118840 chromate resistance semapv:UnspecifiedMatching MONDO:0600024 skos:exactMatch OMIM:160750 myositis semapv:UnspecifiedMatching MONDO:0700039 skos:exactMatch OMIM:600057 bladder exstrophy and epispadias complex semapv:UnspecifiedMatching @@ -9806,7 +9806,7 @@ MONDO:0700089 skos:exactMatch OMIM:118800 paroxysmal nonkinesigenic dyskinesia MONDO:0700090 skos:exactMatch OMIM:600512 epilepsy, familial temporal lobe, 1 semapv:UnspecifiedMatching MONDO:0700107 skos:exactMatch OMIM:613026 chromosome 19q13.11 deletion syndrome, distal semapv:UnspecifiedMatching MONDO:0700112 skos:exactMatch OMIM:270100 heterotaxy, visceral, 5, autosomal semapv:UnspecifiedMatching -MONDO:0700225 skos:exactMatch omim.ps:600803 Gallbladder disease semapv:UnspecifiedMatching +MONDO:0700225 skos:exactMatch OMIMPS:600803 Gallbladder disease semapv:UnspecifiedMatching MONDO:0700245 skos:exactMatch OMIM:620707 epidermolytic hyperkeratosis 2b, autosomal recessive semapv:UnspecifiedMatching MONDO:0700248 skos:exactMatch OMIM:620150 epidermolytic hyperkeratosis 2a, autosomal dominant semapv:UnspecifiedMatching MONDO:0700249 skos:exactMatch OMIM:113800 epidermolytic hyperkeratosis 1 semapv:UnspecifiedMatching @@ -9819,7 +9819,7 @@ MONDO:0800027 skos:exactMatch OMIM:221820 leukoencephalopathy, hereditary diffu MONDO:0800028 skos:exactMatch OMIM:606703 dyskinesia with orofacial involvement, autosomal dominant semapv:UnspecifiedMatching MONDO:0800029 skos:exactMatch OMIM:178500 interstitial lung disease 2 semapv:UnspecifiedMatching MONDO:0800030 skos:exactMatch OMIM:243150 gastrointestinal defects and immunodeficiency syndrome 1 semapv:UnspecifiedMatching -MONDO:0800031 skos:exactMatch omim.ps:209880 Central hypoventilation syndrome, congenital semapv:UnspecifiedMatching +MONDO:0800031 skos:exactMatch OMIMPS:209880 Central hypoventilation syndrome, congenital semapv:UnspecifiedMatching MONDO:0800042 skos:exactMatch OMIM:275210 restrictive dermopathy 1 semapv:UnspecifiedMatching MONDO:0800043 skos:exactMatch OMIM:601559 stuve-wiedemann syndrome 1 semapv:UnspecifiedMatching MONDO:0800044 skos:exactMatch OMIM:615273 congenital disorder of deglycosylation 1 semapv:UnspecifiedMatching @@ -9832,22 +9832,22 @@ MONDO:0800129 skos:exactMatch OMIM:301081 autoinflammatory disease, systemic, X MONDO:0800130 skos:exactMatch OMIM:619375 autoinflammatory syndrome, familial, with or without immunodeficiency semapv:UnspecifiedMatching MONDO:0800131 skos:exactMatch OMIM:619752 hyper-ige syndrome 4a, autosomal dominant, with recurrent infections semapv:UnspecifiedMatching MONDO:0800132 skos:exactMatch OMIM:619858 autoinflammatory-pancytopenia syndrome semapv:UnspecifiedMatching -MONDO:0800166 skos:exactMatch omim.ps:267750 Knobloch syndrome semapv:UnspecifiedMatching +MONDO:0800166 skos:exactMatch OMIMPS:267750 Knobloch syndrome semapv:UnspecifiedMatching MONDO:0800167 skos:exactMatch OMIM:267750 knobloch syndrome 1 semapv:UnspecifiedMatching MONDO:0800187 skos:exactMatch OMIM:613002 immunodeficiency 83, susceptibility to viral infections semapv:UnspecifiedMatching -MONDO:0800188 skos:exactMatch omim.ps:145600 Malignant hyperthermia semapv:UnspecifiedMatching +MONDO:0800188 skos:exactMatch OMIMPS:145600 Malignant hyperthermia semapv:UnspecifiedMatching MONDO:0800306 skos:exactMatch OMIM:620681 myoclonic epilepsy of lafora 2 semapv:UnspecifiedMatching MONDO:0800341 skos:exactMatch OMIM:255310 congenital myopathy 4a, autosomal dominant semapv:UnspecifiedMatching MONDO:0800436 skos:exactMatch OMIM:213980 craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 1 semapv:UnspecifiedMatching MONDO:0800437 skos:exactMatch OMIM:254940 carey-fineman-ziter syndrome 1 semapv:UnspecifiedMatching MONDO:0800438 skos:exactMatch OMIM:616901 developmental delay with short stature, dysmorphic facial features, and sparse hair 1 semapv:UnspecifiedMatching -MONDO:0800444 skos:exactMatch omim.ps:135150 Birt-Hogg-Dube syndrome semapv:UnspecifiedMatching +MONDO:0800444 skos:exactMatch OMIMPS:135150 Birt-Hogg-Dube syndrome semapv:UnspecifiedMatching MONDO:0800445 skos:exactMatch OMIM:135150 birt-hogg-dube syndrome 1 semapv:UnspecifiedMatching MONDO:0800447 skos:exactMatch OMIM:614009 bleeding disorder, platelet-type, 13, susceptibility to semapv:UnspecifiedMatching -MONDO:0800448 skos:exactMatch omim.ps:603896 Leukoencephalopathy with vanishing white matter semapv:UnspecifiedMatching -MONDO:0800449 skos:exactMatch omim.ps:278000 Lysosomal acid lipase deficiency semapv:UnspecifiedMatching -MONDO:0800450 skos:exactMatch omim.ps:616033 Microcephaly, short stature, and impaired glucose metabolism semapv:UnspecifiedMatching -MONDO:0800451 skos:exactMatch omim.ps:604498 Amegakaryocytic thrombocytopenia, congenital semapv:UnspecifiedMatching +MONDO:0800448 skos:exactMatch OMIMPS:603896 Leukoencephalopathy with vanishing white matter semapv:UnspecifiedMatching +MONDO:0800449 skos:exactMatch OMIMPS:278000 Lysosomal acid lipase deficiency semapv:UnspecifiedMatching +MONDO:0800450 skos:exactMatch OMIMPS:616033 Microcephaly, short stature, and impaired glucose metabolism semapv:UnspecifiedMatching +MONDO:0800451 skos:exactMatch OMIMPS:604498 Amegakaryocytic thrombocytopenia, congenital semapv:UnspecifiedMatching MONDO:0800452 skos:exactMatch OMIM:604498 amegakaryocytic thrombocytopenia, congenital, 1 semapv:UnspecifiedMatching MONDO:0800455 skos:exactMatch OMIM:620459 birt-hogg-dube syndrome 2 semapv:UnspecifiedMatching MONDO:0850514 skos:exactMatch OMIM:619733 inclusion body myopathy and brain white matter abnormalities semapv:UnspecifiedMatching @@ -9913,7 +9913,7 @@ MONDO:0859189 skos:exactMatch OMIM:619518 muscular dystrophy, congenital hearin MONDO:0859190 skos:exactMatch OMIM:619522 neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities semapv:UnspecifiedMatching MONDO:0859191 skos:exactMatch OMIM:619534 biliary, renal, neurologic, and skeletal syndrome semapv:UnspecifiedMatching MONDO:0859192 skos:exactMatch OMIM:619538 cerebral cavernous malformations 4 semapv:UnspecifiedMatching -MONDO:0859193 skos:exactMatch omim.ps:619539 Neuroocular syndrome semapv:UnspecifiedMatching +MONDO:0859193 skos:exactMatch OMIMPS:619539 Neuroocular syndrome semapv:UnspecifiedMatching MONDO:0859194 skos:exactMatch OMIM:619543 boudin-mortier syndrome semapv:UnspecifiedMatching MONDO:0859196 skos:exactMatch OMIM:619548 usmani-riazuddin syndrome, autosomal recessive semapv:UnspecifiedMatching MONDO:0859197 skos:exactMatch OMIM:619556 intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies semapv:UnspecifiedMatching @@ -10031,7 +10031,7 @@ MONDO:0859318 skos:exactMatch OMIM:620126 pseudohypoaldosteronism, type ib3, au MONDO:0859319 skos:exactMatch OMIM:620133 dyskeratosis congenita, autosomal recessive 8 semapv:UnspecifiedMatching MONDO:0859320 skos:exactMatch OMIM:620135 mitochondrial complex 1 deficiency, nuclear type 39 semapv:UnspecifiedMatching MONDO:0859321 skos:exactMatch OMIM:620137 mitochondrial complex 3 deficiency, nuclear type 11 semapv:UnspecifiedMatching -MONDO:0859322 skos:exactMatch OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis semapv:UnspecifiedMatching +MONDO:0859322 skos:exactMatch OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 semapv:UnspecifiedMatching MONDO:0859323 skos:exactMatch OMIM:620139 combined oxidative phosphorylation deficiency 56 semapv:UnspecifiedMatching MONDO:0859324 skos:exactMatch OMIM:620141 developmental delay, language impairment, and ocular abnormalities semapv:UnspecifiedMatching MONDO:0859325 skos:exactMatch OMIM:620145 developmental and epileptic encephalopathy 109 semapv:UnspecifiedMatching @@ -10086,9 +10086,9 @@ MONDO:0859379 skos:exactMatch OMIM:620244 lymphatic malformation 13 semapv:Unsp MONDO:0859380 skos:exactMatch OMIM:620245 episodic kinesigenic dyskinesia 3 semapv:UnspecifiedMatching MONDO:0859381 skos:exactMatch OMIM:620247 cardiomyopathy, dilated, 1oo semapv:UnspecifiedMatching MONDO:0859382 skos:exactMatch OMIM:620253 cataract 50 with or without glaucoma semapv:UnspecifiedMatching -MONDO:0859383 skos:exactMatch omim.ps:146590 Ichthyosis hystrix semapv:UnspecifiedMatching -MONDO:0859390 skos:exactMatch omim.ps:300491 Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features semapv:UnspecifiedMatching -MONDO:0859393 skos:exactMatch omim.ps:620184 Atelis syndrome semapv:UnspecifiedMatching +MONDO:0859383 skos:exactMatch OMIMPS:146590 Ichthyosis hystrix semapv:UnspecifiedMatching +MONDO:0859390 skos:exactMatch OMIMPS:300491 Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features semapv:UnspecifiedMatching +MONDO:0859393 skos:exactMatch OMIMPS:620184 Atelis syndrome semapv:UnspecifiedMatching MONDO:0859477 skos:exactMatch OMIM:301099 spermatogenic failure, x-linked, 5 semapv:UnspecifiedMatching MONDO:0859478 skos:exactMatch OMIM:301101 spermatogenic failure, x-linked, 6 semapv:UnspecifiedMatching MONDO:0859514 skos:exactMatch OMIM:620246 congenital myopathy 18 semapv:UnspecifiedMatching @@ -10124,7 +10124,7 @@ MONDO:0859575 skos:exactMatch OMIM:620184 atelis syndrome 1 semapv:UnspecifiedM MONDO:0859576 skos:exactMatch OMIM:620185 atelis syndrome 2 semapv:UnspecifiedMatching MONDO:0859577 skos:exactMatch OMIM:620192 lacrimoauriculodentodigital syndrome 2 semapv:UnspecifiedMatching MONDO:0859578 skos:exactMatch OMIM:620193 lacrimoauriculodentodigital syndrome 3 semapv:UnspecifiedMatching -MONDO:0957097 skos:exactMatch omim.ps:235400 Hemolytic uremic syndrome semapv:UnspecifiedMatching +MONDO:0957097 skos:exactMatch OMIMPS:235400 Hemolytic uremic syndrome semapv:UnspecifiedMatching MONDO:0957202 skos:exactMatch OMIM:301106 spermatogenic failure, x-linked, 7 semapv:UnspecifiedMatching MONDO:0957203 skos:exactMatch OMIM:301107 intellectual developmental disorder, X-linked 111 semapv:UnspecifiedMatching MONDO:0957204 skos:exactMatch OMIM:620296 autoinflammation with pulmonary and cutaneous vasculitis semapv:UnspecifiedMatching @@ -10177,15 +10177,15 @@ MONDO:0957307 skos:exactMatch OMIM:620415 woolly hair-skin fragility syndrome s MONDO:0957308 skos:exactMatch OMIM:620416 spastic paraplegia 90a, autosomal dominant semapv:UnspecifiedMatching MONDO:0957309 skos:exactMatch OMIM:620417 spastic paraplegia 90b, autosomal recessive semapv:UnspecifiedMatching MONDO:0957314 skos:exactMatch OMIM:620422 retinitis pigmentosa 97 semapv:UnspecifiedMatching -MONDO:0957317 skos:exactMatch omim.ps:141200 Hematuria, benign familial semapv:UnspecifiedMatching -MONDO:0957318 skos:exactMatch omim.ps:167030 Nephrolithiasis, calcium oxalate semapv:UnspecifiedMatching +MONDO:0957317 skos:exactMatch OMIMPS:141200 Hematuria, benign familial semapv:UnspecifiedMatching +MONDO:0957318 skos:exactMatch OMIMPS:167030 Nephrolithiasis, calcium oxalate semapv:UnspecifiedMatching MONDO:0957382 skos:exactMatch OMIM:620423 multiple mitochondrial dysfunctions syndrome 7 semapv:UnspecifiedMatching MONDO:0957385 skos:exactMatch OMIM:620427 dystonia 37, early-onset, with striatal lesions semapv:UnspecifiedMatching MONDO:0957386 skos:exactMatch OMIM:620428 neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities semapv:UnspecifiedMatching MONDO:0957388 skos:exactMatch OMIM:620430 autoimmune disease, multisystem, infantile-onset, 3 semapv:UnspecifiedMatching MONDO:0957396 skos:exactMatch OMIM:620438 ciliary dyskinesia, primary, 51 semapv:UnspecifiedMatching MONDO:0957397 skos:exactMatch OMIM:620439 intellectual developmental disorder, autosomal dominant 72 semapv:UnspecifiedMatching -MONDO:0957400 skos:exactMatch omim.ps:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 semapv:UnspecifiedMatching +MONDO:0957400 skos:exactMatch OMIMPS:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 semapv:UnspecifiedMatching MONDO:0957494 skos:exactMatch OMIM:301109 autoinflammatory disease, multisystem, with immune dysregulation, X-linked semapv:UnspecifiedMatching MONDO:0957495 skos:exactMatch OMIM:301110 hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature semapv:UnspecifiedMatching MONDO:0957496 skos:exactMatch OMIM:301111 intellectual developmental disorder, X-linked 112 semapv:UnspecifiedMatching @@ -10205,7 +10205,7 @@ MONDO:0957542 skos:exactMatch OMIM:620456 dystonia 22, adult-onset semapv:Unspe MONDO:0957543 skos:exactMatch OMIM:620457 auriculocondylar syndrome 4 semapv:UnspecifiedMatching MONDO:0957544 skos:exactMatch OMIM:620458 auriculocondylar syndrome 2b semapv:UnspecifiedMatching MONDO:0957545 skos:exactMatch OMIM:620462 cardiomyopathy, dilated, 2i semapv:UnspecifiedMatching -MONDO:0957553 skos:exactMatch omim.ps:616355 Houge-Janssens syndrome semapv:UnspecifiedMatching +MONDO:0957553 skos:exactMatch OMIMPS:616355 Houge-Janssens syndrome semapv:UnspecifiedMatching MONDO:0957560 skos:exactMatch OMIM:613035 hearing loss, noise-induced, susceptibility to semapv:UnspecifiedMatching MONDO:0957561 skos:exactMatch OMIM:620461 encephalitis, acute, infection-induced, susceptibility to, 12 semapv:UnspecifiedMatching MONDO:0957563 skos:exactMatch OMIM:620469 cranial dysinnervation disorder, congenital, with absent corneal reflex and developmental delay semapv:UnspecifiedMatching @@ -10222,7 +10222,7 @@ MONDO:0957588 skos:exactMatch OMIM:620494 neurodevelopmental disorder with impa MONDO:0957593 skos:exactMatch OMIM:620499 spermatogenic failure 86 semapv:UnspecifiedMatching MONDO:0957594 skos:exactMatch OMIM:620500 spermatogenic failure 87 semapv:UnspecifiedMatching MONDO:0957595 skos:exactMatch OMIM:620501 ziegler-huang syndrome semapv:UnspecifiedMatching -MONDO:0957599 skos:exactMatch omim.ps:617290 Epilepsy, early-onset semapv:UnspecifiedMatching +MONDO:0957599 skos:exactMatch OMIMPS:617290 Epilepsy, early-onset semapv:UnspecifiedMatching MONDO:0957779 skos:exactMatch OMIM:620502 neurodevelopmental disorder with language delay and variable cognitive abnormalities semapv:UnspecifiedMatching MONDO:0957780 skos:exactMatch OMIM:620504 developmental and epileptic encephalopathy 111 semapv:UnspecifiedMatching MONDO:0957783 skos:exactMatch OMIM:620507 ichthyosis with erythrokeratoderma semapv:UnspecifiedMatching @@ -10361,8 +10361,8 @@ MONDO:0968944 skos:exactMatch OMIM:620779 intellectual developmental disorder, MONDO:0968945 skos:exactMatch OMIM:620782 neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder semapv:UnspecifiedMatching MONDO:0968946 skos:exactMatch OMIM:620783 developmental and epileptic encephalopathy 115 semapv:UnspecifiedMatching MONDO:0968947 skos:exactMatch OMIM:620784 neurodevelopmental disorder plus optic atrophy semapv:UnspecifiedMatching -MONDO:0968949 skos:exactMatch omim.ps:144200 Palmoplantar keratoderma, epidermolytic semapv:UnspecifiedMatching -MONDO:0968951 skos:exactMatch omim.ps:220150 Hypouricemia, renal semapv:UnspecifiedMatching +MONDO:0968949 skos:exactMatch OMIMPS:144200 Palmoplantar keratoderma, epidermolytic semapv:UnspecifiedMatching +MONDO:0968951 skos:exactMatch OMIMPS:220150 Hypouricemia, renal semapv:UnspecifiedMatching MONDO:0968976 skos:exactMatch OMIM:620785 neurodevelopmental disorder with progressive movement abnormalities semapv:UnspecifiedMatching MONDO:0968977 skos:exactMatch OMIM:620786 basal ganglia calcification, idiopathic, 9, autosomal recessive semapv:UnspecifiedMatching MONDO:0968978 skos:exactMatch OMIM:620789 aplasia cutis-enamel dysplasia syndrome semapv:UnspecifiedMatching @@ -10414,7 +10414,14 @@ MONDO:0971176 skos:exactMatch OMIM:620897 ovarian dysgenesis 11 semapv:Unspecif 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:0975705 skos:exactMatch OMIM:620910 otofacial neurodevelopmental syndrome semapv:UnspecifiedMatching +MONDO:0975745 skos:exactMatch OMIM:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 semapv:UnspecifiedMatching +MONDO:0975746 skos:exactMatch OMIM:620911 spastic paraplegia 92, autosomal recessive semapv:UnspecifiedMatching +MONDO:0975747 skos:exactMatch OMIM:620917 spermatogenic failure 95 semapv:UnspecifiedMatching +MONDO:0975748 skos:exactMatch OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to semapv:UnspecifiedMatching +MONDO:0975749 skos:exactMatch OMIM:620926 immunodeficiency 125 semapv:UnspecifiedMatching +MONDO:0975761 skos:exactMatch OMIM:620931 immunodeficiency 126, susceptibility to semapv:UnspecifiedMatching +MONDO:1030001 skos:exactMatch OMIMPS: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 MONDO:8000011 skos:exactMatch OMIM:243180 visceral neuropathy, familial, 1, autosomal recessive semapv:UnspecifiedMatching @@ -10623,7 +10630,7 @@ OMIM:102775 ADORA1 skos:exactMatch ncbigene:134 semapv:UnspecifiedMatching OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:263 semapv:UnspecifiedMatching OMIM:102776 ADORA2A skos:exactMatch hgnc.symbol:ADORA2A semapv:UnspecifiedMatching OMIM:102776 ADORA2A skos:exactMatch ncbigene:135 semapv:UnspecifiedMatching -OMIM:102800 adenosine triphosphatase deficiency, anemia due to skos:exactMatch MONDO:0007066 semapv:UnspecifiedMatching +OMIM:102800 skos:exactMatch MONDO:0007066 semapv:UnspecifiedMatching OMIM:102900 adenosine triphosphate, elevated, of erythrocytes skos:exactMatch MONDO:0007067 semapv:UnspecifiedMatching OMIM:102900 adenosine triphosphate, elevated, of erythrocytes skos:exactMatch UMLS:C1863224 semapv:UnspecifiedMatching OMIM:102910 ATP5F1B skos:exactMatch UMLS:C1412653 semapv:UnspecifiedMatching @@ -14628,12 +14635,12 @@ OMIM:139393 guillain-barre syndrome, familial skos:exactMatch MONDO:0007691 sem OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:22800 semapv:UnspecifiedMatching OMIM:139395 GNAT3 skos:exactMatch hgnc.symbol:GNAT3 semapv:UnspecifiedMatching OMIM:139395 GNAT3 skos:exactMatch ncbigene:346562 semapv:UnspecifiedMatching -OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:4685 semapv:UnspecifiedMatching -OMIM:139396 GUCY1A3 skos:exactMatch hgnc.symbol:GUCY1A1 semapv:UnspecifiedMatching -OMIM:139396 GUCY1A3 skos:exactMatch ncbigene:2982 semapv:UnspecifiedMatching -OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:4687 semapv:UnspecifiedMatching -OMIM:139397 GUCY1B3 skos:exactMatch hgnc.symbol:GUCY1B1 semapv:UnspecifiedMatching -OMIM:139397 GUCY1B3 skos:exactMatch ncbigene:2983 semapv:UnspecifiedMatching +OMIM:139396 GUCY1A1 skos:exactMatch hgnc.symbol:4685 semapv:UnspecifiedMatching +OMIM:139396 GUCY1A1 skos:exactMatch hgnc.symbol:GUCY1A1 semapv:UnspecifiedMatching +OMIM:139396 GUCY1A1 skos:exactMatch ncbigene:2982 semapv:UnspecifiedMatching +OMIM:139397 GUCY1B1 skos:exactMatch hgnc.symbol:4687 semapv:UnspecifiedMatching +OMIM:139397 GUCY1B1 skos:exactMatch hgnc.symbol:GUCY1B1 semapv:UnspecifiedMatching +OMIM:139397 GUCY1B1 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 @@ -21890,7 +21897,7 @@ OMIM:230400 galactosemia 1 skos:exactMatch MONDO:0009258 semapv:UnspecifiedMatc OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:352 semapv:UnspecifiedMatching OMIM:230400 galactosemia 1 skos:exactMatch Orphanet:79239 semapv:UnspecifiedMatching OMIM:230400 galactosemia 1 skos:exactMatch UMLS:C0268151 semapv:UnspecifiedMatching -OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to skos:exactMatch MONDO:0009259 semapv:UnspecifiedMatching +OMIM:230450 anemia, congenital, nonspherocytic hemolytic, 7 skos:exactMatch MONDO:0009259 semapv:UnspecifiedMatching OMIM:230500 gm1-gangliosidosis, type 1 skos:exactMatch MONDO:0009260 semapv:UnspecifiedMatching OMIM:230600 gm1-gangliosidosis, type 2 skos:exactMatch MONDO:0009261 semapv:UnspecifiedMatching OMIM:230650 gm1-gangliosidosis, type 3 skos:exactMatch MONDO:0009262 semapv:UnspecifiedMatching @@ -21934,7 +21941,7 @@ OMIM:231675 ETFDH skos:exactMatch hgnc.symbol:ETFDH semapv:UnspecifiedMatching OMIM:231675 ETFDH skos:exactMatch ncbigene:2110 semapv:UnspecifiedMatching OMIM:231680 multiple acyl-coa dehydrogenase deficiency skos:exactMatch MONDO:0009282 semapv:UnspecifiedMatching OMIM:231690 glutaric aciduria 3 skos:exactMatch MONDO:0009283 semapv:UnspecifiedMatching -OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to skos:exactMatch MONDO:0009284 semapv:UnspecifiedMatching +OMIM:231900 anemia, congenital, nonspherocytic hemolytic, 6 skos:exactMatch MONDO:0009284 semapv:UnspecifiedMatching OMIM:231950 glutathionuria skos:exactMatch MONDO:0009285 semapv:UnspecifiedMatching OMIM:231970 gluteal muscles, absence of skos:exactMatch MONDO:0009286 semapv:UnspecifiedMatching OMIM:231970 gluteal muscles, absence of skos:exactMatch UMLS:C1856398 semapv:UnspecifiedMatching @@ -22032,7 +22039,7 @@ OMIM:235500 hemosiderosis, pulmonary, with deficiency of gamma-a globulin skos:e OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 skos:exactMatch MONDO:0009337 semapv:UnspecifiedMatching OMIM:235550 hepatic venoocclusive disease with immunodeficiency skos:exactMatch MONDO:0009338 semapv:UnspecifiedMatching OMIM:235555 bile acid synthesis defect, congenital, 2 skos:exactMatch MONDO:0009339 semapv:UnspecifiedMatching -OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency skos:exactMatch MONDO:0009340 semapv:UnspecifiedMatching +OMIM:235700 anemia, congenital, nonspherocytic hemolytic, 5 skos:exactMatch MONDO:0009340 semapv:UnspecifiedMatching OMIM:235730 mowat-wilson syndrome skos:exactMatch MONDO:0009341 semapv:UnspecifiedMatching OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:2152 semapv:UnspecifiedMatching OMIM:235730 mowat-wilson syndrome skos:exactMatch Orphanet:261537 semapv:UnspecifiedMatching @@ -22940,13 +22947,13 @@ OMIM:265900 pyle disease skos:exactMatch Orphanet:3005 semapv:UnspecifiedMatchi OMIM:265900 pyle disease skos:exactMatch UMLS:C0265294 semapv:UnspecifiedMatching OMIM:265950 pyloric atresia skos:exactMatch MONDO:0009944 semapv:UnspecifiedMatching OMIM:266100 epilepsy, early-onset, 4, vitamin b6-dependent skos:exactMatch MONDO:0020741 semapv:UnspecifiedMatching -OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to skos:exactMatch MONDO:0009946 semapv:UnspecifiedMatching +OMIM:266120 anemia, congenital, nonspherocytic hemolytic, 8 skos:exactMatch MONDO:0009946 semapv:UnspecifiedMatching OMIM:266130 glutathione synthetase deficiency skos:exactMatch MONDO:0009947 semapv:UnspecifiedMatching OMIM:266140 pyropoikilocytosis, hereditary skos:exactMatch MONDO:0009948 semapv:UnspecifiedMatching OMIM:266150 pyruvate carboxylase deficiency skos:exactMatch MONDO:0009949 semapv:UnspecifiedMatching -OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch MONDO:0009950 semapv:UnspecifiedMatching -OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch Orphanet:766 semapv:UnspecifiedMatching -OMIM:266200 pyruvate kinase deficiency of red cells skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching +OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 skos:exactMatch MONDO:0009950 semapv:UnspecifiedMatching +OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 skos:exactMatch Orphanet:766 semapv:UnspecifiedMatching +OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 skos:exactMatch UMLS:C0340968 semapv:UnspecifiedMatching OMIM:266250 radiculoneuropathy, fatal neonatal skos:exactMatch MONDO:0009951 semapv:UnspecifiedMatching OMIM:266255 radioulnar synostosis, unilateral, with developmental retardation and hypotonia skos:exactMatch MONDO:0009952 semapv:UnspecifiedMatching OMIM:266265 congenital disorder of glycosylation, type iic skos:exactMatch MONDO:0009953 semapv:UnspecifiedMatching @@ -25744,7 +25751,7 @@ OMIM:300906 PDK3 skos:exactMatch ncbigene:5165 semapv:UnspecifiedMatching OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:2484 semapv:UnspecifiedMatching OMIM:300907 CSTF2 skos:exactMatch hgnc.symbol:CSTF2 semapv:UnspecifiedMatching OMIM:300907 CSTF2 skos:exactMatch ncbigene:1478 semapv:UnspecifiedMatching -OMIM:300908 anemia, nonspherocytic hemolytic, due to g6pd deficiency skos:exactMatch MONDO:0010480 semapv:UnspecifiedMatching +OMIM:300908 anemia, congenital, nonspherocytic hemolytic, 1 skos:exactMatch MONDO:0010480 semapv:UnspecifiedMatching OMIM:300909 angioedema induced by ace inhibitors, susceptibility to skos:exactMatch MONDO:0100003 semapv:UnspecifiedMatching OMIM:300911 parkinsonism with spasticity, X-linked skos:exactMatch MONDO:0010482 semapv:UnspecifiedMatching OMIM:300912 intellectual developmental disorder, X-linked 98 skos:exactMatch MONDO:0010483 semapv:UnspecifiedMatching @@ -25857,10 +25864,10 @@ OMIM:300955 APOOL skos:exactMatch ncbigene:139322 semapv:UnspecifiedMatching OMIM:300956 BRAFP1 skos:exactMatch hgnc.symbol:18615 semapv:UnspecifiedMatching OMIM:300956 BRAFP1 skos:exactMatch hgnc.symbol:BRAFP1 semapv:UnspecifiedMatching OMIM:300956 BRAFP1 skos:exactMatch ncbigene:286494 semapv:UnspecifiedMatching -OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch MONDO:0010496 semapv:UnspecifiedMatching -OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch Orphanet:457240 semapv:UnspecifiedMatching -OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch UMLS:C0796218 semapv:UnspecifiedMatching -OMIM:300957 intellectual developmental disorder, X-linked 12 skos:exactMatch UMLS:C0796242 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, x-linked, syndromic, kumar type skos:exactMatch MONDO:0010496 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, x-linked, syndromic, kumar type skos:exactMatch Orphanet:457240 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, x-linked, syndromic, kumar type skos:exactMatch UMLS:C0796218 semapv:UnspecifiedMatching +OMIM:300957 intellectual developmental disorder, x-linked, syndromic, kumar type skos:exactMatch UMLS:C0796242 semapv:UnspecifiedMatching OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok type skos:exactMatch MONDO:0010497 semapv:UnspecifiedMatching OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok type skos:exactMatch Orphanet:457260 semapv:UnspecifiedMatching OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok type skos:exactMatch UMLS:C5393299 semapv:UnspecifiedMatching @@ -26127,7 +26134,7 @@ OMIM:301079 DDX53 skos:exactMatch ncbigene:168400 semapv:UnspecifiedMatching OMIM:301080 systemic lupus erythematosus 17 skos:exactMatch MONDO:0859083 semapv:UnspecifiedMatching OMIM:301081 autoinflammatory disease, systemic, X-linked skos:exactMatch MONDO:0800129 semapv:UnspecifiedMatching OMIM:301082 immunodeficiency 102 skos:exactMatch MONDO:0024781 semapv:UnspecifiedMatching -OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to skos:exactMatch MONDO:0020458 semapv:UnspecifiedMatching +OMIM:301083 anemia, congenital, nonspherocytic hemolytic, 9 skos:exactMatch MONDO:0020458 semapv:UnspecifiedMatching OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:28277 semapv:UnspecifiedMatching OMIM:301084 TCEANC skos:exactMatch hgnc.symbol:TCEANC semapv:UnspecifiedMatching OMIM:301084 TCEANC skos:exactMatch ncbigene:170082 semapv:UnspecifiedMatching @@ -26214,6 +26221,21 @@ OMIM:301124 TEX13D skos:exactMatch ncbigene:100132015 semapv:UnspecifiedMatchin OMIM:301125 ZCCHC13 skos:exactMatch hgnc.symbol:31749 semapv:UnspecifiedMatching OMIM:301125 ZCCHC13 skos:exactMatch hgnc.symbol:ZCCHC13 semapv:UnspecifiedMatching OMIM:301125 ZCCHC13 skos:exactMatch ncbigene:389874 semapv:UnspecifiedMatching +OMIM:301126 SYTL5 skos:exactMatch hgnc.symbol:15589 semapv:UnspecifiedMatching +OMIM:301126 SYTL5 skos:exactMatch hgnc.symbol:SYTL5 semapv:UnspecifiedMatching +OMIM:301126 SYTL5 skos:exactMatch ncbigene:94122 semapv:UnspecifiedMatching +OMIM:301128 TRMT2B skos:exactMatch hgnc.symbol:25748 semapv:UnspecifiedMatching +OMIM:301128 TRMT2B skos:exactMatch hgnc.symbol:TRMT2B semapv:UnspecifiedMatching +OMIM:301128 TRMT2B skos:exactMatch ncbigene:79979 semapv:UnspecifiedMatching +OMIM:301129 SATL1 skos:exactMatch hgnc.symbol:27992 semapv:UnspecifiedMatching +OMIM:301129 SATL1 skos:exactMatch hgnc.symbol:SATL1 semapv:UnspecifiedMatching +OMIM:301129 SATL1 skos:exactMatch ncbigene:340562 semapv:UnspecifiedMatching +OMIM:301130 RTL3 skos:exactMatch hgnc.symbol:22997 semapv:UnspecifiedMatching +OMIM:301130 RTL3 skos:exactMatch hgnc.symbol:RTL3 semapv:UnspecifiedMatching +OMIM:301130 RTL3 skos:exactMatch ncbigene:203430 semapv:UnspecifiedMatching +OMIM:301131 RTL4 skos:exactMatch hgnc.symbol:25214 semapv:UnspecifiedMatching +OMIM:301131 RTL4 skos:exactMatch hgnc.symbol:RTL4 semapv:UnspecifiedMatching +OMIM:301131 RTL4 skos:exactMatch ncbigene:340595 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 @@ -33505,8 +33527,8 @@ OMIM:602336 ROR1 skos:exactMatch ncbigene:4919 semapv:UnspecifiedMatching OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:10257 semapv:UnspecifiedMatching OMIM:602337 ROR2 skos:exactMatch hgnc.symbol:ROR2 semapv:UnspecifiedMatching OMIM:602337 ROR2 skos:exactMatch ncbigene:4920 semapv:UnspecifiedMatching -OMIM:602338 PRPF4B skos:exactMatch hgnc.symbol:PRP4K semapv:UnspecifiedMatching -OMIM:602338 PRPF4B skos:exactMatch ncbigene:8899 semapv:UnspecifiedMatching +OMIM:602338 PRP4K skos:exactMatch hgnc.symbol:PRP4K semapv:UnspecifiedMatching +OMIM:602338 PRP4K skos:exactMatch ncbigene:8899 semapv:UnspecifiedMatching OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:10921 semapv:UnspecifiedMatching OMIM:602339 SLC15A2 skos:exactMatch hgnc.symbol:SLC15A2 semapv:UnspecifiedMatching OMIM:602339 SLC15A2 skos:exactMatch ncbigene:6565 semapv:UnspecifiedMatching @@ -38765,6 +38787,7 @@ OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:4518 semapv:UnspecifiedMatching OMIM:604153 NMUR1 skos:exactMatch hgnc.symbol:NMUR1 semapv:UnspecifiedMatching OMIM:604153 NMUR1 skos:exactMatch ncbigene:10316 semapv:UnspecifiedMatching OMIM:604154 alzheimer disease 15 skos:exactMatch MONDO:0011401 semapv:UnspecifiedMatching +OMIM:604154 alzheimer disease 15 skos:exactMatch hgnc.symbol:AD15 semapv:UnspecifiedMatching OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:6508 semapv:UnspecifiedMatching OMIM:604155 LANCL1 skos:exactMatch hgnc.symbol:LANCL1 semapv:UnspecifiedMatching OMIM:604155 LANCL1 skos:exactMatch ncbigene:10314 semapv:UnspecifiedMatching @@ -52626,9 +52649,9 @@ OMIM:608944 FREM1 skos:exactMatch ncbigene:158326 semapv:UnspecifiedMatching OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:25396 semapv:UnspecifiedMatching OMIM:608945 FREM2 skos:exactMatch hgnc.symbol:FREM2 semapv:UnspecifiedMatching OMIM:608945 FREM2 skos:exactMatch ncbigene:341640 semapv:UnspecifiedMatching -OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:25172 semapv:UnspecifiedMatching -OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch hgnc.symbol:FREM3 semapv:UnspecifiedMatching -OMIM:608946 fras1-related extracellular matrix protein 3 skos:exactMatch ncbigene:166752 semapv:UnspecifiedMatching +OMIM:608946 FREM3 skos:exactMatch hgnc.symbol:25172 semapv:UnspecifiedMatching +OMIM:608946 FREM3 skos:exactMatch hgnc.symbol:FREM3 semapv:UnspecifiedMatching +OMIM:608946 FREM3 skos:exactMatch ncbigene:166752 semapv:UnspecifiedMatching OMIM:608947 KCTD13 skos:exactMatch UMLS:C1427765 semapv:UnspecifiedMatching OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:22234 semapv:UnspecifiedMatching OMIM:608947 KCTD13 skos:exactMatch hgnc.symbol:KCTD13 semapv:UnspecifiedMatching @@ -53517,8 +53540,7 @@ OMIM:609278 IZUMO1 skos:exactMatch UMLS:C1825632 semapv:UnspecifiedMatching OMIM:609278 IZUMO1 skos:exactMatch hgnc.symbol:28539 semapv:UnspecifiedMatching OMIM:609278 IZUMO1 skos:exactMatch hgnc.symbol:IZUMO1 semapv:UnspecifiedMatching OMIM:609278 IZUMO1 skos:exactMatch ncbigene:284359 semapv:UnspecifiedMatching -OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:17272 semapv:UnspecifiedMatching -OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:CENPJ semapv:UnspecifiedMatching +OMIM:609279 CENPJ skos:exactMatch hgnc.symbol:CPAP semapv:UnspecifiedMatching OMIM:609279 CENPJ skos:exactMatch ncbigene:55835 semapv:UnspecifiedMatching OMIM:609280 EIF2AK4 skos:exactMatch hgnc.symbol:19687 semapv:UnspecifiedMatching OMIM:609280 EIF2AK4 skos:exactMatch hgnc.symbol:EIF2AK4 semapv:UnspecifiedMatching @@ -53994,7 +54016,7 @@ OMIM:609444 CELA2B skos:exactMatch ncbigene:51032 semapv:UnspecifiedMatching OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:24883 semapv:UnspecifiedMatching OMIM:609445 RXFP3 skos:exactMatch hgnc.symbol:RXFP3 semapv:UnspecifiedMatching OMIM:609445 RXFP3 skos:exactMatch ncbigene:51289 semapv:UnspecifiedMatching -OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy skos:exactMatch MONDO:0012276 semapv:UnspecifiedMatching +OMIM:609446 paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy skos:exactMatch MONDO:0012276 semapv:UnspecifiedMatching OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:30125 semapv:UnspecifiedMatching OMIM:609447 MZB1 skos:exactMatch hgnc.symbol:MZB1 semapv:UnspecifiedMatching OMIM:609447 MZB1 skos:exactMatch ncbigene:51237 semapv:UnspecifiedMatching @@ -56778,9 +56800,9 @@ OMIM:610470 TRPT1 skos:exactMatch ncbigene:83707 semapv:UnspecifiedMatching OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:25723 semapv:UnspecifiedMatching OMIM:610471 VASH2 skos:exactMatch hgnc.symbol:VASH2 semapv:UnspecifiedMatching OMIM:610471 VASH2 skos:exactMatch ncbigene:79805 semapv:UnspecifiedMatching -OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:25718 semapv:UnspecifiedMatching -OMIM:610472 AYTL2 skos:exactMatch hgnc.symbol:LPCAT1 semapv:UnspecifiedMatching -OMIM:610472 AYTL2 skos:exactMatch ncbigene:79888 semapv:UnspecifiedMatching +OMIM:610472 LPCAT1 skos:exactMatch hgnc.symbol:25718 semapv:UnspecifiedMatching +OMIM:610472 LPCAT1 skos:exactMatch hgnc.symbol:LPCAT1 semapv:UnspecifiedMatching +OMIM:610472 LPCAT1 skos:exactMatch ncbigene:79888 semapv:UnspecifiedMatching OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:28985 semapv:UnspecifiedMatching OMIM:610473 LPGAT1 skos:exactMatch hgnc.symbol:LPGAT1 semapv:UnspecifiedMatching OMIM:610473 LPGAT1 skos:exactMatch ncbigene:9926 semapv:UnspecifiedMatching @@ -61406,12 +61428,12 @@ OMIM:612101 PI4K2B skos:exactMatch ncbigene:55300 semapv:UnspecifiedMatching OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:31485 semapv:UnspecifiedMatching OMIM:612102 MIRNLET7G skos:exactMatch hgnc.symbol:MIRLET7G semapv:UnspecifiedMatching OMIM:612102 MIRNLET7G skos:exactMatch ncbigene:406890 semapv:UnspecifiedMatching -OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:26232 semapv:UnspecifiedMatching -OMIM:612103 OBFC2A skos:exactMatch hgnc.symbol:NABP1 semapv:UnspecifiedMatching -OMIM:612103 OBFC2A skos:exactMatch ncbigene:64859 semapv:UnspecifiedMatching -OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:28412 semapv:UnspecifiedMatching -OMIM:612104 OBFC2B skos:exactMatch hgnc.symbol:NABP2 semapv:UnspecifiedMatching -OMIM:612104 OBFC2B skos:exactMatch ncbigene:79035 semapv:UnspecifiedMatching +OMIM:612103 NABP1 skos:exactMatch hgnc.symbol:26232 semapv:UnspecifiedMatching +OMIM:612103 NABP1 skos:exactMatch hgnc.symbol:NABP1 semapv:UnspecifiedMatching +OMIM:612103 NABP1 skos:exactMatch ncbigene:64859 semapv:UnspecifiedMatching +OMIM:612104 NABP2 skos:exactMatch hgnc.symbol:28412 semapv:UnspecifiedMatching +OMIM:612104 NABP2 skos:exactMatch hgnc.symbol:NABP2 semapv:UnspecifiedMatching +OMIM:612104 NABP2 skos:exactMatch ncbigene:79035 semapv:UnspecifiedMatching OMIM:612105 KLLN skos:exactMatch hgnc.symbol:37212 semapv:UnspecifiedMatching OMIM:612105 KLLN skos:exactMatch hgnc.symbol:KLLN semapv:UnspecifiedMatching OMIM:612105 KLLN skos:exactMatch ncbigene:100144748 semapv:UnspecifiedMatching @@ -62698,7 +62720,7 @@ OMIM:612627 seizures, benign familial infantile, 4 skos:exactMatch MONDO:0012965 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:612631 anemia, congenital, nonspherocytic hemolytic, 3 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 @@ -64753,9 +64775,9 @@ OMIM:613468 ASAH1 skos:exactMatch ncbigene:427 semapv:UnspecifiedMatching OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:18374 semapv:UnspecifiedMatching OMIM:613469 HPSE2 skos:exactMatch hgnc.symbol:HPSE2 semapv:UnspecifiedMatching OMIM:613469 HPSE2 skos:exactMatch ncbigene:60495 semapv:UnspecifiedMatching -OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch MONDO:0013275 semapv:UnspecifiedMatching -OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch Orphanet:712 semapv:UnspecifiedMatching -OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency skos:exactMatch UMLS:C3150730 semapv:UnspecifiedMatching +OMIM:613470 anemia, congenital, nonspherocytic hemolytic, 4 skos:exactMatch MONDO:0013275 semapv:UnspecifiedMatching +OMIM:613470 anemia, congenital, nonspherocytic hemolytic, 4 skos:exactMatch Orphanet:712 semapv:UnspecifiedMatching +OMIM:613470 anemia, congenital, nonspherocytic hemolytic, 4 skos:exactMatch UMLS:C3150730 semapv:UnspecifiedMatching OMIM:613471 reynolds syndrome skos:exactMatch MONDO:0013276 semapv:UnspecifiedMatching OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:19703 semapv:UnspecifiedMatching OMIM:613472 ULK3 skos:exactMatch hgnc.symbol:ULK3 semapv:UnspecifiedMatching @@ -65275,9 +65297,9 @@ OMIM:613669 MTPAP skos:exactMatch ncbigene:55149 semapv:UnspecifiedMatching OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features skos:exactMatch MONDO:0013352 semapv:UnspecifiedMatching OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus skos:exactMatch MONDO:0013353 semapv:UnspecifiedMatching OMIM:613672 spastic ataxia 4, autosomal recessive skos:exactMatch MONDO:0013354 semapv:UnspecifiedMatching -OMIM:613673 anemia, congenital dyserythropoietic, type 4 skos:exactMatch MONDO:0013355 semapv:UnspecifiedMatching -OMIM:613673 anemia, congenital dyserythropoietic, type 4 skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching -OMIM:613673 anemia, congenital dyserythropoietic, type 4 skos:exactMatch UMLS:C3150926 semapv:UnspecifiedMatching +OMIM:613673 anemia, congenital dyserythropoietic, type iva skos:exactMatch MONDO:0013355 semapv:UnspecifiedMatching +OMIM:613673 anemia, congenital dyserythropoietic, type iva skos:exactMatch Orphanet:293825 semapv:UnspecifiedMatching +OMIM:613673 anemia, congenital dyserythropoietic, type iva skos:exactMatch UMLS:C3150926 semapv:UnspecifiedMatching OMIM:613674 vesicoureteral reflux 3 skos:exactMatch MONDO:0013356 semapv:UnspecifiedMatching OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch MONDO:0013357 semapv:UnspecifiedMatching OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb skos:exactMatch Orphanet:137634 semapv:UnspecifiedMatching @@ -67484,8 +67506,7 @@ OMIM:614675 bone marrow failure syndrome 1 skos:exactMatch Orphanet:314399 sema 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 hgnc.symbol:DNAAF19 semapv:UnspecifiedMatching OMIM:614677 CCDC103 skos:exactMatch ncbigene:388389 semapv:UnspecifiedMatching OMIM:614678 pontocerebellar hypoplasia, type 1b skos:exactMatch MONDO:0013853 semapv:UnspecifiedMatching OMIM:614679 ciliary dyskinesia, primary, 17 skos:exactMatch MONDO:0013854 semapv:UnspecifiedMatching @@ -71493,7 +71514,7 @@ OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:21073 semapv:UnspecifiedMatching OMIM:616412 TXNDC5 skos:exactMatch hgnc.symbol:TXNDC5 semapv:UnspecifiedMatching OMIM:616412 TXNDC5 skos:exactMatch ncbigene:81567 semapv:UnspecifiedMatching OMIM:616413 basal ganglia calcification, idiopathic, 6 skos:exactMatch MONDO:0014628 semapv:UnspecifiedMatching -OMIM:616414 autoimmune interstitial lung, joint, and kidney disease skos:exactMatch MONDO:0014629 semapv:UnspecifiedMatching +OMIM:616414 autoinflammation and autoimmunity, systemic, with immune dysregulation skos:exactMatch MONDO:0014629 semapv:UnspecifiedMatching OMIM:616415 familial adenomatous polyposis 3 skos:exactMatch MONDO:0014630 semapv:UnspecifiedMatching OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:20973 semapv:UnspecifiedMatching OMIM:616416 ADGRL1 skos:exactMatch hgnc.symbol:ADGRL1 semapv:UnspecifiedMatching @@ -73852,7 +73873,7 @@ OMIM:617402 cutis laxa, autosomal recessive, type 2c skos:exactMatch UMLS:C44793 OMIM:617403 cutis laxa, autosomal recessive, type 2d skos:exactMatch MONDO:0027451 semapv:UnspecifiedMatching OMIM:617403 cutis laxa, autosomal recessive, type 2d skos:exactMatch Orphanet:357074 semapv:UnspecifiedMatching OMIM:617403 cutis laxa, autosomal recessive, type 2d skos:exactMatch UMLS:C4479409 semapv:UnspecifiedMatching -OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability skos:exactMatch MONDO:0024607 semapv:UnspecifiedMatching +OMIM:617404 muscular dystrophy, congenital, with cataracts and impaired intellectual development skos:exactMatch MONDO:0024607 semapv:UnspecifiedMatching OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly skos:exactMatch MONDO:0054565 semapv:UnspecifiedMatching OMIM:617406 bardet-biedl syndrome 21 skos:exactMatch MONDO:0044308 semapv:UnspecifiedMatching OMIM:617407 PCGF5 skos:exactMatch hgnc.symbol:28264 semapv:UnspecifiedMatching @@ -76655,7 +76676,7 @@ OMIM:618658 zimmermann-laband syndrome 3 skos:exactMatch UMLS:C5231447 semapv:U OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch MONDO:0032855 semapv:UnspecifiedMatching OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch Orphanet:528084 semapv:UnspecifiedMatching OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies skos:exactMatch UMLS:C5231448 semapv:UnspecifiedMatching -OMIM:618660 hemolytic anemia due to glutathione reductase deficiency skos:exactMatch MONDO:0019531 semapv:UnspecifiedMatching +OMIM:618660 anemia, congenital, nonspherocytic hemolytic, 10 skos:exactMatch MONDO:0019531 semapv:UnspecifiedMatching OMIM:618661 CFAP70 skos:exactMatch hgnc.symbol:30726 semapv:UnspecifiedMatching OMIM:618661 CFAP70 skos:exactMatch hgnc.symbol:CFAP70 semapv:UnspecifiedMatching OMIM:618661 CFAP70 skos:exactMatch ncbigene:118491 semapv:UnspecifiedMatching @@ -80069,7 +80090,7 @@ OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:30535 semapv:UnspecifiedMatching OMIM:620136 NUDCD2 skos:exactMatch hgnc.symbol:NUDCD2 semapv:UnspecifiedMatching OMIM:620136 NUDCD2 skos:exactMatch ncbigene:134492 semapv:UnspecifiedMatching OMIM:620137 mitochondrial complex 3 deficiency, nuclear type 11 skos:exactMatch MONDO:0859321 semapv:UnspecifiedMatching -OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis skos:exactMatch MONDO:0859322 semapv:UnspecifiedMatching +OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 skos:exactMatch MONDO:0859322 semapv:UnspecifiedMatching OMIM:620139 combined oxidative phosphorylation deficiency 56 skos:exactMatch MONDO:0859323 semapv:UnspecifiedMatching OMIM:620140 SYCN skos:exactMatch hgnc.symbol:18442 semapv:UnspecifiedMatching OMIM:620140 SYCN skos:exactMatch hgnc.symbol:SYCN semapv:UnspecifiedMatching @@ -80837,11 +80858,9 @@ OMIM:620528 neuronopathy, distal hereditary motor, autosomal dominant 11 skos:ex OMIM:620529 RNF121 skos:exactMatch hgnc.symbol:21070 semapv:UnspecifiedMatching OMIM:620529 RNF121 skos:exactMatch hgnc.symbol:RNF121 semapv:UnspecifiedMatching OMIM:620529 RNF121 skos:exactMatch ncbigene:55298 semapv:UnspecifiedMatching -OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:19225 semapv:UnspecifiedMatching -OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:C4orf3 semapv:UnspecifiedMatching +OMIM:620530 C4ORF3 skos:exactMatch hgnc.symbol:ARLN semapv:UnspecifiedMatching OMIM:620530 C4ORF3 skos:exactMatch ncbigene:401152 semapv:UnspecifiedMatching -OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:40032 semapv:UnspecifiedMatching -OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:SMIM6 semapv:UnspecifiedMatching +OMIM:620531 SMIM6 skos:exactMatch hgnc.symbol:ERLN semapv:UnspecifiedMatching OMIM:620531 SMIM6 skos:exactMatch ncbigene:100130933 semapv:UnspecifiedMatching OMIM:620532 hyper-ige syndrome 6, autosomal dominant, with recurrent infections skos:exactMatch MONDO:0957807 semapv:UnspecifiedMatching OMIM:620533 LINC00520 skos:exactMatch hgnc.symbol:19843 semapv:UnspecifiedMatching @@ -81622,6 +81641,7 @@ 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:620888 neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1 skos:exactMatch MONDO:0975745 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 @@ -81651,7 +81671,6 @@ 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 @@ -81674,6 +81693,8 @@ OMIM:620908 arterial tortuosity-bone fragility syndrome skos:exactMatch MONDO:09 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 +OMIM:620910 otofacial neurodevelopmental syndrome skos:exactMatch MONDO:0975705 semapv:UnspecifiedMatching +OMIM:620911 spastic paraplegia 92, autosomal recessive skos:exactMatch MONDO:0975746 semapv:UnspecifiedMatching OMIM:620912 MICALL2 skos:exactMatch hgnc.symbol:29672 semapv:UnspecifiedMatching OMIM:620912 MICALL2 skos:exactMatch hgnc.symbol:MICALL2 semapv:UnspecifiedMatching OMIM:620912 MICALL2 skos:exactMatch ncbigene:79778 semapv:UnspecifiedMatching @@ -81689,6 +81710,7 @@ OMIM:620915 MYO15B skos:exactMatch ncbigene:80022 semapv:UnspecifiedMatching OMIM:620916 ZSCAN5A skos:exactMatch hgnc.symbol:23710 semapv:UnspecifiedMatching OMIM:620916 ZSCAN5A skos:exactMatch hgnc.symbol:ZSCAN5A semapv:UnspecifiedMatching OMIM:620916 ZSCAN5A skos:exactMatch ncbigene:79149 semapv:UnspecifiedMatching +OMIM:620917 spermatogenic failure 95 skos:exactMatch MONDO:0975747 semapv:UnspecifiedMatching OMIM:620918 ZSCAN5B skos:exactMatch hgnc.symbol:34246 semapv:UnspecifiedMatching OMIM:620918 ZSCAN5B skos:exactMatch hgnc.symbol:ZSCAN5B semapv:UnspecifiedMatching OMIM:620918 ZSCAN5B skos:exactMatch ncbigene:342933 semapv:UnspecifiedMatching @@ -81704,12 +81726,14 @@ OMIM:620921 ZNF512 skos:exactMatch ncbigene:84450 semapv:UnspecifiedMatching OMIM:620922 LRRIQ1 skos:exactMatch hgnc.symbol:25708 semapv:UnspecifiedMatching OMIM:620922 LRRIQ1 skos:exactMatch hgnc.symbol:LRRIQ1 semapv:UnspecifiedMatching OMIM:620922 LRRIQ1 skos:exactMatch ncbigene:84125 semapv:UnspecifiedMatching +OMIM:620923 parkinson disease 26, autosomal dominant, susceptibility to skos:exactMatch MONDO:0975748 semapv:UnspecifiedMatching OMIM:620924 NLE1 skos:exactMatch hgnc.symbol:19889 semapv:UnspecifiedMatching OMIM:620924 NLE1 skos:exactMatch hgnc.symbol:NLE1 semapv:UnspecifiedMatching OMIM:620924 NLE1 skos:exactMatch ncbigene:54475 semapv:UnspecifiedMatching OMIM:620925 LRRC31 skos:exactMatch hgnc.symbol:26261 semapv:UnspecifiedMatching OMIM:620925 LRRC31 skos:exactMatch hgnc.symbol:LRRC31 semapv:UnspecifiedMatching OMIM:620925 LRRC31 skos:exactMatch ncbigene:79782 semapv:UnspecifiedMatching +OMIM:620926 immunodeficiency 125 skos:exactMatch MONDO:0975749 semapv:UnspecifiedMatching OMIM:620927 LRRC46 skos:exactMatch hgnc.symbol:25047 semapv:UnspecifiedMatching OMIM:620927 LRRC46 skos:exactMatch hgnc.symbol:LRRC46 semapv:UnspecifiedMatching OMIM:620927 LRRC46 skos:exactMatch ncbigene:90506 semapv:UnspecifiedMatching @@ -81722,6 +81746,7 @@ 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:620931 immunodeficiency 126, susceptibility to skos:exactMatch MONDO:0975761 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 @@ -81775,589 +81800,655 @@ OMIM:620959 USP35 skos:exactMatch ncbigene:57558 semapv:UnspecifiedMatching OMIM:620961 SNX25 skos:exactMatch hgnc.symbol:21883 semapv:UnspecifiedMatching OMIM:620961 SNX25 skos:exactMatch hgnc.symbol:SNX25 semapv:UnspecifiedMatching OMIM:620961 SNX25 skos:exactMatch ncbigene:83891 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 -omim.ps:102200 Pituitary adenoma skos:exactMatch MONDO:0017824 semapv:UnspecifiedMatching -omim.ps:102300 Restless legs syndrome skos:exactMatch MONDO:0100170 semapv:UnspecifiedMatching -omim.ps:103900 Hyperaldosteronism skos:exactMatch MONDO:0016525 semapv:UnspecifiedMatching -omim.ps:104290 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 semapv:UnspecifiedMatching -omim.ps:104500 Amelogenesis imperfecta skos:exactMatch MONDO:0019507 semapv:UnspecifiedMatching -omim.ps:105210 Amyloidosis, hereditary systemic skos:exactMatch MONDO:0007100 semapv:UnspecifiedMatching -omim.ps:105250 Amyloidosis, primary localized cutaneous skos:exactMatch MONDO:0007101 semapv:UnspecifiedMatching -omim.ps:105400 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0005144 semapv:UnspecifiedMatching -omim.ps:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis skos:exactMatch MONDO:0017161 semapv:UnspecifiedMatching -omim.ps:105650 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 semapv:UnspecifiedMatching -omim.ps:105800 Aneurysm, intracranial berry skos:exactMatch MONDO:0016483 semapv:UnspecifiedMatching -omim.ps:106100 Angioedema, Hereditary skos:exactMatch MONDO:0019623 semapv:UnspecifiedMatching -omim.ps:106210 Aniridia skos:exactMatch MONDO:0007119 semapv:UnspecifiedMatching -omim.ps:106300 Spondyloarthropathy, susceptibility to skos:exactMatch MONDO:0024512 semapv:UnspecifiedMatching -omim.ps:106600 Tooth agenesis, selective skos:exactMatch MONDO:0005486 semapv:UnspecifiedMatching -omim.ps:107250 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 semapv:UnspecifiedMatching -omim.ps:107480 Townes-Brocks syndrome skos:exactMatch MONDO:0007142 semapv:UnspecifiedMatching -omim.ps:107970 Arrhythmogenic right ventricular dysplasia skos:exactMatch MONDO:0016342 semapv:UnspecifiedMatching -omim.ps:108120 Arthrogryposis, distal skos:exactMatch MONDO:0019942 semapv:UnspecifiedMatching -omim.ps:108300 Stickler syndrome skos:exactMatch MONDO:0019354 semapv:UnspecifiedMatching -omim.ps:108600 Spastic ataxia skos:exactMatch MONDO:0017845 semapv:UnspecifiedMatching -omim.ps:108720 Atelosteogenesis skos:exactMatch MONDO:0000389 semapv:UnspecifiedMatching -omim.ps:108800 Atrial septal defect skos:exactMatch MONDO:0006664 semapv:UnspecifiedMatching -omim.ps:109400 Basal cell nevus syndrome skos:exactMatch MONDO:0007187 semapv:UnspecifiedMatching -omim.ps:109720 Biliary cirrhosis, primary skos:exactMatch MONDO:0005388 semapv:UnspecifiedMatching -omim.ps:109730 Aortic valve disease skos:exactMatch MONDO:0007194 semapv:UnspecifiedMatching -omim.ps:112240 Cole-Carpenter syndrome skos:exactMatch MONDO:0016085 semapv:UnspecifiedMatching -omim.ps:113650 Branchiootorenal syndrome skos:exactMatch MONDO:0007029 semapv:UnspecifiedMatching -omim.ps:113700 Breasts and/or nipples, aplasia or hypoplasia of skos:exactMatch MONDO:0015855 semapv:UnspecifiedMatching -omim.ps:113800 Epidermolytic hyperkeratosis skos:exactMatch MONDO:0007239 semapv:UnspecifiedMatching -omim.ps:113900 Progressive familial heart block skos:exactMatch MONDO:0019490 semapv:UnspecifiedMatching -omim.ps:114580 Familial candidiasis skos:exactMatch MONDO:0015279 semapv:UnspecifiedMatching -omim.ps:115150 Cardiofaciocutaneous syndrome skos:exactMatch MONDO:0015280 semapv:UnspecifiedMatching -omim.ps:115200 Dilated cardiomyopathy skos:exactMatch MONDO:0016333 semapv:UnspecifiedMatching -omim.ps:115210 Familial restrictive cardiomyopathy skos:exactMatch MONDO:0016340 semapv:UnspecifiedMatching -omim.ps:115430 Carpal tunnel syndrome skos:exactMatch MONDO:0007275 semapv:UnspecifiedMatching -omim.ps:116200 Cataract skos:exactMatch MONDO:0005129 semapv:UnspecifiedMatching -omim.ps:116860 Cerebral cavernous malformations skos:exactMatch MONDO:0031037 semapv:UnspecifiedMatching -omim.ps:117000 Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) skos:exactMatch MONDO:0019952 semapv:UnspecifiedMatching -omim.ps:118100 Klippel-Feil syndrome skos:exactMatch MONDO:0001029 semapv:UnspecifiedMatching -omim.ps:118220 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 semapv:UnspecifiedMatching -omim.ps:118450 Alagille syndrome skos:exactMatch MONDO:0007318 semapv:UnspecifiedMatching -omim.ps:119530 Orofacial cleft skos:exactMatch MONDO:0000358 semapv:UnspecifiedMatching -omim.ps:119580 Blepharocheilodontic syndrome skos:exactMatch MONDO:0007339 semapv:UnspecifiedMatching -omim.ps:120100 Familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 semapv:UnspecifiedMatching -omim.ps:120435 Colorectal cancer, hereditary nonpolyposis skos:exactMatch MONDO:0018630 semapv:UnspecifiedMatching -omim.ps:120970 Cone-rod dystrophy/Cone dystrophy skos:exactMatch MONDO:0015993 semapv:UnspecifiedMatching -omim.ps:121200 Seizures, benign familial neonatal skos:exactMatch MONDO:0016027 semapv:UnspecifiedMatching -omim.ps:121210 Seizures, familial febrile skos:exactMatch MONDO:0000032 semapv:UnspecifiedMatching -omim.ps:121400 Cornea plana skos:exactMatch MONDO:0000733 semapv:UnspecifiedMatching -omim.ps:122000 Corneal dystrophy, posterior polymorphous skos:exactMatch MONDO:0020364 semapv:UnspecifiedMatching -omim.ps:122100 Corneal dystrophy, Meesmann skos:exactMatch MONDO:0007379 semapv:UnspecifiedMatching -omim.ps:122470 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 semapv:UnspecifiedMatching -omim.ps:123000 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 semapv:UnspecifiedMatching -omim.ps:123100 Craniosynostosis skos:exactMatch MONDO:0015469 semapv:UnspecifiedMatching -omim.ps:123700 Cutis laxa skos:exactMatch MONDO:0100237 semapv:UnspecifiedMatching -omim.ps:124000 Mitochondrial complex III deficiency, nuclear type skos:exactMatch MONDO:0020811 semapv:UnspecifiedMatching -omim.ps:124900 Deafness, autosomal dominant skos:exactMatch MONDO:0019587 semapv:UnspecifiedMatching -omim.ps:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0007432 semapv:UnspecifiedMatching -omim.ps:126200 Multiple sclerosis, susceptibility to skos:exactMatch MONDO:0007462 semapv:UnspecifiedMatching -omim.ps:126800 Duane retraction syndrome skos:exactMatch MONDO:0007473 semapv:UnspecifiedMatching -omim.ps:127000 Kenny-Caffey syndrome skos:exactMatch MONDO:0016516 semapv:UnspecifiedMatching -omim.ps:127500 Dyschromatosis universalis hereditaria skos:exactMatch MONDO:0000736 semapv:UnspecifiedMatching -omim.ps:127550 Dyskeratosis congenita skos:exactMatch MONDO:0015780 semapv:UnspecifiedMatching -omim.ps:128100 Dystonia skos:exactMatch MONDO:0044807 semapv:UnspecifiedMatching -omim.ps:128200 Episodic kinesigenic dyskinesia skos:exactMatch MONDO:0044202 semapv:UnspecifiedMatching -omim.ps:130000 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 semapv:UnspecifiedMatching -omim.ps:131100 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 semapv:UnspecifiedMatching -omim.ps:131760 Epidermolysis Bullosa Simplex skos:exactMatch MONDO:0017610 semapv:UnspecifiedMatching -omim.ps:132100 Photoparoxysmal response skos:exactMatch MONDO:0015643 semapv:UnspecifiedMatching -omim.ps:132400 Epiphyseal dysplasia, multiple skos:exactMatch MONDO:0016648 semapv:UnspecifiedMatching -omim.ps:133100 Erythrocytosis, familial skos:exactMatch MONDO:0001115 semapv:UnspecifiedMatching -omim.ps:133200 Erythrokeratodermia variabilis et progressiva skos:exactMatch MONDO:0017851 semapv:UnspecifiedMatching -omim.ps:133700 Exostoses, Multiple skos:exactMatch MONDO:0005508 semapv:UnspecifiedMatching -omim.ps:133780 Exudative vitreoretinopathy skos:exactMatch MONDO:0019516 semapv:UnspecifiedMatching -omim.ps:134600 Fanconi renotubular syndrome skos:exactMatch MONDO:0100238 semapv:UnspecifiedMatching -omim.ps:135150 Birt-Hogg-Dube syndrome skos:exactMatch MONDO:0800444 semapv:UnspecifiedMatching -omim.ps:135300 Gingival fibromatosis skos:exactMatch MONDO:0016070 semapv:UnspecifiedMatching -omim.ps:135500 Zimmermann-Laband syndrome skos:exactMatch MONDO:0000200 semapv:UnspecifiedMatching -omim.ps:135700 Fibrosis of extraocular muscles, congenital skos:exactMatch MONDO:0007614 semapv:UnspecifiedMatching -omim.ps:135900 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 semapv:UnspecifiedMatching -omim.ps:136500 Focal facial dermal dysplasia skos:exactMatch MONDO:0018363 semapv:UnspecifiedMatching -omim.ps:136520 Foveal hypoplasia skos:exactMatch MONDO:0044203 semapv:UnspecifiedMatching -omim.ps:136550 Macular dystrophy, retinal skos:exactMatch MONDO:0031166 semapv:UnspecifiedMatching -omim.ps:136760 Frontonasal dysplasia skos:exactMatch MONDO:0016643 semapv:UnspecifiedMatching -omim.ps:136800 Corneal dystrophy, Fuchs endothelial skos:exactMatch MONDO:0005321 semapv:UnspecifiedMatching -omim.ps:137800 Glioma skos:exactMatch MONDO:0100242 semapv:UnspecifiedMatching -omim.ps:137950 Glomerulopathy with fibronectin deposits skos:exactMatch MONDO:0007671 semapv:UnspecifiedMatching -omim.ps:138800 Goiter, multinodular skos:exactMatch MONDO:0000334 semapv:UnspecifiedMatching -omim.ps:141200 Hematuria, benign familial skos:exactMatch MONDO:0957317 semapv:UnspecifiedMatching -omim.ps:141500 Migraine, familial hemiplegic skos:exactMatch MONDO:0000700 semapv:UnspecifiedMatching -omim.ps:142340 Diaphragmatic hernia skos:exactMatch MONDO:0005711 semapv:UnspecifiedMatching -omim.ps:142623 Hirschsprung disease skos:exactMatch MONDO:0018309 semapv:UnspecifiedMatching -omim.ps:142690 Acne inversa skos:exactMatch MONDO:0024516 semapv:UnspecifiedMatching -omim.ps:142700 Developmental dysplasia of the hip skos:exactMatch MONDO:0000158 semapv:UnspecifiedMatching -omim.ps:143880 Hypercalcemia, infantile skos:exactMatch MONDO:0000212 semapv:UnspecifiedMatching -omim.ps:143890 Hypercholesterolemia, familial skos:exactMatch MONDO:0005439 semapv:UnspecifiedMatching -omim.ps:144200 Palmoplantar keratoderma, epidermolytic skos:exactMatch MONDO:0968949 semapv:UnspecifiedMatching -omim.ps:145000 Hyperparathyroidism skos:exactMatch MONDO:0016166 semapv:UnspecifiedMatching -omim.ps:145260 Pseudohypoaldosteronism, type II skos:exactMatch MONDO:0019162 semapv:UnspecifiedMatching -omim.ps:145420 Teebi hypertelorism syndrome skos:exactMatch MONDO:0030639 semapv:UnspecifiedMatching -omim.ps:145600 Malignant hyperthermia skos:exactMatch MONDO:0800188 semapv:UnspecifiedMatching -omim.ps:145980 Hypocalciuric hypercalcemia skos:exactMatch MONDO:0018458 semapv:UnspecifiedMatching -omim.ps:146200 Hypoparathyroidism, familial skos:exactMatch MONDO:0016390 semapv:UnspecifiedMatching -omim.ps:146590 Ichthyosis hystrix skos:exactMatch MONDO:0859383 semapv:UnspecifiedMatching -omim.ps:147060 Hyper-IgE recurrent infection syndrome skos:exactMatch MONDO:0018037 semapv:UnspecifiedMatching -omim.ps:147920 Kabuki syndrome skos:exactMatch MONDO:0016512 semapv:UnspecifiedMatching -omim.ps:147950 Hypogonadotropic hypogonadism with or without anosmia skos:exactMatch MONDO:0018555 semapv:UnspecifiedMatching -omim.ps:148210 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 semapv:UnspecifiedMatching -omim.ps:148300 Keratoconus skos:exactMatch MONDO:0015486 semapv:UnspecifiedMatching -omim.ps:149400 Hyperekplexia skos:exactMatch MONDO:0021022 semapv:UnspecifiedMatching -omim.ps:149730 Lacrimoauriculodentodigital syndrome skos:exactMatch MONDO:0007872 semapv:UnspecifiedMatching -omim.ps:151100 LEOPARD syndrome skos:exactMatch MONDO:0007893 semapv:UnspecifiedMatching -omim.ps:151660 Lipodystrophy, familial partial skos:exactMatch MONDO:0020088 semapv:UnspecifiedMatching -omim.ps:153100 Lymphatic malformation skos:exactMatch MONDO:0019313 semapv:UnspecifiedMatching -omim.ps:153600 Macroglobulinemia, Waldenstrom skos:exactMatch MONDO:0100280 semapv:UnspecifiedMatching -omim.ps:153840 Macular dystrophy, vitelliform skos:exactMatch MONDO:0000390 semapv:UnspecifiedMatching -omim.ps:154500 Treacher Collins syndrome skos:exactMatch MONDO:0002457 semapv:UnspecifiedMatching -omim.ps:155600 Melanoma, cutaneous malignant skos:exactMatch MONDO:0024462 semapv:UnspecifiedMatching -omim.ps:156200 Intellectual developmental disorder, autosomal dominant skos:exactMatch MONDO:0100172 semapv:UnspecifiedMatching -omim.ps:156610 Skin creases, congenital symmetric circumferential skos:exactMatch MONDO:0000204 semapv:UnspecifiedMatching -omim.ps:157300 Migraine with or without aura, susceptibility to skos:exactMatch MONDO:0100246 semapv:UnspecifiedMatching -omim.ps:157600 Mirror movements skos:exactMatch MONDO:0016558 semapv:UnspecifiedMatching -omim.ps:157640 Progressive external ophthalmoplegia with mtDNA deletions skos:exactMatch MONDO:0000090 semapv:UnspecifiedMatching -omim.ps:157700 Mitral valve prolapse, myxomatous skos:exactMatch MONDO:0008004 semapv:UnspecifiedMatching -omim.ps:158350 Cowden disease skos:exactMatch MONDO:0016063 semapv:UnspecifiedMatching -omim.ps:158600 Spinal muscular atrophy, lower extremity-predominant skos:exactMatch MONDO:0018190 semapv:UnspecifiedMatching -omim.ps:158810 Bethlem myopathy skos:exactMatch MONDO:0008029 semapv:UnspecifiedMatching -omim.ps:158900 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 semapv:UnspecifiedMatching -omim.ps:160120 Episodic ataxia skos:exactMatch MONDO:0016227 semapv:UnspecifiedMatching -omim.ps:160150 Myopathy, centronuclear skos:exactMatch MONDO:0018947 semapv:UnspecifiedMatching -omim.ps:160500 Myopathy, distal skos:exactMatch MONDO:0018949 semapv:UnspecifiedMatching -omim.ps:160565 Myopathy, tubular aggregate skos:exactMatch MONDO:0008051 semapv:UnspecifiedMatching -omim.ps:160700 Myopia skos:exactMatch MONDO:0001384 semapv:UnspecifiedMatching -omim.ps:160900 Myotonic dystrophy skos:exactMatch MONDO:0016107 semapv:UnspecifiedMatching -omim.ps:161050 Nail disorder, nonsyndromic congenital skos:exactMatch MONDO:0019284 semapv:UnspecifiedMatching -omim.ps:161400 Narcolepsy skos:exactMatch MONDO:0100554 semapv:UnspecifiedMatching -omim.ps:161800 Nemaline myopathy skos:exactMatch MONDO:0018958 semapv:UnspecifiedMatching -omim.ps:161950 IgA nephropathy skos:exactMatch MONDO:0100555 semapv:UnspecifiedMatching -omim.ps:162000 Tubulointerstitial kidney disease skos:exactMatch MONDO:0000608 semapv:UnspecifiedMatching -omim.ps:162091 Schwannomatosis skos:exactMatch MONDO:0008075 semapv:UnspecifiedMatching -omim.ps:162400 Hereditary sensory and autonomic neuropathy skos:exactMatch MONDO:0015364 semapv:UnspecifiedMatching -omim.ps:163950 Noonan syndrome skos:exactMatch MONDO:0018997 semapv:UnspecifiedMatching -omim.ps:164210 Craniofacial Microsomia skos:exactMatch MONDO:0015397 semapv:UnspecifiedMatching -omim.ps:164280 Feingold syndrome skos:exactMatch MONDO:0015267 semapv:UnspecifiedMatching -omim.ps:164300 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 semapv:UnspecifiedMatching -omim.ps:164310 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 semapv:UnspecifiedMatching -omim.ps:164400 Spinocerebellar ataxia skos:exactMatch MONDO:0020380 semapv:UnspecifiedMatching -omim.ps:165500 Optic atrophy skos:exactMatch MONDO:0043878 semapv:UnspecifiedMatching -omim.ps:166200 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 semapv:UnspecifiedMatching -omim.ps:166780 Otofaciocervical syndrome skos:exactMatch MONDO:0008163 semapv:UnspecifiedMatching -omim.ps:166800 Otosclerosis skos:exactMatch MONDO:0005349 semapv:UnspecifiedMatching -omim.ps:167030 Nephrolithiasis, calcium oxalate skos:exactMatch MONDO:0957318 semapv:UnspecifiedMatching -omim.ps:167200 Pachyonychia congenita skos:exactMatch MONDO:0016471 semapv:UnspecifiedMatching -omim.ps:167250 Paget disease of bone skos:exactMatch MONDO:0005382 semapv:UnspecifiedMatching -omim.ps:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia skos:exactMatch MONDO:0000507 semapv:UnspecifiedMatching -omim.ps:167870 Panic disorder skos:exactMatch MONDO:0031240 semapv:UnspecifiedMatching -omim.ps:168000 Pheochromocytoma/paraganglioma syndrome skos:exactMatch MONDO:0000448 semapv:UnspecifiedMatching -omim.ps:168500 Parietal foramina skos:exactMatch MONDO:0018953 semapv:UnspecifiedMatching -omim.ps:168600 Parkinson disease skos:exactMatch MONDO:0005180 semapv:UnspecifiedMatching -omim.ps:169150 Macular dystrophy, patterned skos:exactMatch MONDO:0020381 semapv:UnspecifiedMatching -omim.ps:173900 Polycystic kidney disease skos:exactMatch MONDO:0020642 semapv:UnspecifiedMatching -omim.ps:174050 Polycystic liver disease skos:exactMatch MONDO:0000447 semapv:UnspecifiedMatching -omim.ps:174200 Polydactyly, postaxial skos:exactMatch MONDO:0020927 semapv:UnspecifiedMatching -omim.ps:174400 Polydactyly, preaxial skos:exactMatch MONDO:0017425 semapv:UnspecifiedMatching -omim.ps:175100 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 semapv:UnspecifiedMatching -omim.ps:175780 Brain small vessel disease skos:exactMatch MONDO:0020496 semapv:UnspecifiedMatching -omim.ps:175800 Porokeratosis skos:exactMatch MONDO:0006602 semapv:UnspecifiedMatching -omim.ps:176400 Precocious puberty, central skos:exactMatch MONDO:0019165 semapv:UnspecifiedMatching -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 -omim.ps:179010 Pyloric stenosis, infantile hypertrophic skos:exactMatch MONDO:0100239 semapv:UnspecifiedMatching -omim.ps:179800 Distal renal tubular acidosis skos:exactMatch MONDO:0015827 semapv:UnspecifiedMatching -omim.ps:179850 Reticulate pigment disorders skos:exactMatch MONDO:0000118 semapv:UnspecifiedMatching -omim.ps:180500 Axenfeld-Rieger syndrome skos:exactMatch MONDO:0019187 semapv:UnspecifiedMatching -omim.ps:180849 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 semapv:UnspecifiedMatching -omim.ps:180860 Silver-Russell syndrome skos:exactMatch MONDO:0008394 semapv:UnspecifiedMatching -omim.ps:182250 Singleton-Merten syndrome skos:exactMatch MONDO:0008429 semapv:UnspecifiedMatching -omim.ps:182960 Neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch MONDO:0015362 semapv:UnspecifiedMatching -omim.ps:183600 Split-hand/foot malformation skos:exactMatch MONDO:0016576 semapv:UnspecifiedMatching -omim.ps:184255 Spondylometaphyseal dysplasia skos:exactMatch MONDO:0016763 semapv:UnspecifiedMatching -omim.ps:184260 Odontochondrodysplasia skos:exactMatch MONDO:0031169 semapv:UnspecifiedMatching -omim.ps:184450 Stuttering, familial persistent skos:exactMatch MONDO:0000723 semapv:UnspecifiedMatching -omim.ps:184840 Otospondylomegaepiphyseal dysplasia skos:exactMatch MONDO:0008975 semapv:UnspecifiedMatching -omim.ps:185800 Proximal symphalangism skos:exactMatch MONDO:0008511 semapv:UnspecifiedMatching -omim.ps:186500 Multiple synostoses syndrome skos:exactMatch MONDO:0017923 semapv:UnspecifiedMatching -omim.ps:187300 Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600}) skos:exactMatch MONDO:0019180 semapv:UnspecifiedMatching -omim.ps:187950 Thrombocythemia skos:exactMatch MONDO:0019111 semapv:UnspecifiedMatching -omim.ps:188050 Thrombophilia skos:exactMatch MONDO:0100240 semapv:UnspecifiedMatching -omim.ps:188550 Thyroid cancer, nonmedullary skos:exactMatch MONDO:0017896 semapv:UnspecifiedMatching -omim.ps:188580 Thyrotoxic periodic paralysis skos:exactMatch MONDO:0019201 semapv:UnspecifiedMatching -omim.ps:189800 Preeclampsia/eclampsia skos:exactMatch MONDO:0005081 semapv:UnspecifiedMatching -omim.ps:190300 Tremor, hereditary essential skos:exactMatch MONDO:0003233 semapv:UnspecifiedMatching -omim.ps:190350 Trichorhinophalangeal syndrome skos:exactMatch MONDO:0017951 semapv:UnspecifiedMatching -omim.ps:190440 Trigonocephaly, isolated skos:exactMatch MONDO:0018065 semapv:UnspecifiedMatching -omim.ps:191100 Tuberous sclerosis skos:exactMatch MONDO:0001734 semapv:UnspecifiedMatching -omim.ps:191830 Renal hypodysplasia/aplasia skos:exactMatch MONDO:0018470 semapv:UnspecifiedMatching -omim.ps:192500 Long QT syndrome skos:exactMatch MONDO:0019171 semapv:UnspecifiedMatching -omim.ps:192600 Cardiomyopathy, familial hypertrophic skos:exactMatch MONDO:0024573 semapv:UnspecifiedMatching -omim.ps:193000 Vesicoureteral reflux skos:exactMatch MONDO:0017329 semapv:UnspecifiedMatching -omim.ps:193100 Hypophosphatemic rickets skos:exactMatch MONDO:0000044 semapv:UnspecifiedMatching -omim.ps:193500 Waardenburg syndrome skos:exactMatch MONDO:0018094 semapv:UnspecifiedMatching -omim.ps:193670 WHIM syndrome skos:exactMatch MONDO:0023880 semapv:UnspecifiedMatching -omim.ps:193900 White sponge nevus skos:exactMatch MONDO:0015748 semapv:UnspecifiedMatching -omim.ps:194070 Wilms tumor skos:exactMatch MONDO:0003321 semapv:UnspecifiedMatching -omim.ps:200600 Achondrogenesis skos:exactMatch MONDO:0019648 semapv:UnspecifiedMatching -omim.ps:201000 Carpenter syndrome skos:exactMatch MONDO:0019012 semapv:UnspecifiedMatching -omim.ps:202200 Glucocorticoid deficiency skos:exactMatch MONDO:0008733 semapv:UnspecifiedMatching -omim.ps:202700 Neutropenia, severe congenital skos:exactMatch MONDO:0018542 semapv:UnspecifiedMatching -omim.ps:203100 Oculocutaneous albinism skos:exactMatch MONDO:0018910 semapv:UnspecifiedMatching -omim.ps:203300 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 semapv:UnspecifiedMatching -omim.ps:203650 Alopecia-intellectual disability syndrome skos:exactMatch MONDO:0008756 semapv:UnspecifiedMatching -omim.ps:203655 Alopecia, isolated skos:exactMatch MONDO:0000005 semapv:UnspecifiedMatching -omim.ps:204000 Leber congenital amaurosis skos:exactMatch MONDO:0018998 semapv:UnspecifiedMatching -omim.ps:206100 Anemia, hypochromic microcytic, with iron overload skos:exactMatch MONDO:0000104 semapv:UnspecifiedMatching -omim.ps:206500 Anencephaly skos:exactMatch MONDO:0000819 semapv:UnspecifiedMatching -omim.ps:208000 Generalized arterial calcification of infancy skos:exactMatch MONDO:0018870 semapv:UnspecifiedMatching -omim.ps:208085 Arthrogryposis, renal dysfunction, and cholestasis skos:exactMatch MONDO:0017123 semapv:UnspecifiedMatching -omim.ps:208150 Fetal akinesia deformation sequence skos:exactMatch MONDO:0008824 semapv:UnspecifiedMatching -omim.ps:208500 Short-rib thoracic dysplasia skos:exactMatch MONDO:0018770 semapv:UnspecifiedMatching -omim.ps:208540 Renal-hepatic-pancreatic dysplasia skos:exactMatch MONDO:0017417 semapv:UnspecifiedMatching -omim.ps:209850 Autism, susceptiblity to skos:exactMatch MONDO:0020836 semapv:UnspecifiedMatching -omim.ps:209880 Central hypoventilation syndrome, congenital skos:exactMatch MONDO:0800031 semapv:UnspecifiedMatching -omim.ps:209900 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 semapv:UnspecifiedMatching -omim.ps:209920 MHC class II deficiency skos:exactMatch MONDO:0008855 semapv:UnspecifiedMatching -omim.ps:210200 Methylcrotonylglycinuria skos:exactMatch MONDO:0018950 semapv:UnspecifiedMatching -omim.ps:210250 Sitosterolemia skos:exactMatch MONDO:0008863 semapv:UnspecifiedMatching -omim.ps:210600 Seckel syndrome skos:exactMatch MONDO:0019342 semapv:UnspecifiedMatching -omim.ps:210900 Microcephaly, growth restriction and increased sister chromatid exchange skos:exactMatch MONDO:0020629 semapv:UnspecifiedMatching -omim.ps:211400 Bronchiectasis skos:exactMatch MONDO:0004822 semapv:UnspecifiedMatching -omim.ps:211530 Brown-Vialetto-Van Laere syndrome skos:exactMatch MONDO:0008891 semapv:UnspecifiedMatching -omim.ps:211600 Cholestasis, progressive familial intrahepatic skos:exactMatch MONDO:0015762 semapv:UnspecifiedMatching -omim.ps:212065 Congenital disorders of glycosylation, type I skos:exactMatch MONDO:0005500 semapv:UnspecifiedMatching -omim.ps:212066 Congenital disorders of glycosylation, type II skos:exactMatch MONDO:0005501 semapv:UnspecifiedMatching -omim.ps:212093 Cardiac Valvular Defect skos:exactMatch MONDO:0031323 semapv:UnspecifiedMatching -omim.ps:212720 Martsolf syndrome skos:exactMatch MONDO:0023910 semapv:UnspecifiedMatching -omim.ps:212750 Celiac disease skos:exactMatch MONDO:0005130 semapv:UnspecifiedMatching -omim.ps:213200 Spinocerebellar ataxia, autosomal recessive skos:exactMatch MONDO:0015244 semapv:UnspecifiedMatching -omim.ps:213300 Joubert syndrome skos:exactMatch MONDO:0018772 semapv:UnspecifiedMatching -omim.ps:213600 Basal ganglia calcification, idiopathic skos:exactMatch MONDO:0008947 semapv:UnspecifiedMatching -omim.ps:213980 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome skos:exactMatch MONDO:0031329 semapv:UnspecifiedMatching -omim.ps:214100 Peroxisome biogenesis disorder skos:exactMatch MONDO:0019234 semapv:UnspecifiedMatching -omim.ps:214150 Cerebrooculofacioskeletal syndrome skos:exactMatch MONDO:0008926 semapv:UnspecifiedMatching -omim.ps:214450 Griscelli syndrome skos:exactMatch MONDO:0018306 semapv:UnspecifiedMatching -omim.ps:214700 Diarrhea, congenital skos:exactMatch MONDO:0000824 semapv:UnspecifiedMatching -omim.ps:215100 Rhizomelic chondrodysplasia punctata skos:exactMatch MONDO:0015776 semapv:UnspecifiedMatching -omim.ps:215500 Choroidal dystrophy, central areolar skos:exactMatch MONDO:0008982 semapv:UnspecifiedMatching -omim.ps:215700 Citrullinemia skos:exactMatch MONDO:0015991 semapv:UnspecifiedMatching -omim.ps:218330 Cranioectodermal dysplasia skos:exactMatch MONDO:0009032 semapv:UnspecifiedMatching -omim.ps:219000 Fraser syndrome skos:exactMatch MONDO:0009046 semapv:UnspecifiedMatching -omim.ps:220110 Mitochondrial complex IV deficiency, nuclear-type skos:exactMatch MONDO:0033885 semapv:UnspecifiedMatching -omim.ps:220150 Hypouricemia, renal skos:exactMatch MONDO:0968951 semapv:UnspecifiedMatching -omim.ps:220210 Ritscher-Schinzel syndrome skos:exactMatch MONDO:0019078 semapv:UnspecifiedMatching -omim.ps:220290 Deafness, autosomal recessive skos:exactMatch MONDO:0019588 semapv:UnspecifiedMatching -omim.ps:220400 Jervell and Lange-Nielsen syndrome skos:exactMatch MONDO:0002441 semapv:UnspecifiedMatching -omim.ps:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch MONDO:0009092 semapv:UnspecifiedMatching -omim.ps:221820 Leukoencephalopathy, hereditary diffuse, with spheroids skos:exactMatch MONDO:0030796 semapv:UnspecifiedMatching -omim.ps:221900 Persistent hyperplastic primary vitreous skos:exactMatch MONDO:0019631 semapv:UnspecifiedMatching -omim.ps:222470 Trichohepatoenteric syndrome skos:exactMatch MONDO:0009105 semapv:UnspecifiedMatching -omim.ps:223360 Orthostatic hypotension skos:exactMatch MONDO:0021272 semapv:UnspecifiedMatching -omim.ps:224050 Cerebellar ataxia, mental retardation, and dysequilibrium skos:exactMatch MONDO:0009133 semapv:UnspecifiedMatching -omim.ps:224120 Anemia, congenital dyserythropoietic skos:exactMatch MONDO:0019403 semapv:UnspecifiedMatching -omim.ps:224690 Meier-Gorlin syndrome skos:exactMatch MONDO:0016817 semapv:UnspecifiedMatching -omim.ps:225750 Aicardi-Goutieres syndrome skos:exactMatch MONDO:0018866 semapv:UnspecifiedMatching -omim.ps:226400 Epidermodysplasia verruciformis, susceptibility to skos:exactMatch MONDO:0100043 semapv:UnspecifiedMatching -omim.ps:226650 Epidermolysis bullosa, junctional skos:exactMatch MONDO:0017612 semapv:UnspecifiedMatching -omim.ps:227220 Skin/hair/eye pigmentation, variation in skos:exactMatch MONDO:0033196 semapv:UnspecifiedMatching -omim.ps:227650 Fanconi anemia skos:exactMatch MONDO:0019391 semapv:UnspecifiedMatching -omim.ps:228520 Fibrochondrogenesis skos:exactMatch MONDO:0016068 semapv:UnspecifiedMatching -omim.ps:228550 Infantile myofibromatosis skos:exactMatch MONDO:0016824 semapv:UnspecifiedMatching -omim.ps:229200 Brittle cornea syndrome skos:exactMatch MONDO:0009242 semapv:UnspecifiedMatching -omim.ps:230400 Galactosemia skos:exactMatch MONDO:0018116 semapv:UnspecifiedMatching -omim.ps:231050 Geleophysic dysplasia skos:exactMatch MONDO:0000127 semapv:UnspecifiedMatching -omim.ps:231090 Hydatidiform mole, recurrent skos:exactMatch MONDO:0006248 semapv:UnspecifiedMatching -omim.ps:231200 Bleeding disorder, platelet-type skos:exactMatch MONDO:0000009 semapv:UnspecifiedMatching -omim.ps:232200 Glycogen storage disease skos:exactMatch MONDO:0002412 semapv:UnspecifiedMatching -omim.ps:233300 Ovarian dysgenesis skos:exactMatch MONDO:0009299 semapv:UnspecifiedMatching -omim.ps:233400 Perrault syndrome skos:exactMatch MONDO:0017312 semapv:UnspecifiedMatching -omim.ps:234200 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 semapv:UnspecifiedMatching -omim.ps:235200 Hemochromatosis skos:exactMatch MONDO:0006507 semapv:UnspecifiedMatching -omim.ps:235400 Hemolytic uremic syndrome skos:exactMatch MONDO:0957097 semapv:UnspecifiedMatching -omim.ps:235510 Hennekam lymphangiectasia-lymphedema syndrome skos:exactMatch MONDO:0016256 semapv:UnspecifiedMatching -omim.ps:236100 Holoprosencephaly skos:exactMatch MONDO:0016296 semapv:UnspecifiedMatching -omim.ps:236600 Hydrocephalus, congenital skos:exactMatch MONDO:0016349 semapv:UnspecifiedMatching -omim.ps:236670 Muscular dystrophy-dystroglycanopathy, type A skos:exactMatch MONDO:0000171 semapv:UnspecifiedMatching -omim.ps:236680 Hydrolethalus syndrome skos:exactMatch MONDO:0006037 semapv:UnspecifiedMatching -omim.ps:236730 Urofacial syndrome skos:exactMatch MONDO:0000463 semapv:UnspecifiedMatching -omim.ps:237450 Hyperbilirubinemia skos:exactMatch MONDO:0002408 semapv:UnspecifiedMatching -omim.ps:239300 Hyperphosphatasia with mental retardation syndrome skos:exactMatch MONDO:0016596 semapv:UnspecifiedMatching -omim.ps:241550 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 semapv:UnspecifiedMatching -omim.ps:242300 Ichthyosis, congenital, autosomal recessive skos:exactMatch MONDO:0017265 semapv:UnspecifiedMatching -omim.ps:242860 Immunodeficiency-centromeric instability-facial anomalies skos:exactMatch MONDO:0000133 semapv:UnspecifiedMatching -omim.ps:243150 Gastrointestinal defect and immunodeficiency syndrome skos:exactMatch MONDO:0030831 semapv:UnspecifiedMatching -omim.ps:243180 Visceral neuropathy, familial skos:exactMatch MONDO:0023961 semapv:UnspecifiedMatching -omim.ps:243300 Cholestasis, benign recurrent intrahepatic skos:exactMatch MONDO:0019008 semapv:UnspecifiedMatching -omim.ps:243310 Baraitser-Winter syndrome skos:exactMatch MONDO:0017579 semapv:UnspecifiedMatching -omim.ps:244400 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 semapv:UnspecifiedMatching -omim.ps:245480 Specific granule deficiency skos:exactMatch MONDO:0009506 semapv:UnspecifiedMatching -omim.ps:245590 Growth hormone insensitivity syndrome with immune dysregulation skos:exactMatch MONDO:0100210 semapv:UnspecifiedMatching -omim.ps:248370 Mandibuloacral dysplasia with lipodystrophy skos:exactMatch MONDO:0016584 semapv:UnspecifiedMatching -omim.ps:248600 Maple syrup urine disease skos:exactMatch MONDO:0009563 semapv:UnspecifiedMatching -omim.ps:249000 Meckel syndrome skos:exactMatch MONDO:0018921 semapv:UnspecifiedMatching -omim.ps:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0025986 semapv:UnspecifiedMatching -omim.ps:249270 Thiamine-responsive dysfunction syndrome skos:exactMatch MONDO:0000152 semapv:UnspecifiedMatching -omim.ps:249500 Intellectual developmental disorder, autosomal recessive skos:exactMatch MONDO:0019502 semapv:UnspecifiedMatching -omim.ps:250950 3-Methylglutaconic aciduria skos:exactMatch MONDO:0017359 semapv:UnspecifiedMatching -omim.ps:251200 Microcephaly, primary skos:exactMatch MONDO:0016660 semapv:UnspecifiedMatching -omim.ps:251270 Microcephaly and chorioretinopathy skos:exactMatch MONDO:0000181 semapv:UnspecifiedMatching -omim.ps:251280 Diencephalic-mesencephalic junction dysplasia syndrome skos:exactMatch MONDO:0017868 semapv:UnspecifiedMatching -omim.ps:251290 Pseudo-TORCH syndrome skos:exactMatch MONDO:0009626 semapv:UnspecifiedMatching -omim.ps:251300 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 semapv:UnspecifiedMatching -omim.ps:251450 Desbuquois dysplasia skos:exactMatch MONDO:0015426 semapv:UnspecifiedMatching -omim.ps:251600 Microphthalmia, isolated skos:exactMatch MONDO:0000062 semapv:UnspecifiedMatching -omim.ps:252010 Mitochondrial complex I deficiency, nuclear type skos:exactMatch MONDO:0100223 semapv:UnspecifiedMatching -omim.ps:252011 Mitochondrial complex II deficiency, nuclear type skos:exactMatch MONDO:0031230 semapv:UnspecifiedMatching -omim.ps:252150 Molybdenum cofactor deficiency skos:exactMatch MONDO:0020480 semapv:UnspecifiedMatching -omim.ps:252270 Monosomy 7 myelodysplasia and leukemia syndrome skos:exactMatch MONDO:0044645 semapv:UnspecifiedMatching -omim.ps:252350 Moyamoya disease skos:exactMatch MONDO:0016820 semapv:UnspecifiedMatching -omim.ps:253310 Lethal congenital contracture syndrome skos:exactMatch MONDO:0017436 semapv:UnspecifiedMatching -omim.ps:253600 Muscular dystrophy, limb-girdle, autosomal recessive skos:exactMatch MONDO:0015152 semapv:UnspecifiedMatching -omim.ps:254090 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 semapv:UnspecifiedMatching -omim.ps:254130 Miyoshi muscular dystrophy skos:exactMatch MONDO:0009685 semapv:UnspecifiedMatching -omim.ps:254770 Epilepsy, myoclonic juvenile skos:exactMatch MONDO:0009696 semapv:UnspecifiedMatching -omim.ps:254780 Myoclonic epilepsy of Lafora skos:exactMatch MONDO:0009697 semapv:UnspecifiedMatching -omim.ps:254800 Epilepsy, progressive myoclonic skos:exactMatch MONDO:0020074 semapv:UnspecifiedMatching -omim.ps:254940 Carey-Fineman-Ziter syndrome skos:exactMatch MONDO:0031415 semapv:UnspecifiedMatching -omim.ps:256040 Proteosome-associated autoinflammatory syndrome skos:exactMatch MONDO:0009726 semapv:UnspecifiedMatching -omim.ps:256100 Nephronophthisis skos:exactMatch MONDO:0019005 semapv:UnspecifiedMatching -omim.ps:256300 Nephrotic syndrome skos:exactMatch MONDO:0002350 semapv:UnspecifiedMatching -omim.ps:256450 Hyperinsulinemia hypoglycemia skos:exactMatch MONDO:0005803 semapv:UnspecifiedMatching -omim.ps:256520 Neu-Laxova syndrome skos:exactMatch MONDO:0000179 semapv:UnspecifiedMatching -omim.ps:256550 Mucolipidosis skos:exactMatch MONDO:0031422 semapv:UnspecifiedMatching -omim.ps:256730 Ceroid lipofuscinoses skos:exactMatch MONDO:0016295 semapv:UnspecifiedMatching -omim.ps:256850 Giant axonal neuropathy skos:exactMatch MONDO:0000128 semapv:UnspecifiedMatching -omim.ps:257300 Mosaic variegated aneuploidy syndrome skos:exactMatch MONDO:0000141 semapv:UnspecifiedMatching -omim.ps:257920 3MC syndrome skos:exactMatch MONDO:0017398 semapv:UnspecifiedMatching -omim.ps:258150 Spermatogenic failure skos:exactMatch MONDO:0004983 semapv:UnspecifiedMatching -omim.ps:258315 Omodysplasia skos:exactMatch MONDO:0017136 semapv:UnspecifiedMatching -omim.ps:259100 Hypertropic osteoarthropathy, primary skos:exactMatch MONDO:0016620 semapv:UnspecifiedMatching -omim.ps:259450 Bruck syndrome skos:exactMatch MONDO:0017195 semapv:UnspecifiedMatching -omim.ps:259700 Osteopetrosis, autosomal recessive skos:exactMatch MONDO:0019026 semapv:UnspecifiedMatching -omim.ps:259900 Hyperoxaluria, primary skos:exactMatch MONDO:0002474 semapv:UnspecifiedMatching -omim.ps:260370 Pancreatic agenesis skos:exactMatch MONDO:0009832 semapv:UnspecifiedMatching -omim.ps:260400 Schwachman-Diamond syndrome skos:exactMatch MONDO:0009833 semapv:UnspecifiedMatching -omim.ps:261100 Imerslund-Grasbeck syndrome skos:exactMatch MONDO:0009853 semapv:UnspecifiedMatching -omim.ps:262400 Isolated growth hormone deficiency skos:exactMatch MONDO:0000050 semapv:UnspecifiedMatching -omim.ps:265120 Surfactant metabolism dysfunction, pulmonary skos:exactMatch MONDO:0012580 semapv:UnspecifiedMatching -omim.ps:265450 Pulmonary venoocclusive disease skos:exactMatch MONDO:0009937 semapv:UnspecifiedMatching -omim.ps:266600 Inflammatory bowel disease skos:exactMatch MONDO:0005265 semapv:UnspecifiedMatching -omim.ps:266900 Senior-Loken syndrome skos:exactMatch MONDO:0017842 semapv:UnspecifiedMatching -omim.ps:267700 Hemophagocytic lymphohistiocytosis, familial skos:exactMatch MONDO:0015541 semapv:UnspecifiedMatching -omim.ps:267750 Knobloch syndrome skos:exactMatch MONDO:0800166 semapv:UnspecifiedMatching -omim.ps:268000 Retinitis pigmentosa skos:exactMatch MONDO:0019200 semapv:UnspecifiedMatching -omim.ps:268310 Robinow syndrome skos:exactMatch MONDO:0019978 semapv:UnspecifiedMatching -omim.ps:268400 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 semapv:UnspecifiedMatching -omim.ps:269500 Sclerosteosis skos:exactMatch MONDO:0017838 semapv:UnspecifiedMatching -omim.ps:270300 Peeling skin syndrome skos:exactMatch MONDO:0019347 semapv:UnspecifiedMatching -omim.ps:271640 Spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch MONDO:0019675 semapv:UnspecifiedMatching -omim.ps:271930 Striatonigral degeneration skos:exactMatch MONDO:0003122 semapv:UnspecifiedMatching -omim.ps:272430 Cold-induced sweating syndrome skos:exactMatch MONDO:0015526 semapv:UnspecifiedMatching -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 -omim.ps:276700 Tyrosinemia skos:exactMatch MONDO:0004741 semapv:UnspecifiedMatching -omim.ps:276900 Usher syndrome skos:exactMatch MONDO:0019501 semapv:UnspecifiedMatching -omim.ps:277180 Vas deferens, congenital bilateral aplasia of skos:exactMatch MONDO:0018801 semapv:UnspecifiedMatching -omim.ps:277300 Spondylocostal dysostosis skos:exactMatch MONDO:0000359 semapv:UnspecifiedMatching -omim.ps:277400 Methylmalonic aciduria and homocystinuria skos:exactMatch MONDO:0016826 semapv:UnspecifiedMatching -omim.ps:277450 Vitamin K-dependent clotting factors, combined deficiency of skos:exactMatch MONDO:0015722 semapv:UnspecifiedMatching -omim.ps:277600 Weill-Marchesani syndrome skos:exactMatch MONDO:0018096 semapv:UnspecifiedMatching -omim.ps:278000 Lysosomal acid lipase deficiency skos:exactMatch MONDO:0800449 semapv:UnspecifiedMatching -omim.ps:278300 Xanthinuria skos:exactMatch MONDO:0018106 semapv:UnspecifiedMatching -omim.ps:300009 Dent disease skos:exactMatch MONDO:0015612 semapv:UnspecifiedMatching -omim.ps:300049 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 semapv:UnspecifiedMatching -omim.ps:300291 Ectodermal dysplasia and immune deficiency skos:exactMatch MONDO:0010293 semapv:UnspecifiedMatching -omim.ps:300345 Microphthalmia, isolated, with coloboma skos:exactMatch MONDO:0000170 semapv:UnspecifiedMatching -omim.ps:300352 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 semapv:UnspecifiedMatching -omim.ps:300491 Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features skos:exactMatch MONDO:0859390 semapv:UnspecifiedMatching -omim.ps:300633 Hypospadias skos:exactMatch MONDO:0005345 semapv:UnspecifiedMatching -omim.ps:300751 Anemia, Sideroblastic skos:exactMatch MONDO:0020099 semapv:UnspecifiedMatching -omim.ps:300755 Immunodeficiency (select examples) skos:exactMatch MONDO:0021094 semapv:UnspecifiedMatching -omim.ps:300818 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0100244 semapv:UnspecifiedMatching -omim.ps:301050 Alport syndrome skos:exactMatch MONDO:0018965 semapv:UnspecifiedMatching -omim.ps:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 skos:exactMatch MONDO:0957400 semapv:UnspecifiedMatching -omim.ps:303350 Spastic paraplegia skos:exactMatch MONDO:0019064 semapv:UnspecifiedMatching -omim.ps:304500 Deafness, X-linked skos:exactMatch MONDO:0020768 semapv:UnspecifiedMatching -omim.ps:305100 Ectodermal dysplasia (select examples) skos:exactMatch MONDO:0019287 semapv:UnspecifiedMatching -omim.ps:305450 FG syndrome skos:exactMatch MONDO:0002010 semapv:UnspecifiedMatching -omim.ps:305620 Frontometaphyseal dysplasia skos:exactMatch MONDO:0015942 semapv:UnspecifiedMatching -omim.ps:306400 Granulomatous disease, chronic skos:exactMatch MONDO:0018305 semapv:UnspecifiedMatching -omim.ps:306955 Heterotaxy, visceral skos:exactMatch MONDO:0018677 semapv:UnspecifiedMatching -omim.ps:308205 IFAP syndrome skos:exactMatch MONDO:0100212 semapv:UnspecifiedMatching -omim.ps:308230 Immunodeficiency with hyper-IgM skos:exactMatch MONDO:0003947 semapv:UnspecifiedMatching -omim.ps:308240 Lymphoproliferative syndrome skos:exactMatch MONDO:0016537 semapv:UnspecifiedMatching -omim.ps:308350 Developmental and epileptic encephalopathy skos:exactMatch MONDO:0100062 semapv:UnspecifiedMatching -omim.ps:309510 Intellectual developmental disorder, X-linked syndromic skos:exactMatch MONDO:0020119 semapv:UnspecifiedMatching -omim.ps:309530 Intellectual developmental disorder, nonsyndromic, X-linked skos:exactMatch MONDO:0019181 semapv:UnspecifiedMatching -omim.ps:309800 Microphthalmia, syndromic skos:exactMatch MONDO:0016073 semapv:UnspecifiedMatching -omim.ps:309801 Linear skin defects with multiple congenital anomalies skos:exactMatch MONDO:0010672 semapv:UnspecifiedMatching -omim.ps:310300 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 semapv:UnspecifiedMatching -omim.ps:310500 Night blindness, congenital stationary skos:exactMatch MONDO:0016293 semapv:UnspecifiedMatching -omim.ps:310700 Nystagmus, congenital skos:exactMatch MONDO:0005712 semapv:UnspecifiedMatching -omim.ps:311200 Orofaciodigital syndrome skos:exactMatch MONDO:0015375 semapv:UnspecifiedMatching -omim.ps:311360 Premature ovarian failure skos:exactMatch MONDO:0019852 semapv:UnspecifiedMatching -omim.ps:312080 Leukodystrophy, hypomyelinating skos:exactMatch MONDO:0019046 semapv:UnspecifiedMatching -omim.ps:312170 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 semapv:UnspecifiedMatching -omim.ps:313900 Thrombocytopenia skos:exactMatch MONDO:0100241 semapv:UnspecifiedMatching -omim.ps:314580 Wieacker-Wolff syndrome skos:exactMatch MONDO:0025445 semapv:UnspecifiedMatching -omim.ps:400043 Deafness, Y-linked skos:exactMatch MONDO:0033304 semapv:UnspecifiedMatching -omim.ps:400044 46,XY sex reversal skos:exactMatch MONDO:0010765 semapv:UnspecifiedMatching -omim.ps:600118 Warburg micro syndrome skos:exactMatch MONDO:0016649 semapv:UnspecifiedMatching -omim.ps:600131 Epilepsy, childhood absence skos:exactMatch MONDO:0010826 semapv:UnspecifiedMatching -omim.ps:600165 Nanophthalmos skos:exactMatch MONDO:0005514 semapv:UnspecifiedMatching -omim.ps:600462 Myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch MONDO:0000863 semapv:UnspecifiedMatching -omim.ps:600512 Epilepsy, familial temporal lobe skos:exactMatch MONDO:0005115 semapv:UnspecifiedMatching -omim.ps:600513 Epilepsy, nocturnal frontal lobe skos:exactMatch MONDO:0000030 semapv:UnspecifiedMatching -omim.ps:600630 UV-sensitive syndrome skos:exactMatch MONDO:0015797 semapv:UnspecifiedMatching -omim.ps:600669 Epilepsy, idiopathic generalized skos:exactMatch MONDO:0005579 semapv:UnspecifiedMatching -omim.ps:600721 D-2-hydroxyglutaric aciduria skos:exactMatch MONDO:0010924 semapv:UnspecifiedMatching -omim.ps:600803 Gallbladder disease skos:exactMatch MONDO:0700225 semapv:UnspecifiedMatching -omim.ps:601068 Epilepsy, familial adult myoclonic skos:exactMatch MONDO:0000160 semapv:UnspecifiedMatching -omim.ps:601104 Supranuclear palsy, progressive skos:exactMatch MONDO:0019037 semapv:UnspecifiedMatching -omim.ps:601144 Brugada syndrome skos:exactMatch MONDO:0015263 semapv:UnspecifiedMatching -omim.ps:601198 Hypocalcemia skos:exactMatch MONDO:0018543 semapv:UnspecifiedMatching -omim.ps:601228 Polyposis syndrome, hereditary mixed skos:exactMatch MONDO:0011023 semapv:UnspecifiedMatching -omim.ps:601390 Van Maldergem syndrome skos:exactMatch MONDO:0017813 semapv:UnspecifiedMatching -omim.ps:601419 Myopathy, myofibrillar skos:exactMatch MONDO:0018943 semapv:UnspecifiedMatching -omim.ps:601457 Severe combined immunodeficiency (select examples) skos:exactMatch MONDO:0031520 semapv:UnspecifiedMatching -omim.ps:601462 Myasthenic syndrome, congenital skos:exactMatch MONDO:0018940 semapv:UnspecifiedMatching -omim.ps:601471 Facial paresis, hereditary congenital skos:exactMatch MONDO:0011090 semapv:UnspecifiedMatching -omim.ps:601495 Agammaglobulinemia skos:exactMatch MONDO:0015977 semapv:UnspecifiedMatching -omim.ps:601559 Stuve-Wiedemann syndrome skos:exactMatch MONDO:0031280 semapv:UnspecifiedMatching -omim.ps:601675 Trichothiodystrophy skos:exactMatch MONDO:0018053 semapv:UnspecifiedMatching -omim.ps:601678 Bartter syndrome skos:exactMatch MONDO:0015231 semapv:UnspecifiedMatching -omim.ps:601764 Seizures, benign familial infantile skos:exactMatch MONDO:0017615 semapv:UnspecifiedMatching -omim.ps:602014 Hypomagnesemia skos:exactMatch MONDO:0018100 semapv:UnspecifiedMatching -omim.ps:602483 Auriculocondylar syndrome skos:exactMatch MONDO:0000107 semapv:UnspecifiedMatching -omim.ps:602588 Branchiootic syndrome skos:exactMatch MONDO:0018878 semapv:UnspecifiedMatching -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: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 -omim.ps:603896 Leukoencephalopathy with vanishing white matter skos:exactMatch MONDO:0800448 semapv:UnspecifiedMatching -omim.ps:603933 Microvascular complications of diabetes skos:exactMatch MONDO:0000065 semapv:UnspecifiedMatching -omim.ps:604004 Leukoencephalopathy, megalencephalic skos:exactMatch MONDO:0000137 semapv:UnspecifiedMatching -omim.ps:604169 Left ventricular noncompaction skos:exactMatch MONDO:0018901 semapv:UnspecifiedMatching -omim.ps:604233 Epilepsy, generalized, with febrile seizures plus skos:exactMatch MONDO:0018214 semapv:UnspecifiedMatching -omim.ps:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type skos:exactMatch MONDO:0014471 semapv:UnspecifiedMatching -omim.ps:604320 Neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch MONDO:0015363 semapv:UnspecifiedMatching -omim.ps:604348 Advanced sleep phase syndrome skos:exactMatch MONDO:0015609 semapv:UnspecifiedMatching -omim.ps:604364 Epilepsy, familial focal, with variable foci skos:exactMatch MONDO:0020310 semapv:UnspecifiedMatching -omim.ps:604370 Breast-ovarian cancer, familial, susceptibility to skos:exactMatch MONDO:0100526 semapv:UnspecifiedMatching -omim.ps:604391 Ataxia-telangiectasia-like disorder skos:exactMatch MONDO:0011457 semapv:UnspecifiedMatching -omim.ps:604498 Amegakaryocytic thrombocytopenia, congenital skos:exactMatch MONDO:0800451 semapv:UnspecifiedMatching -omim.ps:604571 MHC class I deficiency skos:exactMatch MONDO:0011476 semapv:UnspecifiedMatching -omim.ps:604772 Ventricular tachycardia, catecholaminergic polymorphic skos:exactMatch MONDO:0017990 semapv:UnspecifiedMatching -omim.ps:604931 Cortisone reductase deficiency skos:exactMatch MONDO:0000193 semapv:UnspecifiedMatching -omim.ps:605253 Neuropathy, congenital hypomelinating skos:exactMatch MONDO:0033352 semapv:UnspecifiedMatching -omim.ps:605389 Hypotrichosis skos:exactMatch MONDO:0003037 semapv:UnspecifiedMatching -omim.ps:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011555 semapv:UnspecifiedMatching -omim.ps:605552 Abdominal obesity-metabolic syndrome skos:exactMatch MONDO:0000816 semapv:UnspecifiedMatching -omim.ps:605711 Multiple mitochondrial dysfunctions syndrome skos:exactMatch MONDO:0017338 semapv:UnspecifiedMatching -omim.ps:605899 Glycine encephalopathy skos:exactMatch MONDO:0011612 semapv:UnspecifiedMatching -omim.ps:606176 Diabetes mellitus, permanent neonatal skos:exactMatch MONDO:0100164 semapv:UnspecifiedMatching -omim.ps:606215 Atrioventricular septal defect skos:exactMatch MONDO:0020290 semapv:UnspecifiedMatching -omim.ps:606703 Dyskinesia with orofacial involvement skos:exactMatch MONDO:0031115 semapv:UnspecifiedMatching -omim.ps:606711 Specific language impairment skos:exactMatch MONDO:0000724 semapv:UnspecifiedMatching -omim.ps:606777 Glut1 deficiency syndrome skos:exactMatch MONDO:0000188 semapv:UnspecifiedMatching -omim.ps:607014 Mucopolysaccharidoses skos:exactMatch MONDO:0019249 semapv:UnspecifiedMatching -omim.ps:607086 Aortic aneurysm, familial thoracic skos:exactMatch MONDO:0019625 semapv:UnspecifiedMatching -omim.ps:607095 Anauxetic dysplasia skos:exactMatch MONDO:0011773 semapv:UnspecifiedMatching -omim.ps:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy skos:exactMatch MONDO:0020771 semapv:UnspecifiedMatching -omim.ps:607313 Gaze palsy, familial horizontal, with progressive scoliosis skos:exactMatch MONDO:0011810 semapv:UnspecifiedMatching -omim.ps:607326 Smith-McCort dysplasia skos:exactMatch MONDO:0015799 semapv:UnspecifiedMatching -omim.ps:607411 Patent ductus arteriosus skos:exactMatch MONDO:0011827 semapv:UnspecifiedMatching -omim.ps:607426 Coenzyme Q10 deficiency, primary skos:exactMatch MONDO:0018151 semapv:UnspecifiedMatching -omim.ps:607432 Lissencephaly skos:exactMatch MONDO:0018838 semapv:UnspecifiedMatching -omim.ps:607594 Immunodeficiency, common variable skos:exactMatch MONDO:0015517 semapv:UnspecifiedMatching -omim.ps:607596 Pontocerebellar hypoplasia skos:exactMatch MONDO:0020135 semapv:UnspecifiedMatching -omim.ps:607602 Ichthyosis, annular epidermolytic skos:exactMatch MONDO:0011870 semapv:UnspecifiedMatching -omim.ps:607631 Epilepsy, juvenile absence skos:exactMatch MONDO:1030001 semapv:UnspecifiedMatching -omim.ps:607634 Osteopetrosis, autosomal dominant skos:exactMatch MONDO:0020645 semapv:UnspecifiedMatching -omim.ps:607721 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch MONDO:0011899 semapv:UnspecifiedMatching -omim.ps:607748 Hypercholanemia, familial skos:exactMatch MONDO:0100327 semapv:UnspecifiedMatching -omim.ps:607765 Bile acid synthesis defect, congenital skos:exactMatch MONDO:0018841 semapv:UnspecifiedMatching -omim.ps:608207 Kala-azar, susceptibility to skos:exactMatch MONDO:0005445 semapv:UnspecifiedMatching -omim.ps:608354 Capillary malformation-arteriovenous malformation skos:exactMatch MONDO:0012016 semapv:UnspecifiedMatching -omim.ps:608415 Prolonged electroretinal response suppression skos:exactMatch MONDO:0012033 semapv:UnspecifiedMatching -omim.ps:608567 Sick sinus syndrome skos:exactMatch MONDO:0012061 semapv:UnspecifiedMatching -omim.ps:608583 Atrial fibrillation, familial skos:exactMatch MONDO:0018054 semapv:UnspecifiedMatching -omim.ps:608594 Lipodystrophy, congenital generalized skos:exactMatch MONDO:0006536 semapv:UnspecifiedMatching -omim.ps:608638 Asperger syndrome, susceptibility to skos:exactMatch MONDO:0100440 semapv:UnspecifiedMatching -omim.ps:608805 Avascular necrosis of femoral head, primary skos:exactMatch MONDO:0012126 semapv:UnspecifiedMatching -omim.ps:609015 Mitochondrial trifunctional protein deficiency skos:exactMatch MONDO:0012172 semapv:UnspecifiedMatching -omim.ps:609060 Combined oxidative phosphorylation deficiency skos:exactMatch MONDO:0000732 semapv:UnspecifiedMatching -omim.ps:609129 Auditory neuropathy skos:exactMatch MONDO:0021944 semapv:UnspecifiedMatching -omim.ps:609161 Striatal degeneration, autosomal dominant skos:exactMatch MONDO:0000211 semapv:UnspecifiedMatching -omim.ps:609192 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 semapv:UnspecifiedMatching -omim.ps:609308 Muscular dystrophy-dystroglycanopathy, type C skos:exactMatch MONDO:0000173 semapv:UnspecifiedMatching -omim.ps:609322 Rhabdoid tumor predisposition syndrome skos:exactMatch MONDO:0016473 semapv:UnspecifiedMatching -omim.ps:609620 Short QT syndrome skos:exactMatch MONDO:0000453 semapv:UnspecifiedMatching -omim.ps:609628 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 semapv:UnspecifiedMatching -omim.ps:609698 Thyroid hormone metabolism, abnormal skos:exactMatch MONDO:0031432 semapv:UnspecifiedMatching -omim.ps:610253 Kleefstra syndrome skos:exactMatch MONDO:0012455 semapv:UnspecifiedMatching -omim.ps:610448 Chilblain lupus skos:exactMatch MONDO:0018827 semapv:UnspecifiedMatching -omim.ps:610460 Thiopurines, poor metabolism of skos:exactMatch MONDO:0000210 semapv:UnspecifiedMatching -omim.ps:610489 Pigmented nodular adrenocortical disease, primary skos:exactMatch MONDO:0015999 semapv:UnspecifiedMatching -omim.ps:610542 Myasthenic syndrome, congenital, with tubular aggregates skos:exactMatch MONDO:0000182 semapv:UnspecifiedMatching -omim.ps:610551 Encephalopathy/encephalitis, acute, infection-induced skos:exactMatch MONDO:0000166 semapv:UnspecifiedMatching -omim.ps:610799 skos:exactMatch MONDO:0000049 semapv:UnspecifiedMatching -omim.ps:610805 Congenital anomalies of kidney and urinary tract skos:exactMatch MONDO:0019719 semapv:UnspecifiedMatching -omim.ps:612199 Cerebroretinal microangiopathy with calcfications and cysts skos:exactMatch MONDO:0012815 semapv:UnspecifiedMatching -omim.ps:612286 Nephrolithiasis/osteoporosis, hypophosphatemic skos:exactMatch MONDO:0000079 semapv:UnspecifiedMatching -omim.ps:612900 Spastic quadriplegic cerebral palsy skos:exactMatch MONDO:0016215 semapv:UnspecifiedMatching -omim.ps:612975 Short sleep, familial natural skos:exactMatch MONDO:0044278 semapv:UnspecifiedMatching -omim.ps:613038 Pituitary hormone deficiency, combined skos:exactMatch MONDO:0013099 semapv:UnspecifiedMatching -omim.ps:613112 Macrothrombocytopenia, isolated skos:exactMatch MONDO:0031447 semapv:UnspecifiedMatching -omim.ps:613135 Parkinsonism-dystonia, infantile skos:exactMatch MONDO:0013150 semapv:UnspecifiedMatching -omim.ps:613155 Muscular dystrophy-dystroglycanopathy, type B skos:exactMatch MONDO:0000172 semapv:UnspecifiedMatching -omim.ps:613280 Hypermanganesemia with dystonia skos:exactMatch MONDO:0000214 semapv:UnspecifiedMatching -omim.ps:613339 Hot water epilepsy skos:exactMatch MONDO:0013229 semapv:UnspecifiedMatching -omim.ps:613573 Ectodermal dysplasia-syndactyly syndrome skos:exactMatch MONDO:0013311 semapv:UnspecifiedMatching -omim.ps:613652 C1q deficiency skos:exactMatch MONDO:0013343 semapv:UnspecifiedMatching -omim.ps:613658 Rajab interstitial lung disease with brain calcifications skos:exactMatch MONDO:0100214 semapv:UnspecifiedMatching -omim.ps:614039 Cortical dysplasia, complex, with other brain malformations skos:exactMatch MONDO:0000904 semapv:UnspecifiedMatching -omim.ps:614080 Multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch MONDO:0100247 semapv:UnspecifiedMatching -omim.ps:614231 Microcephaly, epilepsy, and diabetes syndrome skos:exactMatch MONDO:0100328 semapv:UnspecifiedMatching -omim.ps:614328 skos:exactMatch MONDO:0017411 semapv:UnspecifiedMatching -omim.ps:614372 Lectin complement activation pathway defects skos:exactMatch MONDO:0044209 semapv:UnspecifiedMatching -omim.ps:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission skos:exactMatch MONDO:0054865 semapv:UnspecifiedMatching -omim.ps:614429 Ventricular septal defect skos:exactMatch MONDO:0002070 semapv:UnspecifiedMatching -omim.ps:614592 Bent bone dysplasia syndrome skos:exactMatch MONDO:0031615 semapv:UnspecifiedMatching -omim.ps:614594 Olmsted syndrome skos:exactMatch MONDO:0031421 semapv:UnspecifiedMatching -omim.ps:614675 Bone marrow failure syndrome skos:exactMatch MONDO:0000159 semapv:UnspecifiedMatching -omim.ps:614742 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related skos:exactMatch MONDO:0000148 semapv:UnspecifiedMatching -omim.ps:614937 Myoclonus, familial skos:exactMatch MONDO:0013981 semapv:UnspecifiedMatching -omim.ps:615040 Familial episodic pain syndrome skos:exactMatch MONDO:0018319 semapv:UnspecifiedMatching -omim.ps:615273 Congenital disorder of deglycosylation skos:exactMatch MONDO:0031376 semapv:UnspecifiedMatching -omim.ps:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch MONDO:0014176 semapv:UnspecifiedMatching -omim.ps:615438 Infantile liver failure syndrome skos:exactMatch MONDO:0000023 semapv:UnspecifiedMatching -omim.ps:615774 Oocyte/zygote/embryo maturation arrest skos:exactMatch MONDO:0014769 semapv:UnspecifiedMatching -omim.ps:615895 Polyglucosan body myopathy skos:exactMatch MONDO:0000192 semapv:UnspecifiedMatching -omim.ps:615952 Autoimmune disease, multisystem, infantile-onset skos:exactMatch MONDO:0000213 semapv:UnspecifiedMatching -omim.ps:616033 Microcephaly, short stature, and impaired glucose metabolism skos:exactMatch MONDO:0800450 semapv:UnspecifiedMatching -omim.ps:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset skos:exactMatch MONDO:0024189 semapv:UnspecifiedMatching -omim.ps:616355 Houge-Janssens syndrome skos:exactMatch MONDO:0957553 semapv:UnspecifiedMatching -omim.ps:616418 Hypomagnesemia, seizures, and mental retardation skos:exactMatch MONDO:0014631 semapv:UnspecifiedMatching -omim.ps:616744 Autoinflammatory syndrome, familial, Behcet-like skos:exactMatch MONDO:0031384 semapv:UnspecifiedMatching -omim.ps:616814 skos:exactMatch MONDO:0000218 semapv:UnspecifiedMatching -omim.ps:616866 Spinal muscular atrophy with congenital bone fractures skos:exactMatch MONDO:0000209 semapv:UnspecifiedMatching -omim.ps:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch MONDO:0031632 semapv:UnspecifiedMatching -omim.ps:617068 Portal hypertension, noncirrhotic skos:exactMatch MONDO:0024193 semapv:UnspecifiedMatching -omim.ps:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy skos:exactMatch MONDO:0014960 semapv:UnspecifiedMatching -omim.ps:617236 Cone-rod dystrophy and hearing loss skos:exactMatch MONDO:0014980 semapv:UnspecifiedMatching -omim.ps:617290 Epilepsy, early-onset skos:exactMatch MONDO:0957599 semapv:UnspecifiedMatching -omim.ps:617468 Arthrogryposis multiplex congenita skos:exactMatch MONDO:0015168 semapv:UnspecifiedMatching -omim.ps:617660 Vertebral, cardiac, renal, and limb defects syndrome skos:exactMatch MONDO:0020831 semapv:UnspecifiedMatching -omim.ps:617711 skos:exactMatch MONDO:0020627 semapv:UnspecifiedMatching -omim.ps:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies skos:exactMatch MONDO:0031439 semapv:UnspecifiedMatching -omim.ps:618005 Congenital disorder of glycosylation with defective fucosylation skos:exactMatch MONDO:0060720 semapv:UnspecifiedMatching -omim.ps:618332 Menke-Hennekam syndrome skos:exactMatch MONDO:0020774 semapv:UnspecifiedMatching -omim.ps:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome skos:exactMatch MONDO:0016470 semapv:UnspecifiedMatching -omim.ps:619142 Cardioacrofacial dysplasia skos:exactMatch MONDO:0031386 semapv:UnspecifiedMatching -omim.ps:619382 Leber hereditary optic neuropathy, autosomal recessive skos:exactMatch MONDO:0030309 semapv:UnspecifiedMatching -omim.ps:619539 Neuroocular syndrome skos:exactMatch MONDO:0859193 semapv:UnspecifiedMatching -omim.ps:619611 Interstitial lung disease skos:exactMatch MONDO:0031199 semapv:UnspecifiedMatching -omim.ps:619720 Bryant-Li-Bhoj neurodevelopmental syndrome skos:exactMatch MONDO:0031200 semapv:UnspecifiedMatching -omim.ps:619758 Tessadori-Van-Haaften neurodevelopmental syndrome skos:exactMatch MONDO:0031400 semapv:UnspecifiedMatching -omim.ps:619980 Braddock-Carey Syndrome skos:exactMatch MONDO:0031646 semapv:UnspecifiedMatching -omim.ps:620184 Atelis syndrome skos:exactMatch MONDO:0859393 semapv:UnspecifiedMatching +OMIM:620963 ZDHHC18 skos:exactMatch hgnc.symbol:20712 semapv:UnspecifiedMatching +OMIM:620963 ZDHHC18 skos:exactMatch hgnc.symbol:ZDHHC18 semapv:UnspecifiedMatching +OMIM:620963 ZDHHC18 skos:exactMatch ncbigene:84243 semapv:UnspecifiedMatching +OMIM:620965 SVIP skos:exactMatch hgnc.symbol:25238 semapv:UnspecifiedMatching +OMIM:620965 SVIP skos:exactMatch hgnc.symbol:SVIP semapv:UnspecifiedMatching +OMIM:620965 SVIP skos:exactMatch ncbigene:258010 semapv:UnspecifiedMatching +OMIM:620966 TLCD1 skos:exactMatch hgnc.symbol:25177 semapv:UnspecifiedMatching +OMIM:620966 TLCD1 skos:exactMatch hgnc.symbol:TLCD1 semapv:UnspecifiedMatching +OMIM:620966 TLCD1 skos:exactMatch ncbigene:116238 semapv:UnspecifiedMatching +OMIM:620967 TLCD2 skos:exactMatch hgnc.symbol:33522 semapv:UnspecifiedMatching +OMIM:620967 TLCD2 skos:exactMatch hgnc.symbol:TLCD2 semapv:UnspecifiedMatching +OMIM:620967 TLCD2 skos:exactMatch ncbigene:727910 semapv:UnspecifiedMatching +OMIM:620970 ZNF808 skos:exactMatch hgnc.symbol:33230 semapv:UnspecifiedMatching +OMIM:620970 ZNF808 skos:exactMatch hgnc.symbol:ZNF808 semapv:UnspecifiedMatching +OMIM:620970 ZNF808 skos:exactMatch ncbigene:388558 semapv:UnspecifiedMatching +OMIM:620972 ZNF608 skos:exactMatch hgnc.symbol:29238 semapv:UnspecifiedMatching +OMIM:620972 ZNF608 skos:exactMatch hgnc.symbol:ZNF608 semapv:UnspecifiedMatching +OMIM:620972 ZNF608 skos:exactMatch ncbigene:57507 semapv:UnspecifiedMatching +OMIM:620973 SYTL3 skos:exactMatch hgnc.symbol:15587 semapv:UnspecifiedMatching +OMIM:620973 SYTL3 skos:exactMatch hgnc.symbol:SYTL3 semapv:UnspecifiedMatching +OMIM:620973 SYTL3 skos:exactMatch ncbigene:94120 semapv:UnspecifiedMatching +OMIM:620974 ZNF862 skos:exactMatch hgnc.symbol:34519 semapv:UnspecifiedMatching +OMIM:620974 ZNF862 skos:exactMatch hgnc.symbol:ZNF862 semapv:UnspecifiedMatching +OMIM:620974 ZNF862 skos:exactMatch ncbigene:643641 semapv:UnspecifiedMatching +OMIM:620976 ZNF740 skos:exactMatch hgnc.symbol:27465 semapv:UnspecifiedMatching +OMIM:620976 ZNF740 skos:exactMatch hgnc.symbol:ZNF740 semapv:UnspecifiedMatching +OMIM:620976 ZNF740 skos:exactMatch ncbigene:283337 semapv:UnspecifiedMatching +OMIM:620979 TRIML1 skos:exactMatch hgnc.symbol:26698 semapv:UnspecifiedMatching +OMIM:620979 TRIML1 skos:exactMatch hgnc.symbol:TRIML1 semapv:UnspecifiedMatching +OMIM:620979 TRIML1 skos:exactMatch ncbigene:339976 semapv:UnspecifiedMatching +OMIM:620980 ZNF414 skos:exactMatch hgnc.symbol:20630 semapv:UnspecifiedMatching +OMIM:620980 ZNF414 skos:exactMatch hgnc.symbol:ZNF414 semapv:UnspecifiedMatching +OMIM:620980 ZNF414 skos:exactMatch ncbigene:84330 semapv:UnspecifiedMatching +OMIM:620981 ZNF697 skos:exactMatch hgnc.symbol:32034 semapv:UnspecifiedMatching +OMIM:620981 ZNF697 skos:exactMatch hgnc.symbol:ZNF697 semapv:UnspecifiedMatching +OMIM:620981 ZNF697 skos:exactMatch ncbigene:90874 semapv:UnspecifiedMatching +OMIM:620982 ZNF385C skos:exactMatch hgnc.symbol:33722 semapv:UnspecifiedMatching +OMIM:620982 ZNF385C skos:exactMatch hgnc.symbol:ZNF385C semapv:UnspecifiedMatching +OMIM:620982 ZNF385C skos:exactMatch ncbigene:201181 semapv:UnspecifiedMatching +OMIM:620986 TSNARE1 skos:exactMatch hgnc.symbol:26437 semapv:UnspecifiedMatching +OMIM:620986 TSNARE1 skos:exactMatch hgnc.symbol:TSNARE1 semapv:UnspecifiedMatching +OMIM:620986 TSNARE1 skos:exactMatch ncbigene:203062 semapv:UnspecifiedMatching +OMIM:620989 SERPINE3 skos:exactMatch hgnc.symbol:24774 semapv:UnspecifiedMatching +OMIM:620989 SERPINE3 skos:exactMatch hgnc.symbol:SERPINE3 semapv:UnspecifiedMatching +OMIM:620989 SERPINE3 skos:exactMatch ncbigene:647174 semapv:UnspecifiedMatching +OMIM:620992 SLTM skos:exactMatch hgnc.symbol:20709 semapv:UnspecifiedMatching +OMIM:620992 SLTM skos:exactMatch hgnc.symbol:SLTM semapv:UnspecifiedMatching +OMIM:620992 SLTM skos:exactMatch ncbigene:79811 semapv:UnspecifiedMatching +OMIM:620993 CHASERR skos:exactMatch hgnc.symbol:48626 semapv:UnspecifiedMatching +OMIM:620993 CHASERR skos:exactMatch hgnc.symbol:CHASERR semapv:UnspecifiedMatching +OMIM:620993 CHASERR skos:exactMatch ncbigene:100507217 semapv:UnspecifiedMatching +OMIM:620994 RUFY4 skos:exactMatch hgnc.symbol:24804 semapv:UnspecifiedMatching +OMIM:620994 RUFY4 skos:exactMatch hgnc.symbol:RUFY4 semapv:UnspecifiedMatching +OMIM:620994 RUFY4 skos:exactMatch ncbigene:285180 semapv:UnspecifiedMatching +OMIM:620995 SETD4 skos:exactMatch hgnc.symbol:1258 semapv:UnspecifiedMatching +OMIM:620995 SETD4 skos:exactMatch hgnc.symbol:SETD4 semapv:UnspecifiedMatching +OMIM:620995 SETD4 skos:exactMatch ncbigene:54093 semapv:UnspecifiedMatching +OMIM:620997 SEMA3G skos:exactMatch hgnc.symbol:30400 semapv:UnspecifiedMatching +OMIM:620997 SEMA3G skos:exactMatch hgnc.symbol:SEMA3G semapv:UnspecifiedMatching +OMIM:620997 SEMA3G skos:exactMatch ncbigene:56920 semapv:UnspecifiedMatching +OMIM:620998 ZNF230 skos:exactMatch hgnc.symbol:13024 semapv:UnspecifiedMatching +OMIM:620998 ZNF230 skos:exactMatch hgnc.symbol:ZNF230 semapv:UnspecifiedMatching +OMIM:620998 ZNF230 skos:exactMatch ncbigene:7773 semapv:UnspecifiedMatching +OMIM:621000 SNX18 skos:exactMatch hgnc.symbol:19245 semapv:UnspecifiedMatching +OMIM:621000 SNX18 skos:exactMatch hgnc.symbol:SNX18 semapv:UnspecifiedMatching +OMIM:621000 SNX18 skos:exactMatch ncbigene:112574 semapv:UnspecifiedMatching +OMIMPS:100070 Aortic aneurysm, familial abdominal skos:exactMatch MONDO:0007031 semapv:UnspecifiedMatching +OMIMPS:100300 Adams-Oliver syndrome skos:exactMatch MONDO:0007034 semapv:UnspecifiedMatching +OMIMPS:101800 Acrodysostosis skos:exactMatch MONDO:0019797 semapv:UnspecifiedMatching +OMIMPS:102200 Pituitary adenoma skos:exactMatch MONDO:0017824 semapv:UnspecifiedMatching +OMIMPS:102300 Restless legs syndrome skos:exactMatch MONDO:0100170 semapv:UnspecifiedMatching +OMIMPS:103900 Hyperaldosteronism skos:exactMatch MONDO:0016525 semapv:UnspecifiedMatching +OMIMPS:104290 Alternating hemiplegia of childhood skos:exactMatch MONDO:0016241 semapv:UnspecifiedMatching +OMIMPS:104500 Amelogenesis imperfecta skos:exactMatch MONDO:0019507 semapv:UnspecifiedMatching +OMIMPS:105210 Amyloidosis, hereditary systemic skos:exactMatch MONDO:0007100 semapv:UnspecifiedMatching +OMIMPS:105250 Amyloidosis, primary localized cutaneous skos:exactMatch MONDO:0007101 semapv:UnspecifiedMatching +OMIMPS:105400 Amyotrophic lateral sclerosis skos:exactMatch MONDO:0005144 semapv:UnspecifiedMatching +OMIMPS:105550 Frontotemporal dementia and/or amyotrophic lateral sclerosis skos:exactMatch MONDO:0017161 semapv:UnspecifiedMatching +OMIMPS:105650 Diamond-Blackfan anemia skos:exactMatch MONDO:0015253 semapv:UnspecifiedMatching +OMIMPS:105800 Aneurysm, intracranial berry skos:exactMatch MONDO:0016483 semapv:UnspecifiedMatching +OMIMPS:106100 Angioedema, Hereditary skos:exactMatch MONDO:0019623 semapv:UnspecifiedMatching +OMIMPS:106210 Aniridia skos:exactMatch MONDO:0007119 semapv:UnspecifiedMatching +OMIMPS:106300 Spondyloarthropathy, susceptibility to skos:exactMatch MONDO:0024512 semapv:UnspecifiedMatching +OMIMPS:106600 Tooth agenesis, selective skos:exactMatch MONDO:0005486 semapv:UnspecifiedMatching +OMIMPS:107250 Anterior segment dysgenesis skos:exactMatch MONDO:0019503 semapv:UnspecifiedMatching +OMIMPS:107480 Townes-Brocks syndrome skos:exactMatch MONDO:0007142 semapv:UnspecifiedMatching +OMIMPS:107970 Arrhythmogenic right ventricular dysplasia skos:exactMatch MONDO:0016342 semapv:UnspecifiedMatching +OMIMPS:108120 Arthrogryposis, distal skos:exactMatch MONDO:0019942 semapv:UnspecifiedMatching +OMIMPS:108300 Stickler syndrome skos:exactMatch MONDO:0019354 semapv:UnspecifiedMatching +OMIMPS:108600 Spastic ataxia skos:exactMatch MONDO:0017845 semapv:UnspecifiedMatching +OMIMPS:108720 Atelosteogenesis skos:exactMatch MONDO:0000389 semapv:UnspecifiedMatching +OMIMPS:108800 Atrial septal defect skos:exactMatch MONDO:0006664 semapv:UnspecifiedMatching +OMIMPS:109400 Basal cell nevus syndrome skos:exactMatch MONDO:0007187 semapv:UnspecifiedMatching +OMIMPS:109720 Biliary cirrhosis, primary skos:exactMatch MONDO:0005388 semapv:UnspecifiedMatching +OMIMPS:109730 Aortic valve disease skos:exactMatch MONDO:0007194 semapv:UnspecifiedMatching +OMIMPS:112240 Cole-Carpenter syndrome skos:exactMatch MONDO:0016085 semapv:UnspecifiedMatching +OMIMPS:113650 Branchiootorenal syndrome skos:exactMatch MONDO:0007029 semapv:UnspecifiedMatching +OMIMPS:113700 Breasts and/or nipples, aplasia or hypoplasia of skos:exactMatch MONDO:0015855 semapv:UnspecifiedMatching +OMIMPS:113800 Epidermolytic hyperkeratosis skos:exactMatch MONDO:0007239 semapv:UnspecifiedMatching +OMIMPS:113900 Progressive familial heart block skos:exactMatch MONDO:0019490 semapv:UnspecifiedMatching +OMIMPS:114580 Familial candidiasis skos:exactMatch MONDO:0015279 semapv:UnspecifiedMatching +OMIMPS:115150 Cardiofaciocutaneous syndrome skos:exactMatch MONDO:0015280 semapv:UnspecifiedMatching +OMIMPS:115200 Dilated cardiomyopathy skos:exactMatch MONDO:0016333 semapv:UnspecifiedMatching +OMIMPS:115210 Familial restrictive cardiomyopathy skos:exactMatch MONDO:0016340 semapv:UnspecifiedMatching +OMIMPS:115430 Carpal tunnel syndrome skos:exactMatch MONDO:0007275 semapv:UnspecifiedMatching +OMIMPS:116200 Cataract skos:exactMatch MONDO:0005129 semapv:UnspecifiedMatching +OMIMPS:116860 Cerebral cavernous malformations skos:exactMatch MONDO:0031037 semapv:UnspecifiedMatching +OMIMPS:117000 Myopathy, congenital (see also nemaline myopathy ({PS161800}), myofibrillar myopathy ({PS601419}), and centronuclear myopathy ({PS160150}) skos:exactMatch MONDO:0019952 semapv:UnspecifiedMatching +OMIMPS:118100 Klippel-Feil syndrome skos:exactMatch MONDO:0001029 semapv:UnspecifiedMatching +OMIMPS:118220 Charcot-Marie-Tooth disease skos:exactMatch MONDO:0015626 semapv:UnspecifiedMatching +OMIMPS:118450 Alagille syndrome skos:exactMatch MONDO:0007318 semapv:UnspecifiedMatching +OMIMPS:119530 Orofacial cleft skos:exactMatch MONDO:0000358 semapv:UnspecifiedMatching +OMIMPS:119580 Blepharocheilodontic syndrome skos:exactMatch MONDO:0007339 semapv:UnspecifiedMatching +OMIMPS:120100 Familial cold autoinflammatory syndrome skos:exactMatch MONDO:0018768 semapv:UnspecifiedMatching +OMIMPS:120435 Colorectal cancer, hereditary nonpolyposis skos:exactMatch MONDO:0018630 semapv:UnspecifiedMatching +OMIMPS:120970 Cone-rod dystrophy/Cone dystrophy skos:exactMatch MONDO:0015993 semapv:UnspecifiedMatching +OMIMPS:121200 Seizures, benign familial neonatal skos:exactMatch MONDO:0016027 semapv:UnspecifiedMatching +OMIMPS:121210 Seizures, familial febrile skos:exactMatch MONDO:0000032 semapv:UnspecifiedMatching +OMIMPS:121400 Cornea plana skos:exactMatch MONDO:0000733 semapv:UnspecifiedMatching +OMIMPS:122000 Corneal dystrophy, posterior polymorphous skos:exactMatch MONDO:0020364 semapv:UnspecifiedMatching +OMIMPS:122100 Corneal dystrophy, Meesmann skos:exactMatch MONDO:0007379 semapv:UnspecifiedMatching +OMIMPS:122470 Cornelia de Lange syndrome skos:exactMatch MONDO:0016033 semapv:UnspecifiedMatching +OMIMPS:123000 Craniometaphyseal dysplasia skos:exactMatch MONDO:0015465 semapv:UnspecifiedMatching +OMIMPS:123100 Craniosynostosis skos:exactMatch MONDO:0015469 semapv:UnspecifiedMatching +OMIMPS:123700 Cutis laxa skos:exactMatch MONDO:0100237 semapv:UnspecifiedMatching +OMIMPS:124000 Mitochondrial complex III deficiency, nuclear type skos:exactMatch MONDO:0020811 semapv:UnspecifiedMatching +OMIMPS:124900 Deafness, autosomal dominant skos:exactMatch MONDO:0019587 semapv:UnspecifiedMatching +OMIMPS:125310 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy skos:exactMatch MONDO:0007432 semapv:UnspecifiedMatching +OMIMPS:126200 Multiple sclerosis, susceptibility to skos:exactMatch MONDO:0007462 semapv:UnspecifiedMatching +OMIMPS:126800 Duane retraction syndrome skos:exactMatch MONDO:0007473 semapv:UnspecifiedMatching +OMIMPS:127000 Kenny-Caffey syndrome skos:exactMatch MONDO:0016516 semapv:UnspecifiedMatching +OMIMPS:127500 Dyschromatosis universalis hereditaria skos:exactMatch MONDO:0000736 semapv:UnspecifiedMatching +OMIMPS:127550 Dyskeratosis congenita skos:exactMatch MONDO:0015780 semapv:UnspecifiedMatching +OMIMPS:128100 Dystonia skos:exactMatch MONDO:0044807 semapv:UnspecifiedMatching +OMIMPS:128200 Episodic kinesigenic dyskinesia skos:exactMatch MONDO:0044202 semapv:UnspecifiedMatching +OMIMPS:130000 Ehlers-Danlos syndrome skos:exactMatch MONDO:0020066 semapv:UnspecifiedMatching +OMIMPS:131100 Multiple endocrine neoplasia skos:exactMatch MONDO:0017169 semapv:UnspecifiedMatching +OMIMPS:131760 Epidermolysis Bullosa Simplex skos:exactMatch MONDO:0017610 semapv:UnspecifiedMatching +OMIMPS:132100 Photoparoxysmal response skos:exactMatch MONDO:0015643 semapv:UnspecifiedMatching +OMIMPS:132400 Epiphyseal dysplasia, multiple skos:exactMatch MONDO:0016648 semapv:UnspecifiedMatching +OMIMPS:133100 Erythrocytosis, familial skos:exactMatch MONDO:0001115 semapv:UnspecifiedMatching +OMIMPS:133200 Erythrokeratodermia variabilis et progressiva skos:exactMatch MONDO:0017851 semapv:UnspecifiedMatching +OMIMPS:133700 Exostoses, Multiple skos:exactMatch MONDO:0005508 semapv:UnspecifiedMatching +OMIMPS:133780 Exudative vitreoretinopathy skos:exactMatch MONDO:0019516 semapv:UnspecifiedMatching +OMIMPS:134600 Fanconi renotubular syndrome skos:exactMatch MONDO:0100238 semapv:UnspecifiedMatching +OMIMPS:135150 Birt-Hogg-Dube syndrome skos:exactMatch MONDO:0800444 semapv:UnspecifiedMatching +OMIMPS:135300 Gingival fibromatosis skos:exactMatch MONDO:0016070 semapv:UnspecifiedMatching +OMIMPS:135500 Zimmermann-Laband syndrome skos:exactMatch MONDO:0000200 semapv:UnspecifiedMatching +OMIMPS:135700 Fibrosis of extraocular muscles, congenital skos:exactMatch MONDO:0007614 semapv:UnspecifiedMatching +OMIMPS:135900 Coffin-Siris syndrome skos:exactMatch MONDO:0015452 semapv:UnspecifiedMatching +OMIMPS:136500 Focal facial dermal dysplasia skos:exactMatch MONDO:0018363 semapv:UnspecifiedMatching +OMIMPS:136520 Foveal hypoplasia skos:exactMatch MONDO:0044203 semapv:UnspecifiedMatching +OMIMPS:136550 Macular dystrophy, retinal skos:exactMatch MONDO:0031166 semapv:UnspecifiedMatching +OMIMPS:136760 Frontonasal dysplasia skos:exactMatch MONDO:0016643 semapv:UnspecifiedMatching +OMIMPS:136800 Corneal dystrophy, Fuchs endothelial skos:exactMatch MONDO:0005321 semapv:UnspecifiedMatching +OMIMPS:137800 Glioma skos:exactMatch MONDO:0100242 semapv:UnspecifiedMatching +OMIMPS:137950 Glomerulopathy with fibronectin deposits skos:exactMatch MONDO:0007671 semapv:UnspecifiedMatching +OMIMPS:138800 Goiter, multinodular skos:exactMatch MONDO:0000334 semapv:UnspecifiedMatching +OMIMPS:141200 Hematuria, benign familial skos:exactMatch MONDO:0957317 semapv:UnspecifiedMatching +OMIMPS:141500 Migraine, familial hemiplegic skos:exactMatch MONDO:0000700 semapv:UnspecifiedMatching +OMIMPS:142340 Diaphragmatic hernia skos:exactMatch MONDO:0005711 semapv:UnspecifiedMatching +OMIMPS:142623 Hirschsprung disease skos:exactMatch MONDO:0018309 semapv:UnspecifiedMatching +OMIMPS:142690 Acne inversa skos:exactMatch MONDO:0024516 semapv:UnspecifiedMatching +OMIMPS:142700 Developmental dysplasia of the hip skos:exactMatch MONDO:0000158 semapv:UnspecifiedMatching +OMIMPS:143880 Hypercalcemia, infantile skos:exactMatch MONDO:0000212 semapv:UnspecifiedMatching +OMIMPS:143890 Hypercholesterolemia, familial skos:exactMatch MONDO:0005439 semapv:UnspecifiedMatching +OMIMPS:144200 Palmoplantar keratoderma, epidermolytic skos:exactMatch MONDO:0968949 semapv:UnspecifiedMatching +OMIMPS:145000 Hyperparathyroidism skos:exactMatch MONDO:0016166 semapv:UnspecifiedMatching +OMIMPS:145260 Pseudohypoaldosteronism, type II skos:exactMatch MONDO:0019162 semapv:UnspecifiedMatching +OMIMPS:145420 Teebi hypertelorism syndrome skos:exactMatch MONDO:0030639 semapv:UnspecifiedMatching +OMIMPS:145600 Malignant hyperthermia skos:exactMatch MONDO:0800188 semapv:UnspecifiedMatching +OMIMPS:145980 Hypocalciuric hypercalcemia skos:exactMatch MONDO:0018458 semapv:UnspecifiedMatching +OMIMPS:146200 Hypoparathyroidism, familial skos:exactMatch MONDO:0016390 semapv:UnspecifiedMatching +OMIMPS:146590 Ichthyosis hystrix skos:exactMatch MONDO:0859383 semapv:UnspecifiedMatching +OMIMPS:147060 Hyper-IgE recurrent infection syndrome skos:exactMatch MONDO:0018037 semapv:UnspecifiedMatching +OMIMPS:147920 Kabuki syndrome skos:exactMatch MONDO:0016512 semapv:UnspecifiedMatching +OMIMPS:147950 Hypogonadotropic hypogonadism with or without anosmia skos:exactMatch MONDO:0018555 semapv:UnspecifiedMatching +OMIMPS:148210 Keratitis-ichthyosis-deafness syndrome skos:exactMatch MONDO:0018781 semapv:UnspecifiedMatching +OMIMPS:148300 Keratoconus skos:exactMatch MONDO:0015486 semapv:UnspecifiedMatching +OMIMPS:149400 Hyperekplexia skos:exactMatch MONDO:0021022 semapv:UnspecifiedMatching +OMIMPS:149730 Lacrimoauriculodentodigital syndrome skos:exactMatch MONDO:0007872 semapv:UnspecifiedMatching +OMIMPS:151100 LEOPARD syndrome skos:exactMatch MONDO:0007893 semapv:UnspecifiedMatching +OMIMPS:151660 Lipodystrophy, familial partial skos:exactMatch MONDO:0020088 semapv:UnspecifiedMatching +OMIMPS:153100 Lymphatic malformation skos:exactMatch MONDO:0019313 semapv:UnspecifiedMatching +OMIMPS:153600 Macroglobulinemia, Waldenstrom skos:exactMatch MONDO:0100280 semapv:UnspecifiedMatching +OMIMPS:153840 Macular dystrophy, vitelliform skos:exactMatch MONDO:0000390 semapv:UnspecifiedMatching +OMIMPS:154500 Treacher Collins syndrome skos:exactMatch MONDO:0002457 semapv:UnspecifiedMatching +OMIMPS:155600 Melanoma, cutaneous malignant skos:exactMatch MONDO:0024462 semapv:UnspecifiedMatching +OMIMPS:156200 Intellectual developmental disorder, autosomal dominant skos:exactMatch MONDO:0100172 semapv:UnspecifiedMatching +OMIMPS:156610 Skin creases, congenital symmetric circumferential skos:exactMatch MONDO:0000204 semapv:UnspecifiedMatching +OMIMPS:157300 Migraine with or without aura, susceptibility to skos:exactMatch MONDO:0100246 semapv:UnspecifiedMatching +OMIMPS:157600 Mirror movements skos:exactMatch MONDO:0016558 semapv:UnspecifiedMatching +OMIMPS:157640 Progressive external ophthalmoplegia with mtDNA deletions skos:exactMatch MONDO:0000090 semapv:UnspecifiedMatching +OMIMPS:157700 Mitral valve prolapse, myxomatous skos:exactMatch MONDO:0008004 semapv:UnspecifiedMatching +OMIMPS:158350 Cowden disease skos:exactMatch MONDO:0016063 semapv:UnspecifiedMatching +OMIMPS:158600 Spinal muscular atrophy, lower extremity-predominant skos:exactMatch MONDO:0018190 semapv:UnspecifiedMatching +OMIMPS:158810 Bethlem myopathy skos:exactMatch MONDO:0008029 semapv:UnspecifiedMatching +OMIMPS:158900 Facioscapulohumeral muscular dystrophy skos:exactMatch MONDO:0001347 semapv:UnspecifiedMatching +OMIMPS:160120 Episodic ataxia skos:exactMatch MONDO:0016227 semapv:UnspecifiedMatching +OMIMPS:160150 Myopathy, centronuclear skos:exactMatch MONDO:0018947 semapv:UnspecifiedMatching +OMIMPS:160500 Myopathy, distal skos:exactMatch MONDO:0018949 semapv:UnspecifiedMatching +OMIMPS:160565 Myopathy, tubular aggregate skos:exactMatch MONDO:0008051 semapv:UnspecifiedMatching +OMIMPS:160700 Myopia skos:exactMatch MONDO:0001384 semapv:UnspecifiedMatching +OMIMPS:160900 Myotonic dystrophy skos:exactMatch MONDO:0016107 semapv:UnspecifiedMatching +OMIMPS:161050 Nail disorder, nonsyndromic congenital skos:exactMatch MONDO:0019284 semapv:UnspecifiedMatching +OMIMPS:161400 Narcolepsy skos:exactMatch MONDO:0100554 semapv:UnspecifiedMatching +OMIMPS:161800 Nemaline myopathy skos:exactMatch MONDO:0018958 semapv:UnspecifiedMatching +OMIMPS:161950 IgA nephropathy skos:exactMatch MONDO:0100555 semapv:UnspecifiedMatching +OMIMPS:162000 Tubulointerstitial kidney disease skos:exactMatch MONDO:0000608 semapv:UnspecifiedMatching +OMIMPS:162091 Schwannomatosis skos:exactMatch MONDO:0008075 semapv:UnspecifiedMatching +OMIMPS:162400 Hereditary sensory and autonomic neuropathy skos:exactMatch MONDO:0015364 semapv:UnspecifiedMatching +OMIMPS:163950 Noonan syndrome skos:exactMatch MONDO:0018997 semapv:UnspecifiedMatching +OMIMPS:164210 Craniofacial Microsomia skos:exactMatch MONDO:0015397 semapv:UnspecifiedMatching +OMIMPS:164280 Feingold syndrome skos:exactMatch MONDO:0015267 semapv:UnspecifiedMatching +OMIMPS:164300 Oculopharyngeal muscular dystrophy skos:exactMatch MONDO:0008116 semapv:UnspecifiedMatching +OMIMPS:164310 Oculopharyngodistal myopathy skos:exactMatch MONDO:0025193 semapv:UnspecifiedMatching +OMIMPS:164400 Spinocerebellar ataxia skos:exactMatch MONDO:0020380 semapv:UnspecifiedMatching +OMIMPS:165500 Optic atrophy skos:exactMatch MONDO:0043878 semapv:UnspecifiedMatching +OMIMPS:166200 Osteogenesis imperfecta skos:exactMatch MONDO:0019019 semapv:UnspecifiedMatching +OMIMPS:166780 Otofaciocervical syndrome skos:exactMatch MONDO:0008163 semapv:UnspecifiedMatching +OMIMPS:166800 Otosclerosis skos:exactMatch MONDO:0005349 semapv:UnspecifiedMatching +OMIMPS:167030 Nephrolithiasis, calcium oxalate skos:exactMatch MONDO:0957318 semapv:UnspecifiedMatching +OMIMPS:167200 Pachyonychia congenita skos:exactMatch MONDO:0016471 semapv:UnspecifiedMatching +OMIMPS:167250 Paget disease of bone skos:exactMatch MONDO:0005382 semapv:UnspecifiedMatching +OMIMPS:167320 Inclusion body myopathy/Paget disease/frontotemporal dementia skos:exactMatch MONDO:0000507 semapv:UnspecifiedMatching +OMIMPS:167870 Panic disorder skos:exactMatch MONDO:0031240 semapv:UnspecifiedMatching +OMIMPS:168000 Pheochromocytoma/paraganglioma syndrome skos:exactMatch MONDO:0000448 semapv:UnspecifiedMatching +OMIMPS:168500 Parietal foramina skos:exactMatch MONDO:0018953 semapv:UnspecifiedMatching +OMIMPS:168600 Parkinson disease skos:exactMatch MONDO:0005180 semapv:UnspecifiedMatching +OMIMPS:169150 Macular dystrophy, patterned skos:exactMatch MONDO:0020381 semapv:UnspecifiedMatching +OMIMPS:173900 Polycystic kidney disease skos:exactMatch MONDO:0020642 semapv:UnspecifiedMatching +OMIMPS:174050 Polycystic liver disease skos:exactMatch MONDO:0000447 semapv:UnspecifiedMatching +OMIMPS:174200 Polydactyly, postaxial skos:exactMatch MONDO:0020927 semapv:UnspecifiedMatching +OMIMPS:174400 Polydactyly, preaxial skos:exactMatch MONDO:0017425 semapv:UnspecifiedMatching +OMIMPS:175100 Familial adenomatous polyposis skos:exactMatch MONDO:0021055 semapv:UnspecifiedMatching +OMIMPS:175780 Brain small vessel disease skos:exactMatch MONDO:0020496 semapv:UnspecifiedMatching +OMIMPS:175800 Porokeratosis skos:exactMatch MONDO:0006602 semapv:UnspecifiedMatching +OMIMPS:176400 Precocious puberty, central skos:exactMatch MONDO:0019165 semapv:UnspecifiedMatching +OMIMPS:176670 Progeria skos:exactMatch MONDO:0020732 semapv:UnspecifiedMatching +OMIMPS:177000 Protoporphyria, erythropoietic skos:exactMatch MONDO:0001676 semapv:UnspecifiedMatching +OMIMPS:177200 Liddle syndrome skos:exactMatch MONDO:0008323 semapv:UnspecifiedMatching +OMIMPS:177735 Pseudohypoaldosteronism, type I skos:exactMatch MONDO:0019161 semapv:UnspecifiedMatching +OMIMPS:177900 Psoriasis skos:exactMatch MONDO:0005083 semapv:UnspecifiedMatching +OMIMPS:178110 Contractures, pterygia, and variable skeletal fusions syndrome skos:exactMatch MONDO:0020937 semapv:UnspecifiedMatching +OMIMPS:178600 Pulmonary hypertension, primary (see also hereditary hemorrhagic telangiectasia ({PS187300}) skos:exactMatch MONDO:0017148 semapv:UnspecifiedMatching +OMIMPS:179010 Pyloric stenosis, infantile hypertrophic skos:exactMatch MONDO:0100239 semapv:UnspecifiedMatching +OMIMPS:179800 Distal renal tubular acidosis skos:exactMatch MONDO:0015827 semapv:UnspecifiedMatching +OMIMPS:179850 Reticulate pigment disorders skos:exactMatch MONDO:0000118 semapv:UnspecifiedMatching +OMIMPS:180500 Axenfeld-Rieger syndrome skos:exactMatch MONDO:0019187 semapv:UnspecifiedMatching +OMIMPS:180849 Rubinstein-Taybi syndrome skos:exactMatch MONDO:0019188 semapv:UnspecifiedMatching +OMIMPS:180860 Silver-Russell syndrome skos:exactMatch MONDO:0008394 semapv:UnspecifiedMatching +OMIMPS:182250 Singleton-Merten syndrome skos:exactMatch MONDO:0008429 semapv:UnspecifiedMatching +OMIMPS:182960 Neuronopathy, distal hereditary motor, autosomal dominant skos:exactMatch MONDO:0015362 semapv:UnspecifiedMatching +OMIMPS:183600 Split-hand/foot malformation skos:exactMatch MONDO:0016576 semapv:UnspecifiedMatching +OMIMPS:184255 Spondylometaphyseal dysplasia skos:exactMatch MONDO:0016763 semapv:UnspecifiedMatching +OMIMPS:184260 Odontochondrodysplasia skos:exactMatch MONDO:0031169 semapv:UnspecifiedMatching +OMIMPS:184450 Stuttering, familial persistent skos:exactMatch MONDO:0000723 semapv:UnspecifiedMatching +OMIMPS:184840 Otospondylomegaepiphyseal dysplasia skos:exactMatch MONDO:0008975 semapv:UnspecifiedMatching +OMIMPS:185800 Proximal symphalangism skos:exactMatch MONDO:0008511 semapv:UnspecifiedMatching +OMIMPS:186500 Multiple synostoses syndrome skos:exactMatch MONDO:0017923 semapv:UnspecifiedMatching +OMIMPS:187300 Telangiectasia, hereditary hemorrhagic (see also primary pulmonary hypertension ({PS178600}) skos:exactMatch MONDO:0019180 semapv:UnspecifiedMatching +OMIMPS:187950 Thrombocythemia skos:exactMatch MONDO:0019111 semapv:UnspecifiedMatching +OMIMPS:188050 Thrombophilia skos:exactMatch MONDO:0100240 semapv:UnspecifiedMatching +OMIMPS:188550 Thyroid cancer, nonmedullary skos:exactMatch MONDO:0017896 semapv:UnspecifiedMatching +OMIMPS:188580 Thyrotoxic periodic paralysis skos:exactMatch MONDO:0019201 semapv:UnspecifiedMatching +OMIMPS:189800 Preeclampsia/eclampsia skos:exactMatch MONDO:0005081 semapv:UnspecifiedMatching +OMIMPS:190300 Tremor, hereditary essential skos:exactMatch MONDO:0003233 semapv:UnspecifiedMatching +OMIMPS:190350 Trichorhinophalangeal syndrome skos:exactMatch MONDO:0017951 semapv:UnspecifiedMatching +OMIMPS:190440 Trigonocephaly, isolated skos:exactMatch MONDO:0018065 semapv:UnspecifiedMatching +OMIMPS:191100 Tuberous sclerosis skos:exactMatch MONDO:0001734 semapv:UnspecifiedMatching +OMIMPS:191830 Renal hypodysplasia/aplasia skos:exactMatch MONDO:0018470 semapv:UnspecifiedMatching +OMIMPS:192500 Long QT syndrome skos:exactMatch MONDO:0019171 semapv:UnspecifiedMatching +OMIMPS:192600 Cardiomyopathy, familial hypertrophic skos:exactMatch MONDO:0024573 semapv:UnspecifiedMatching +OMIMPS:193000 Vesicoureteral reflux skos:exactMatch MONDO:0017329 semapv:UnspecifiedMatching +OMIMPS:193100 Hypophosphatemic rickets skos:exactMatch MONDO:0000044 semapv:UnspecifiedMatching +OMIMPS:193500 Waardenburg syndrome skos:exactMatch MONDO:0018094 semapv:UnspecifiedMatching +OMIMPS:193670 WHIM syndrome skos:exactMatch MONDO:0023880 semapv:UnspecifiedMatching +OMIMPS:193900 White sponge nevus skos:exactMatch MONDO:0015748 semapv:UnspecifiedMatching +OMIMPS:194070 Wilms tumor skos:exactMatch MONDO:0003321 semapv:UnspecifiedMatching +OMIMPS:200600 Achondrogenesis skos:exactMatch MONDO:0019648 semapv:UnspecifiedMatching +OMIMPS:201000 Carpenter syndrome skos:exactMatch MONDO:0019012 semapv:UnspecifiedMatching +OMIMPS:202200 Glucocorticoid deficiency skos:exactMatch MONDO:0008733 semapv:UnspecifiedMatching +OMIMPS:202700 Neutropenia, severe congenital skos:exactMatch MONDO:0018542 semapv:UnspecifiedMatching +OMIMPS:203100 Oculocutaneous albinism skos:exactMatch MONDO:0018910 semapv:UnspecifiedMatching +OMIMPS:203300 Hermansky-Pudlak syndrome skos:exactMatch MONDO:0019312 semapv:UnspecifiedMatching +OMIMPS:203650 Alopecia-intellectual disability syndrome skos:exactMatch MONDO:0008756 semapv:UnspecifiedMatching +OMIMPS:203655 Alopecia, isolated skos:exactMatch MONDO:0000005 semapv:UnspecifiedMatching +OMIMPS:204000 Leber congenital amaurosis skos:exactMatch MONDO:0018998 semapv:UnspecifiedMatching +OMIMPS:206100 Anemia, hypochromic microcytic, with iron overload skos:exactMatch MONDO:0000104 semapv:UnspecifiedMatching +OMIMPS:206500 Anencephaly skos:exactMatch MONDO:0000819 semapv:UnspecifiedMatching +OMIMPS:208000 Generalized arterial calcification of infancy skos:exactMatch MONDO:0018870 semapv:UnspecifiedMatching +OMIMPS:208085 Arthrogryposis, renal dysfunction, and cholestasis skos:exactMatch MONDO:0017123 semapv:UnspecifiedMatching +OMIMPS:208150 Fetal akinesia deformation sequence skos:exactMatch MONDO:0008824 semapv:UnspecifiedMatching +OMIMPS:208500 Short-rib thoracic dysplasia skos:exactMatch MONDO:0018770 semapv:UnspecifiedMatching +OMIMPS:208540 Renal-hepatic-pancreatic dysplasia skos:exactMatch MONDO:0017417 semapv:UnspecifiedMatching +OMIMPS:209850 skos:exactMatch MONDO:0020836 semapv:UnspecifiedMatching +OMIMPS:209880 Central hypoventilation syndrome, congenital skos:exactMatch MONDO:0800031 semapv:UnspecifiedMatching +OMIMPS:209900 Bardet-Biedl syndrome skos:exactMatch MONDO:0015229 semapv:UnspecifiedMatching +OMIMPS:209920 MHC class II deficiency skos:exactMatch MONDO:0008855 semapv:UnspecifiedMatching +OMIMPS:210200 Methylcrotonylglycinuria skos:exactMatch MONDO:0018950 semapv:UnspecifiedMatching +OMIMPS:210250 Sitosterolemia skos:exactMatch MONDO:0008863 semapv:UnspecifiedMatching +OMIMPS:210600 Seckel syndrome skos:exactMatch MONDO:0019342 semapv:UnspecifiedMatching +OMIMPS:210900 Microcephaly, growth restriction and increased sister chromatid exchange skos:exactMatch MONDO:0020629 semapv:UnspecifiedMatching +OMIMPS:211400 Bronchiectasis skos:exactMatch MONDO:0004822 semapv:UnspecifiedMatching +OMIMPS:211530 Brown-Vialetto-Van Laere syndrome skos:exactMatch MONDO:0008891 semapv:UnspecifiedMatching +OMIMPS:211600 Cholestasis, progressive familial intrahepatic skos:exactMatch MONDO:0015762 semapv:UnspecifiedMatching +OMIMPS:212065 Congenital disorders of glycosylation, type I skos:exactMatch MONDO:0005500 semapv:UnspecifiedMatching +OMIMPS:212066 Congenital disorders of glycosylation, type II skos:exactMatch MONDO:0005501 semapv:UnspecifiedMatching +OMIMPS:212093 Cardiac Valvular Defect skos:exactMatch MONDO:0031323 semapv:UnspecifiedMatching +OMIMPS:212720 Martsolf syndrome skos:exactMatch MONDO:0023910 semapv:UnspecifiedMatching +OMIMPS:212750 Celiac disease skos:exactMatch MONDO:0005130 semapv:UnspecifiedMatching +OMIMPS:213200 Spinocerebellar ataxia, autosomal recessive skos:exactMatch MONDO:0015244 semapv:UnspecifiedMatching +OMIMPS:213300 Joubert syndrome skos:exactMatch MONDO:0018772 semapv:UnspecifiedMatching +OMIMPS:213600 Basal ganglia calcification, idiopathic skos:exactMatch MONDO:0008947 semapv:UnspecifiedMatching +OMIMPS:213980 Craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome skos:exactMatch MONDO:0031329 semapv:UnspecifiedMatching +OMIMPS:214100 Peroxisome biogenesis disorder skos:exactMatch MONDO:0019234 semapv:UnspecifiedMatching +OMIMPS:214150 Cerebrooculofacioskeletal syndrome skos:exactMatch MONDO:0008926 semapv:UnspecifiedMatching +OMIMPS:214450 Griscelli syndrome skos:exactMatch MONDO:0018306 semapv:UnspecifiedMatching +OMIMPS:214700 Diarrhea, congenital skos:exactMatch MONDO:0000824 semapv:UnspecifiedMatching +OMIMPS:215100 Rhizomelic chondrodysplasia punctata skos:exactMatch MONDO:0015776 semapv:UnspecifiedMatching +OMIMPS:215500 Choroidal dystrophy, central areolar skos:exactMatch MONDO:0008982 semapv:UnspecifiedMatching +OMIMPS:215700 Citrullinemia skos:exactMatch MONDO:0015991 semapv:UnspecifiedMatching +OMIMPS:218330 Cranioectodermal dysplasia skos:exactMatch MONDO:0009032 semapv:UnspecifiedMatching +OMIMPS:219000 Fraser syndrome skos:exactMatch MONDO:0009046 semapv:UnspecifiedMatching +OMIMPS:220110 Mitochondrial complex IV deficiency, nuclear-type skos:exactMatch MONDO:0033885 semapv:UnspecifiedMatching +OMIMPS:220150 Hypouricemia, renal skos:exactMatch MONDO:0968951 semapv:UnspecifiedMatching +OMIMPS:220210 Ritscher-Schinzel syndrome skos:exactMatch MONDO:0019078 semapv:UnspecifiedMatching +OMIMPS:220290 Deafness, autosomal recessive skos:exactMatch MONDO:0019588 semapv:UnspecifiedMatching +OMIMPS:220400 Jervell and Lange-Nielsen syndrome skos:exactMatch MONDO:0002441 semapv:UnspecifiedMatching +OMIMPS:221770 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly skos:exactMatch MONDO:0009092 semapv:UnspecifiedMatching +OMIMPS:221820 Leukoencephalopathy, hereditary diffuse, with spheroids skos:exactMatch MONDO:0030796 semapv:UnspecifiedMatching +OMIMPS:221900 Persistent hyperplastic primary vitreous skos:exactMatch MONDO:0019631 semapv:UnspecifiedMatching +OMIMPS:222470 Trichohepatoenteric syndrome skos:exactMatch MONDO:0009105 semapv:UnspecifiedMatching +OMIMPS:223360 Orthostatic hypotension skos:exactMatch MONDO:0021272 semapv:UnspecifiedMatching +OMIMPS:224050 Cerebellar ataxia, mental retardation, and dysequilibrium skos:exactMatch MONDO:0009133 semapv:UnspecifiedMatching +OMIMPS:224120 Anemia, congenital dyserythropoietic skos:exactMatch MONDO:0019403 semapv:UnspecifiedMatching +OMIMPS:224690 Meier-Gorlin syndrome skos:exactMatch MONDO:0016817 semapv:UnspecifiedMatching +OMIMPS:225750 Aicardi-Goutieres syndrome skos:exactMatch MONDO:0018866 semapv:UnspecifiedMatching +OMIMPS:226400 Epidermodysplasia verruciformis, susceptibility to skos:exactMatch MONDO:0100043 semapv:UnspecifiedMatching +OMIMPS:226650 Epidermolysis bullosa, junctional skos:exactMatch MONDO:0017612 semapv:UnspecifiedMatching +OMIMPS:227220 Skin/hair/eye pigmentation, variation in skos:exactMatch MONDO:0033196 semapv:UnspecifiedMatching +OMIMPS:227650 Fanconi anemia skos:exactMatch MONDO:0019391 semapv:UnspecifiedMatching +OMIMPS:228520 Fibrochondrogenesis skos:exactMatch MONDO:0016068 semapv:UnspecifiedMatching +OMIMPS:228550 Infantile myofibromatosis skos:exactMatch MONDO:0016824 semapv:UnspecifiedMatching +OMIMPS:229200 Brittle cornea syndrome skos:exactMatch MONDO:0009242 semapv:UnspecifiedMatching +OMIMPS:230400 Galactosemia skos:exactMatch MONDO:0018116 semapv:UnspecifiedMatching +OMIMPS:231050 Geleophysic dysplasia skos:exactMatch MONDO:0000127 semapv:UnspecifiedMatching +OMIMPS:231090 Hydatidiform mole, recurrent skos:exactMatch MONDO:0006248 semapv:UnspecifiedMatching +OMIMPS:231200 Bleeding disorder, platelet-type skos:exactMatch MONDO:0000009 semapv:UnspecifiedMatching +OMIMPS:232200 Glycogen storage disease skos:exactMatch MONDO:0002412 semapv:UnspecifiedMatching +OMIMPS:233300 Ovarian dysgenesis skos:exactMatch MONDO:0009299 semapv:UnspecifiedMatching +OMIMPS:233400 Perrault syndrome skos:exactMatch MONDO:0017312 semapv:UnspecifiedMatching +OMIMPS:234200 Neurodegeneration with brain iron accumulation skos:exactMatch MONDO:0018307 semapv:UnspecifiedMatching +OMIMPS:235200 Hemochromatosis skos:exactMatch MONDO:0006507 semapv:UnspecifiedMatching +OMIMPS:235400 Hemolytic uremic syndrome skos:exactMatch MONDO:0957097 semapv:UnspecifiedMatching +OMIMPS:235510 Hennekam lymphangiectasia-lymphedema syndrome skos:exactMatch MONDO:0016256 semapv:UnspecifiedMatching +OMIMPS:236100 Holoprosencephaly skos:exactMatch MONDO:0016296 semapv:UnspecifiedMatching +OMIMPS:236600 Hydrocephalus, congenital skos:exactMatch MONDO:0016349 semapv:UnspecifiedMatching +OMIMPS:236670 Muscular dystrophy-dystroglycanopathy, type A skos:exactMatch MONDO:0000171 semapv:UnspecifiedMatching +OMIMPS:236680 Hydrolethalus syndrome skos:exactMatch MONDO:0006037 semapv:UnspecifiedMatching +OMIMPS:236730 Urofacial syndrome skos:exactMatch MONDO:0000463 semapv:UnspecifiedMatching +OMIMPS:237450 Hyperbilirubinemia skos:exactMatch MONDO:0002408 semapv:UnspecifiedMatching +OMIMPS:239300 Hyperphosphatasia with mental retardation syndrome skos:exactMatch MONDO:0016596 semapv:UnspecifiedMatching +OMIMPS:241550 Hypoplastic left heart syndrome skos:exactMatch MONDO:0004933 semapv:UnspecifiedMatching +OMIMPS:242300 Ichthyosis, congenital, autosomal recessive skos:exactMatch MONDO:0017265 semapv:UnspecifiedMatching +OMIMPS:242860 Immunodeficiency-centromeric instability-facial anomalies skos:exactMatch MONDO:0000133 semapv:UnspecifiedMatching +OMIMPS:243150 Gastrointestinal defect and immunodeficiency syndrome skos:exactMatch MONDO:0030831 semapv:UnspecifiedMatching +OMIMPS:243180 Visceral neuropathy, familial skos:exactMatch MONDO:0023961 semapv:UnspecifiedMatching +OMIMPS:243300 Cholestasis, benign recurrent intrahepatic skos:exactMatch MONDO:0019008 semapv:UnspecifiedMatching +OMIMPS:243310 Baraitser-Winter syndrome skos:exactMatch MONDO:0017579 semapv:UnspecifiedMatching +OMIMPS:244400 Primary ciliary dyskinesia skos:exactMatch MONDO:0016575 semapv:UnspecifiedMatching +OMIMPS:245480 Specific granule deficiency skos:exactMatch MONDO:0009506 semapv:UnspecifiedMatching +OMIMPS:245590 Growth hormone insensitivity syndrome with immune dysregulation skos:exactMatch MONDO:0100210 semapv:UnspecifiedMatching +OMIMPS:248370 Mandibuloacral dysplasia with lipodystrophy skos:exactMatch MONDO:0016584 semapv:UnspecifiedMatching +OMIMPS:248600 Maple syrup urine disease skos:exactMatch MONDO:0009563 semapv:UnspecifiedMatching +OMIMPS:249000 Meckel syndrome skos:exactMatch MONDO:0018921 semapv:UnspecifiedMatching +OMIMPS:249210 Megacystis-microcolon-intestinal hypoperistalsis syndrome skos:exactMatch MONDO:0025986 semapv:UnspecifiedMatching +OMIMPS:249270 Thiamine-responsive dysfunction syndrome skos:exactMatch MONDO:0000152 semapv:UnspecifiedMatching +OMIMPS:249500 Intellectual developmental disorder, autosomal recessive skos:exactMatch MONDO:0019502 semapv:UnspecifiedMatching +OMIMPS:250950 3-Methylglutaconic aciduria skos:exactMatch MONDO:0017359 semapv:UnspecifiedMatching +OMIMPS:251200 Microcephaly, primary skos:exactMatch MONDO:0016660 semapv:UnspecifiedMatching +OMIMPS:251270 Microcephaly and chorioretinopathy skos:exactMatch MONDO:0000181 semapv:UnspecifiedMatching +OMIMPS:251280 Diencephalic-mesencephalic junction dysplasia syndrome skos:exactMatch MONDO:0017868 semapv:UnspecifiedMatching +OMIMPS:251290 Pseudo-TORCH syndrome skos:exactMatch MONDO:0009626 semapv:UnspecifiedMatching +OMIMPS:251300 Galloway-Mowat syndrome skos:exactMatch MONDO:0009627 semapv:UnspecifiedMatching +OMIMPS:251450 Desbuquois dysplasia skos:exactMatch MONDO:0015426 semapv:UnspecifiedMatching +OMIMPS:251600 Microphthalmia, isolated skos:exactMatch MONDO:0000062 semapv:UnspecifiedMatching +OMIMPS:252010 Mitochondrial complex I deficiency, nuclear type skos:exactMatch MONDO:0100223 semapv:UnspecifiedMatching +OMIMPS:252011 Mitochondrial complex II deficiency, nuclear type skos:exactMatch MONDO:0031230 semapv:UnspecifiedMatching +OMIMPS:252150 Molybdenum cofactor deficiency skos:exactMatch MONDO:0020480 semapv:UnspecifiedMatching +OMIMPS:252270 Monosomy 7 myelodysplasia and leukemia syndrome skos:exactMatch MONDO:0044645 semapv:UnspecifiedMatching +OMIMPS:252350 Moyamoya disease skos:exactMatch MONDO:0016820 semapv:UnspecifiedMatching +OMIMPS:253310 Lethal congenital contracture syndrome skos:exactMatch MONDO:0017436 semapv:UnspecifiedMatching +OMIMPS:253600 Muscular dystrophy, limb-girdle, autosomal recessive skos:exactMatch MONDO:0015152 semapv:UnspecifiedMatching +OMIMPS:254090 Ullrich congenital muscular dystrophy skos:exactMatch MONDO:0000355 semapv:UnspecifiedMatching +OMIMPS:254130 Miyoshi muscular dystrophy skos:exactMatch MONDO:0009685 semapv:UnspecifiedMatching +OMIMPS:254770 Epilepsy, myoclonic juvenile skos:exactMatch MONDO:0009696 semapv:UnspecifiedMatching +OMIMPS:254780 Myoclonic epilepsy of Lafora skos:exactMatch MONDO:0009697 semapv:UnspecifiedMatching +OMIMPS:254800 Epilepsy, progressive myoclonic skos:exactMatch MONDO:0020074 semapv:UnspecifiedMatching +OMIMPS:254940 Carey-Fineman-Ziter syndrome skos:exactMatch MONDO:0031415 semapv:UnspecifiedMatching +OMIMPS:256040 Proteosome-associated autoinflammatory syndrome skos:exactMatch MONDO:0009726 semapv:UnspecifiedMatching +OMIMPS:256100 Nephronophthisis skos:exactMatch MONDO:0019005 semapv:UnspecifiedMatching +OMIMPS:256300 Nephrotic syndrome skos:exactMatch MONDO:0002350 semapv:UnspecifiedMatching +OMIMPS:256450 Hyperinsulinemia hypoglycemia skos:exactMatch MONDO:0005803 semapv:UnspecifiedMatching +OMIMPS:256520 Neu-Laxova syndrome skos:exactMatch MONDO:0000179 semapv:UnspecifiedMatching +OMIMPS:256550 Mucolipidosis skos:exactMatch MONDO:0031422 semapv:UnspecifiedMatching +OMIMPS:256730 Ceroid lipofuscinoses skos:exactMatch MONDO:0016295 semapv:UnspecifiedMatching +OMIMPS:256850 Giant axonal neuropathy skos:exactMatch MONDO:0000128 semapv:UnspecifiedMatching +OMIMPS:257300 Mosaic variegated aneuploidy syndrome skos:exactMatch MONDO:0000141 semapv:UnspecifiedMatching +OMIMPS:257920 3MC syndrome skos:exactMatch MONDO:0017398 semapv:UnspecifiedMatching +OMIMPS:258150 Spermatogenic failure skos:exactMatch MONDO:0004983 semapv:UnspecifiedMatching +OMIMPS:258315 Omodysplasia skos:exactMatch MONDO:0017136 semapv:UnspecifiedMatching +OMIMPS:259100 Hypertropic osteoarthropathy, primary skos:exactMatch MONDO:0016620 semapv:UnspecifiedMatching +OMIMPS:259450 Bruck syndrome skos:exactMatch MONDO:0017195 semapv:UnspecifiedMatching +OMIMPS:259700 Osteopetrosis, autosomal recessive skos:exactMatch MONDO:0019026 semapv:UnspecifiedMatching +OMIMPS:259900 Hyperoxaluria, primary skos:exactMatch MONDO:0002474 semapv:UnspecifiedMatching +OMIMPS:260370 Pancreatic agenesis skos:exactMatch MONDO:0009832 semapv:UnspecifiedMatching +OMIMPS:260400 Schwachman-Diamond syndrome skos:exactMatch MONDO:0009833 semapv:UnspecifiedMatching +OMIMPS:261100 Imerslund-Grasbeck syndrome skos:exactMatch MONDO:0009853 semapv:UnspecifiedMatching +OMIMPS:262400 Isolated growth hormone deficiency skos:exactMatch MONDO:0000050 semapv:UnspecifiedMatching +OMIMPS:265120 Surfactant metabolism dysfunction, pulmonary skos:exactMatch MONDO:0012580 semapv:UnspecifiedMatching +OMIMPS:265450 Pulmonary venoocclusive disease skos:exactMatch MONDO:0009937 semapv:UnspecifiedMatching +OMIMPS:266600 Inflammatory bowel disease skos:exactMatch MONDO:0005265 semapv:UnspecifiedMatching +OMIMPS:266900 Senior-Loken syndrome skos:exactMatch MONDO:0017842 semapv:UnspecifiedMatching +OMIMPS:267700 Hemophagocytic lymphohistiocytosis, familial skos:exactMatch MONDO:0015541 semapv:UnspecifiedMatching +OMIMPS:267750 Knobloch syndrome skos:exactMatch MONDO:0800166 semapv:UnspecifiedMatching +OMIMPS:268000 Retinitis pigmentosa skos:exactMatch MONDO:0019200 semapv:UnspecifiedMatching +OMIMPS:268310 Robinow syndrome skos:exactMatch MONDO:0019978 semapv:UnspecifiedMatching +OMIMPS:268400 Rothmund-Thomson syndrome skos:exactMatch MONDO:0010002 semapv:UnspecifiedMatching +OMIMPS:269500 Sclerosteosis skos:exactMatch MONDO:0017838 semapv:UnspecifiedMatching +OMIMPS:270300 Peeling skin syndrome skos:exactMatch MONDO:0019347 semapv:UnspecifiedMatching +OMIMPS:271640 Spondyloepimetaphyseal dysplasia with joint laxity skos:exactMatch MONDO:0019675 semapv:UnspecifiedMatching +OMIMPS:271930 Striatonigral degeneration skos:exactMatch MONDO:0003122 semapv:UnspecifiedMatching +OMIMPS:272430 Cold-induced sweating syndrome skos:exactMatch MONDO:0015526 semapv:UnspecifiedMatching +OMIMPS:273395 Tetraamelia syndrome skos:exactMatch MONDO:0010110 semapv:UnspecifiedMatching +OMIMPS:273750 Three M syndrome skos:exactMatch MONDO:0007477 semapv:UnspecifiedMatching +OMIMPS:273800 Glanzmann thrombasthenia skos:exactMatch MONDO:0100326 semapv:UnspecifiedMatching +OMIMPS:274400 Thyroid dyshormonogenesis skos:exactMatch MONDO:0010132 semapv:UnspecifiedMatching +OMIMPS:275200 Hypothyroidism, congenital, nongoitrous skos:exactMatch MONDO:0000045 semapv:UnspecifiedMatching +OMIMPS:275210 Restrictive dermopathy skos:exactMatch MONDO:0031213 semapv:UnspecifiedMatching +OMIMPS:276300 Mismatch repair cancer syndrome skos:exactMatch MONDO:0031219 semapv:UnspecifiedMatching +OMIMPS:276700 Tyrosinemia skos:exactMatch MONDO:0004741 semapv:UnspecifiedMatching +OMIMPS:276900 Usher syndrome skos:exactMatch MONDO:0019501 semapv:UnspecifiedMatching +OMIMPS:277180 Vas deferens, congenital bilateral aplasia of skos:exactMatch MONDO:0018801 semapv:UnspecifiedMatching +OMIMPS:277300 Spondylocostal dysostosis skos:exactMatch MONDO:0000359 semapv:UnspecifiedMatching +OMIMPS:277400 Methylmalonic aciduria and homocystinuria skos:exactMatch MONDO:0016826 semapv:UnspecifiedMatching +OMIMPS:277450 Vitamin K-dependent clotting factors, combined deficiency of skos:exactMatch MONDO:0015722 semapv:UnspecifiedMatching +OMIMPS:277600 Weill-Marchesani syndrome skos:exactMatch MONDO:0018096 semapv:UnspecifiedMatching +OMIMPS:278000 Lysosomal acid lipase deficiency skos:exactMatch MONDO:0800449 semapv:UnspecifiedMatching +OMIMPS:278300 Xanthinuria skos:exactMatch MONDO:0018106 semapv:UnspecifiedMatching +OMIMPS:300009 Dent disease skos:exactMatch MONDO:0015612 semapv:UnspecifiedMatching +OMIMPS:300049 Periventricular nodular heterotopia skos:exactMatch MONDO:0020341 semapv:UnspecifiedMatching +OMIMPS:300291 Ectodermal dysplasia and immune deficiency skos:exactMatch MONDO:0010293 semapv:UnspecifiedMatching +OMIMPS:300345 Microphthalmia, isolated, with coloboma skos:exactMatch MONDO:0000170 semapv:UnspecifiedMatching +OMIMPS:300352 Cerebral creatine deficiency syndrome skos:exactMatch MONDO:0000456 semapv:UnspecifiedMatching +OMIMPS:300491 Epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features skos:exactMatch MONDO:0859390 semapv:UnspecifiedMatching +OMIMPS:300633 Hypospadias skos:exactMatch MONDO:0005345 semapv:UnspecifiedMatching +OMIMPS:300751 Anemia, Sideroblastic skos:exactMatch MONDO:0020099 semapv:UnspecifiedMatching +OMIMPS:300755 Immunodeficiency (select examples) skos:exactMatch MONDO:0021094 semapv:UnspecifiedMatching +OMIMPS:300818 Paroxysmal nocturnal hemoglobinuria skos:exactMatch MONDO:0100244 semapv:UnspecifiedMatching +OMIMPS:301050 Alport syndrome skos:exactMatch MONDO:0018965 semapv:UnspecifiedMatching +OMIMPS:301108 Cataracts, hearing impairment, nephrotic syndrome, and enterocolitis 1 skos:exactMatch MONDO:0957400 semapv:UnspecifiedMatching +OMIMPS:303350 Spastic paraplegia skos:exactMatch MONDO:0019064 semapv:UnspecifiedMatching +OMIMPS:304500 Deafness, X-linked skos:exactMatch MONDO:0020768 semapv:UnspecifiedMatching +OMIMPS:305100 Ectodermal dysplasia (select examples) skos:exactMatch MONDO:0019287 semapv:UnspecifiedMatching +OMIMPS:305450 FG syndrome skos:exactMatch MONDO:0002010 semapv:UnspecifiedMatching +OMIMPS:305620 Frontometaphyseal dysplasia skos:exactMatch MONDO:0015942 semapv:UnspecifiedMatching +OMIMPS:306400 Granulomatous disease, chronic skos:exactMatch MONDO:0018305 semapv:UnspecifiedMatching +OMIMPS:306955 Heterotaxy, visceral skos:exactMatch MONDO:0018677 semapv:UnspecifiedMatching +OMIMPS:308205 IFAP syndrome skos:exactMatch MONDO:0100212 semapv:UnspecifiedMatching +OMIMPS:308230 Immunodeficiency with hyper-IgM skos:exactMatch MONDO:0003947 semapv:UnspecifiedMatching +OMIMPS:308240 Lymphoproliferative syndrome skos:exactMatch MONDO:0016537 semapv:UnspecifiedMatching +OMIMPS:308350 Developmental and epileptic encephalopathy skos:exactMatch MONDO:0100062 semapv:UnspecifiedMatching +OMIMPS:309510 Intellectual developmental disorder, X-linked syndromic skos:exactMatch MONDO:0020119 semapv:UnspecifiedMatching +OMIMPS:309530 Intellectual developmental disorder, nonsyndromic, X-linked skos:exactMatch MONDO:0019181 semapv:UnspecifiedMatching +OMIMPS:309800 Microphthalmia, syndromic skos:exactMatch MONDO:0016073 semapv:UnspecifiedMatching +OMIMPS:309801 Linear skin defects with multiple congenital anomalies skos:exactMatch MONDO:0010672 semapv:UnspecifiedMatching +OMIMPS:310300 Emery-Dreifuss muscular dystrophy skos:exactMatch MONDO:0016830 semapv:UnspecifiedMatching +OMIMPS:310500 Night blindness, congenital stationary skos:exactMatch MONDO:0016293 semapv:UnspecifiedMatching +OMIMPS:310700 Nystagmus, congenital skos:exactMatch MONDO:0005712 semapv:UnspecifiedMatching +OMIMPS:311200 Orofaciodigital syndrome skos:exactMatch MONDO:0015375 semapv:UnspecifiedMatching +OMIMPS:311360 Premature ovarian failure skos:exactMatch MONDO:0019852 semapv:UnspecifiedMatching +OMIMPS:312080 Leukodystrophy, hypomyelinating skos:exactMatch MONDO:0019046 semapv:UnspecifiedMatching +OMIMPS:312170 Pyruvate dehydrogenase complex deficiency skos:exactMatch MONDO:0019169 semapv:UnspecifiedMatching +OMIMPS:313900 Thrombocytopenia skos:exactMatch MONDO:0100241 semapv:UnspecifiedMatching +OMIMPS:314580 Wieacker-Wolff syndrome skos:exactMatch MONDO:0025445 semapv:UnspecifiedMatching +OMIMPS:400043 Deafness, Y-linked skos:exactMatch MONDO:0033304 semapv:UnspecifiedMatching +OMIMPS:400044 46,XY sex reversal skos:exactMatch MONDO:0010765 semapv:UnspecifiedMatching +OMIMPS:600118 Warburg micro syndrome skos:exactMatch MONDO:0016649 semapv:UnspecifiedMatching +OMIMPS:600131 Epilepsy, childhood absence skos:exactMatch MONDO:0010826 semapv:UnspecifiedMatching +OMIMPS:600165 Nanophthalmos skos:exactMatch MONDO:0005514 semapv:UnspecifiedMatching +OMIMPS:600462 Myopathy, lactic acidosis, and sideroblastic anemia skos:exactMatch MONDO:0000863 semapv:UnspecifiedMatching +OMIMPS:600512 Epilepsy, familial temporal lobe skos:exactMatch MONDO:0005115 semapv:UnspecifiedMatching +OMIMPS:600513 Epilepsy, nocturnal frontal lobe skos:exactMatch MONDO:0000030 semapv:UnspecifiedMatching +OMIMPS:600630 UV-sensitive syndrome skos:exactMatch MONDO:0015797 semapv:UnspecifiedMatching +OMIMPS:600669 Epilepsy, idiopathic generalized skos:exactMatch MONDO:0005579 semapv:UnspecifiedMatching +OMIMPS:600721 D-2-hydroxyglutaric aciduria skos:exactMatch MONDO:0010924 semapv:UnspecifiedMatching +OMIMPS:600803 Gallbladder disease skos:exactMatch MONDO:0700225 semapv:UnspecifiedMatching +OMIMPS:601068 Epilepsy, familial adult myoclonic skos:exactMatch MONDO:0000160 semapv:UnspecifiedMatching +OMIMPS:601104 Supranuclear palsy, progressive skos:exactMatch MONDO:0019037 semapv:UnspecifiedMatching +OMIMPS:601144 Brugada syndrome skos:exactMatch MONDO:0015263 semapv:UnspecifiedMatching +OMIMPS:601198 Hypocalcemia skos:exactMatch MONDO:0018543 semapv:UnspecifiedMatching +OMIMPS:601228 Polyposis syndrome, hereditary mixed skos:exactMatch MONDO:0011023 semapv:UnspecifiedMatching +OMIMPS:601390 Van Maldergem syndrome skos:exactMatch MONDO:0017813 semapv:UnspecifiedMatching +OMIMPS:601419 Myopathy, myofibrillar skos:exactMatch MONDO:0018943 semapv:UnspecifiedMatching +OMIMPS:601457 Severe combined immunodeficiency (select examples) skos:exactMatch MONDO:0031520 semapv:UnspecifiedMatching +OMIMPS:601462 Myasthenic syndrome, congenital skos:exactMatch MONDO:0018940 semapv:UnspecifiedMatching +OMIMPS:601471 Facial paresis, hereditary congenital skos:exactMatch MONDO:0011090 semapv:UnspecifiedMatching +OMIMPS:601495 Agammaglobulinemia skos:exactMatch MONDO:0015977 semapv:UnspecifiedMatching +OMIMPS:601559 Stuve-Wiedemann syndrome skos:exactMatch MONDO:0031280 semapv:UnspecifiedMatching +OMIMPS:601675 Trichothiodystrophy skos:exactMatch MONDO:0018053 semapv:UnspecifiedMatching +OMIMPS:601678 Bartter syndrome skos:exactMatch MONDO:0015231 semapv:UnspecifiedMatching +OMIMPS:601764 Seizures, benign familial infantile skos:exactMatch MONDO:0017615 semapv:UnspecifiedMatching +OMIMPS:602014 Hypomagnesemia skos:exactMatch MONDO:0018100 semapv:UnspecifiedMatching +OMIMPS:602483 Auriculocondylar syndrome skos:exactMatch MONDO:0000107 semapv:UnspecifiedMatching +OMIMPS:602588 Branchiootic syndrome skos:exactMatch MONDO:0018878 semapv:UnspecifiedMatching +OMIMPS:602875 Acromesomelic dysplasia skos:exactMatch MONDO:0019696 semapv:UnspecifiedMatching +OMIMPS:603041 Mitochondrial DNA depletion syndrome skos:exactMatch MONDO:0018158 semapv:UnspecifiedMatching +OMIMPS:603075 Macular degeneration, age-related skos:exactMatch MONDO:0005150 semapv:UnspecifiedMatching +OMIMPS:603165 Dermatitis, atopic skos:exactMatch MONDO:0100178 semapv:UnspecifiedMatching +OMIMPS:603278 Focal segmental glomerulosclerosis skos:exactMatch MONDO:0005363 semapv:UnspecifiedMatching +OMIMPS:603387 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome skos:exactMatch MONDO:0019375 semapv:UnspecifiedMatching +OMIMPS:603511 Muscular dystrophy, limb-girdle, autosomal dominant skos:exactMatch MONDO:0015151 semapv:UnspecifiedMatching +OMIMPS:603896 Leukoencephalopathy with vanishing white matter skos:exactMatch MONDO:0800448 semapv:UnspecifiedMatching +OMIMPS:603933 Microvascular complications of diabetes skos:exactMatch MONDO:0000065 semapv:UnspecifiedMatching +OMIMPS:604004 Leukoencephalopathy, megalencephalic skos:exactMatch MONDO:0000137 semapv:UnspecifiedMatching +OMIMPS:604169 Left ventricular noncompaction skos:exactMatch MONDO:0018901 semapv:UnspecifiedMatching +OMIMPS:604233 Epilepsy, generalized, with febrile seizures plus skos:exactMatch MONDO:0018214 semapv:UnspecifiedMatching +OMIMPS:604273 Mitochondrial complex V (ATP synthase) deficiency, nuclear type skos:exactMatch MONDO:0014471 semapv:UnspecifiedMatching +OMIMPS:604320 Neuronopathy, distal hereditary motor, autosomal recessive skos:exactMatch MONDO:0015363 semapv:UnspecifiedMatching +OMIMPS:604348 Advanced sleep phase syndrome skos:exactMatch MONDO:0015609 semapv:UnspecifiedMatching +OMIMPS:604364 Epilepsy, familial focal, with variable foci skos:exactMatch MONDO:0020310 semapv:UnspecifiedMatching +OMIMPS:604370 Breast-ovarian cancer, familial, susceptibility to skos:exactMatch MONDO:0100526 semapv:UnspecifiedMatching +OMIMPS:604391 Ataxia-telangiectasia-like disorder skos:exactMatch MONDO:0011457 semapv:UnspecifiedMatching +OMIMPS:604498 Amegakaryocytic thrombocytopenia, congenital skos:exactMatch MONDO:0800451 semapv:UnspecifiedMatching +OMIMPS:604571 MHC class I deficiency skos:exactMatch MONDO:0011476 semapv:UnspecifiedMatching +OMIMPS:604772 Ventricular tachycardia, catecholaminergic polymorphic skos:exactMatch MONDO:0017990 semapv:UnspecifiedMatching +OMIMPS:604931 Cortisone reductase deficiency skos:exactMatch MONDO:0000193 semapv:UnspecifiedMatching +OMIMPS:605253 Neuropathy, congenital hypomelinating skos:exactMatch MONDO:0033352 semapv:UnspecifiedMatching +OMIMPS:605389 Hypotrichosis skos:exactMatch MONDO:0003037 semapv:UnspecifiedMatching +OMIMPS:605432 Radioulnar synostosis with amegakaryocytic thrombocytopenia skos:exactMatch MONDO:0011555 semapv:UnspecifiedMatching +OMIMPS:605552 Abdominal obesity-metabolic syndrome skos:exactMatch MONDO:0000816 semapv:UnspecifiedMatching +OMIMPS:605711 Multiple mitochondrial dysfunctions syndrome skos:exactMatch MONDO:0017338 semapv:UnspecifiedMatching +OMIMPS:605899 Glycine encephalopathy skos:exactMatch MONDO:0011612 semapv:UnspecifiedMatching +OMIMPS:606176 Diabetes mellitus, permanent neonatal skos:exactMatch MONDO:0100164 semapv:UnspecifiedMatching +OMIMPS:606215 Atrioventricular septal defect skos:exactMatch MONDO:0020290 semapv:UnspecifiedMatching +OMIMPS:606703 Dyskinesia with orofacial involvement skos:exactMatch MONDO:0031115 semapv:UnspecifiedMatching +OMIMPS:606711 Specific language impairment skos:exactMatch MONDO:0000724 semapv:UnspecifiedMatching +OMIMPS:606777 Glut1 deficiency syndrome skos:exactMatch MONDO:0000188 semapv:UnspecifiedMatching +OMIMPS:607014 Mucopolysaccharidoses skos:exactMatch MONDO:0019249 semapv:UnspecifiedMatching +OMIMPS:607086 Aortic aneurysm, familial thoracic skos:exactMatch MONDO:0019625 semapv:UnspecifiedMatching +OMIMPS:607095 Anauxetic dysplasia skos:exactMatch MONDO:0011773 semapv:UnspecifiedMatching +OMIMPS:607250 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy skos:exactMatch MONDO:0020771 semapv:UnspecifiedMatching +OMIMPS:607313 Gaze palsy, familial horizontal, with progressive scoliosis skos:exactMatch MONDO:0011810 semapv:UnspecifiedMatching +OMIMPS:607326 Smith-McCort dysplasia skos:exactMatch MONDO:0015799 semapv:UnspecifiedMatching +OMIMPS:607411 Patent ductus arteriosus skos:exactMatch MONDO:0011827 semapv:UnspecifiedMatching +OMIMPS:607426 Coenzyme Q10 deficiency, primary skos:exactMatch MONDO:0018151 semapv:UnspecifiedMatching +OMIMPS:607432 Lissencephaly skos:exactMatch MONDO:0018838 semapv:UnspecifiedMatching +OMIMPS:607594 Immunodeficiency, common variable skos:exactMatch MONDO:0015517 semapv:UnspecifiedMatching +OMIMPS:607596 Pontocerebellar hypoplasia skos:exactMatch MONDO:0020135 semapv:UnspecifiedMatching +OMIMPS:607602 Ichthyosis, annular epidermolytic skos:exactMatch MONDO:0011870 semapv:UnspecifiedMatching +OMIMPS:607631 Epilepsy, juvenile absence skos:exactMatch MONDO:1030001 semapv:UnspecifiedMatching +OMIMPS:607634 Osteopetrosis, autosomal dominant skos:exactMatch MONDO:0020645 semapv:UnspecifiedMatching +OMIMPS:607721 Noonan syndrome-like disorder with loose anagen hair skos:exactMatch MONDO:0011899 semapv:UnspecifiedMatching +OMIMPS:607748 Hypercholanemia, familial skos:exactMatch MONDO:0100327 semapv:UnspecifiedMatching +OMIMPS:607765 Bile acid synthesis defect, congenital skos:exactMatch MONDO:0018841 semapv:UnspecifiedMatching +OMIMPS:608207 Kala-azar, susceptibility to skos:exactMatch MONDO:0005445 semapv:UnspecifiedMatching +OMIMPS:608354 Capillary malformation-arteriovenous malformation skos:exactMatch MONDO:0012016 semapv:UnspecifiedMatching +OMIMPS:608415 Prolonged electroretinal response suppression skos:exactMatch MONDO:0012033 semapv:UnspecifiedMatching +OMIMPS:608567 Sick sinus syndrome skos:exactMatch MONDO:0012061 semapv:UnspecifiedMatching +OMIMPS:608583 Atrial fibrillation, familial skos:exactMatch MONDO:0018054 semapv:UnspecifiedMatching +OMIMPS:608594 Lipodystrophy, congenital generalized skos:exactMatch MONDO:0006536 semapv:UnspecifiedMatching +OMIMPS:608638 Asperger syndrome, susceptibility to skos:exactMatch MONDO:0100440 semapv:UnspecifiedMatching +OMIMPS:608805 Avascular necrosis of femoral head, primary skos:exactMatch MONDO:0012126 semapv:UnspecifiedMatching +OMIMPS:609015 Mitochondrial trifunctional protein deficiency skos:exactMatch MONDO:0012172 semapv:UnspecifiedMatching +OMIMPS:609060 Combined oxidative phosphorylation deficiency skos:exactMatch MONDO:0000732 semapv:UnspecifiedMatching +OMIMPS:609129 Auditory neuropathy skos:exactMatch MONDO:0021944 semapv:UnspecifiedMatching +OMIMPS:609161 Striatal degeneration, autosomal dominant skos:exactMatch MONDO:0000211 semapv:UnspecifiedMatching +OMIMPS:609192 Loeys-Dietz syndrome skos:exactMatch MONDO:0018954 semapv:UnspecifiedMatching +OMIMPS:609308 Muscular dystrophy-dystroglycanopathy, type C skos:exactMatch MONDO:0000173 semapv:UnspecifiedMatching +OMIMPS:609322 Rhabdoid tumor predisposition syndrome skos:exactMatch MONDO:0016473 semapv:UnspecifiedMatching +OMIMPS:609620 Short QT syndrome skos:exactMatch MONDO:0000453 semapv:UnspecifiedMatching +OMIMPS:609628 Chronic recurrent multifocal osteomyelitis skos:exactMatch MONDO:0009813 semapv:UnspecifiedMatching +OMIMPS:609698 Thyroid hormone metabolism, abnormal skos:exactMatch MONDO:0031432 semapv:UnspecifiedMatching +OMIMPS:610253 Kleefstra syndrome skos:exactMatch MONDO:0012455 semapv:UnspecifiedMatching +OMIMPS:610448 Chilblain lupus skos:exactMatch MONDO:0018827 semapv:UnspecifiedMatching +OMIMPS:610460 Thiopurines, poor metabolism of skos:exactMatch MONDO:0000210 semapv:UnspecifiedMatching +OMIMPS:610489 Pigmented nodular adrenocortical disease, primary skos:exactMatch MONDO:0015999 semapv:UnspecifiedMatching +OMIMPS:610542 Myasthenic syndrome, congenital, with tubular aggregates skos:exactMatch MONDO:0000182 semapv:UnspecifiedMatching +OMIMPS:610551 Encephalopathy/encephalitis, acute, infection-induced skos:exactMatch MONDO:0000166 semapv:UnspecifiedMatching +OMIMPS:610799 skos:exactMatch MONDO:0000049 semapv:UnspecifiedMatching +OMIMPS:610805 Congenital anomalies of kidney and urinary tract skos:exactMatch MONDO:0019719 semapv:UnspecifiedMatching +OMIMPS:612199 Cerebroretinal microangiopathy with calcfications and cysts skos:exactMatch MONDO:0012815 semapv:UnspecifiedMatching +OMIMPS:612286 Nephrolithiasis/osteoporosis, hypophosphatemic skos:exactMatch MONDO:0000079 semapv:UnspecifiedMatching +OMIMPS:612900 Spastic quadriplegic cerebral palsy skos:exactMatch MONDO:0016215 semapv:UnspecifiedMatching +OMIMPS:612975 Short sleep, familial natural skos:exactMatch MONDO:0044278 semapv:UnspecifiedMatching +OMIMPS:613038 Pituitary hormone deficiency, combined skos:exactMatch MONDO:0013099 semapv:UnspecifiedMatching +OMIMPS:613112 Macrothrombocytopenia, isolated skos:exactMatch MONDO:0031447 semapv:UnspecifiedMatching +OMIMPS:613135 Parkinsonism-dystonia, infantile skos:exactMatch MONDO:0013150 semapv:UnspecifiedMatching +OMIMPS:613155 Muscular dystrophy-dystroglycanopathy, type B skos:exactMatch MONDO:0000172 semapv:UnspecifiedMatching +OMIMPS:613280 Hypermanganesemia with dystonia skos:exactMatch MONDO:0000214 semapv:UnspecifiedMatching +OMIMPS:613339 Hot water epilepsy skos:exactMatch MONDO:0013229 semapv:UnspecifiedMatching +OMIMPS:613573 Ectodermal dysplasia-syndactyly syndrome skos:exactMatch MONDO:0013311 semapv:UnspecifiedMatching +OMIMPS:613652 C1q deficiency skos:exactMatch MONDO:0013343 semapv:UnspecifiedMatching +OMIMPS:613658 Rajab interstitial lung disease with brain calcifications skos:exactMatch MONDO:0100214 semapv:UnspecifiedMatching +OMIMPS:614039 Cortical dysplasia, complex, with other brain malformations skos:exactMatch MONDO:0000904 semapv:UnspecifiedMatching +OMIMPS:614080 Multiple congenital anomalies-hypotonia-seizures syndrome skos:exactMatch MONDO:0100247 semapv:UnspecifiedMatching +OMIMPS:614231 Microcephaly, epilepsy, and diabetes syndrome skos:exactMatch MONDO:0100328 semapv:UnspecifiedMatching +OMIMPS:614328 skos:exactMatch MONDO:0017411 semapv:UnspecifiedMatching +OMIMPS:614372 Lectin complement activation pathway defects skos:exactMatch MONDO:0044209 semapv:UnspecifiedMatching +OMIMPS:614388 Encephalopathy due to defective mitochondrial and peroxisomal fission skos:exactMatch MONDO:0054865 semapv:UnspecifiedMatching +OMIMPS:614429 Ventricular septal defect skos:exactMatch MONDO:0002070 semapv:UnspecifiedMatching +OMIMPS:614592 Bent bone dysplasia syndrome skos:exactMatch MONDO:0031615 semapv:UnspecifiedMatching +OMIMPS:614594 Olmsted syndrome skos:exactMatch MONDO:0031421 semapv:UnspecifiedMatching +OMIMPS:614675 Bone marrow failure syndrome skos:exactMatch MONDO:0000159 semapv:UnspecifiedMatching +OMIMPS:614742 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related skos:exactMatch MONDO:0000148 semapv:UnspecifiedMatching +OMIMPS:614937 Myoclonus, familial skos:exactMatch MONDO:0013981 semapv:UnspecifiedMatching +OMIMPS:615040 Familial episodic pain syndrome skos:exactMatch MONDO:0018319 semapv:UnspecifiedMatching +OMIMPS:615273 Congenital disorder of deglycosylation skos:exactMatch MONDO:0031376 semapv:UnspecifiedMatching +OMIMPS:615419 Hypotonia, infantile, with psychomotor retardation and characteristic facies skos:exactMatch MONDO:0014176 semapv:UnspecifiedMatching +OMIMPS:615438 Infantile liver failure syndrome skos:exactMatch MONDO:0000023 semapv:UnspecifiedMatching +OMIMPS:615774 Oocyte/zygote/embryo maturation arrest skos:exactMatch MONDO:0014769 semapv:UnspecifiedMatching +OMIMPS:615895 Polyglucosan body myopathy skos:exactMatch MONDO:0000192 semapv:UnspecifiedMatching +OMIMPS:615952 Autoimmune disease, multisystem, infantile-onset skos:exactMatch MONDO:0000213 semapv:UnspecifiedMatching +OMIMPS:616033 Microcephaly, short stature, and impaired glucose metabolism skos:exactMatch MONDO:0800450 semapv:UnspecifiedMatching +OMIMPS:616263 Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset skos:exactMatch MONDO:0024189 semapv:UnspecifiedMatching +OMIMPS:616355 Houge-Janssens syndrome skos:exactMatch MONDO:0957553 semapv:UnspecifiedMatching +OMIMPS:616418 Hypomagnesemia, seizures, and mental retardation skos:exactMatch MONDO:0014631 semapv:UnspecifiedMatching +OMIMPS:616744 Autoinflammatory syndrome, familial, Behcet-like skos:exactMatch MONDO:0031384 semapv:UnspecifiedMatching +OMIMPS:616814 skos:exactMatch MONDO:0000218 semapv:UnspecifiedMatching +OMIMPS:616866 Spinal muscular atrophy with congenital bone fractures skos:exactMatch MONDO:0000209 semapv:UnspecifiedMatching +OMIMPS:616901 Developmental delay with short stature, dysmorphic facial features, and sparse hair skos:exactMatch MONDO:0031632 semapv:UnspecifiedMatching +OMIMPS:617068 Portal hypertension, noncirrhotic skos:exactMatch MONDO:0024193 semapv:UnspecifiedMatching +OMIMPS:617186 Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy skos:exactMatch MONDO:0014960 semapv:UnspecifiedMatching +OMIMPS:617236 Cone-rod dystrophy and hearing loss skos:exactMatch MONDO:0014980 semapv:UnspecifiedMatching +OMIMPS:617290 Epilepsy, early-onset skos:exactMatch MONDO:0957599 semapv:UnspecifiedMatching +OMIMPS:617468 Arthrogryposis multiplex congenita skos:exactMatch MONDO:0015168 semapv:UnspecifiedMatching +OMIMPS:617660 Vertebral, cardiac, renal, and limb defects syndrome skos:exactMatch MONDO:0020831 semapv:UnspecifiedMatching +OMIMPS:617711 skos:exactMatch MONDO:0020627 semapv:UnspecifiedMatching +OMIMPS:617877 Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies skos:exactMatch MONDO:0031439 semapv:UnspecifiedMatching +OMIMPS:618005 Congenital disorder of glycosylation with defective fucosylation skos:exactMatch MONDO:0060720 semapv:UnspecifiedMatching +OMIMPS:618332 Menke-Hennekam syndrome skos:exactMatch MONDO:0020774 semapv:UnspecifiedMatching +OMIMPS:619115 Combined osteogenesis imperfecta and Ehlers-Danlos syndrome skos:exactMatch MONDO:0016470 semapv:UnspecifiedMatching +OMIMPS:619142 Cardioacrofacial dysplasia skos:exactMatch MONDO:0031386 semapv:UnspecifiedMatching +OMIMPS:619382 Leber hereditary optic neuropathy, autosomal recessive skos:exactMatch MONDO:0030309 semapv:UnspecifiedMatching +OMIMPS:619539 Neuroocular syndrome skos:exactMatch MONDO:0859193 semapv:UnspecifiedMatching +OMIMPS:619611 Interstitial lung disease skos:exactMatch MONDO:0031199 semapv:UnspecifiedMatching +OMIMPS:619720 Bryant-Li-Bhoj neurodevelopmental syndrome skos:exactMatch MONDO:0031200 semapv:UnspecifiedMatching +OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome skos:exactMatch MONDO:0031400 semapv:UnspecifiedMatching +OMIMPS:619980 Braddock-Carey Syndrome skos:exactMatch MONDO:0031646 semapv:UnspecifiedMatching +OMIMPS:620184 Atelis syndrome skos:exactMatch MONDO:0859393 semapv:UnspecifiedMatching diff --git a/src/ontology/Makefile b/src/ontology/Makefile index baa9ada9..9bfb57cc 100644 --- a/src/ontology/Makefile +++ b/src/ontology/Makefile @@ -1,7 +1,7 @@ # ---------------------------------------- # Makefile for mondo-ingest # Generated using ontology-development-kit -# ODK Version: v1.5-dev +# ODK Version: v1.5.3 # ---------------------------------------- # IMPORTANT: DO NOT EDIT THIS FILE. To override default make goals, use mondo-ingest.Makefile instead @@ -47,7 +47,7 @@ REPORT_PROFILE_OPTS = --profile $(ROBOT_PROFILE) OBO_FORMAT_OPTIONS = SPARQL_VALIDATION_CHECKS = properties-as-annotation-and-object ordo-mapping-annotations SPARQL_EXPORTS = basic-report -ODK_VERSION_MAKEFILE = v1.5-dev +ODK_VERSION_MAKEFILE = v1.5.3 TODAY ?= $(shell date +%Y-%m-%d) OBODATE ?= $(shell date +'%d:%m:%Y %H:%M') diff --git a/src/ontology/external/mondo-omim-genes.robot.owl b/src/ontology/external/mondo-omim-genes.robot.owl index f342a362..85a3fa74 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#"> - + @@ -2620,6 +2620,12 @@ + + + + + + @@ -6166,6 +6172,12 @@ + + + + + + @@ -6688,12 +6700,6 @@ - - - - - - @@ -7198,6 +7204,12 @@ + + + + + + @@ -8056,6 +8068,12 @@ + + + + + + @@ -10930,6 +10948,12 @@ + + + + + + @@ -11968,12 +11992,6 @@ - - - - - - @@ -13018,12 +13036,6 @@ - - - - - - @@ -13636,12 +13648,6 @@ - - - - - - @@ -14302,6 +14308,12 @@ + + + + + + @@ -15202,6 +15214,12 @@ + + + + + + @@ -16984,6 +17002,12 @@ + + + + + + @@ -19486,6 +19510,12 @@ + + + + + + @@ -29122,19 +29152,37 @@ - + - + + + + + + + + + OMIM:300615 + + + + + + + + + + - + OMIM:300635 @@ -29143,16 +29191,16 @@ - + - + - + OMIM:300643 @@ -29161,16 +29209,16 @@ - + - + - + OMIM:300653 @@ -29179,16 +29227,16 @@ - + - + - + OMIM:300659 @@ -29197,16 +29245,16 @@ - + - + - + OMIM:300672 @@ -29215,16 +29263,16 @@ - + - + - + OMIM:300676 @@ -29233,16 +29281,16 @@ - + - + - + OMIM:300699 @@ -29251,16 +29299,16 @@ - + - + - + OMIM:309590 @@ -29269,16 +29317,16 @@ - + - + - + OMIM:300707 @@ -29287,16 +29335,16 @@ - + - + - + OMIM:300758 @@ -29305,16 +29353,16 @@ - + - + - + OMIM:300770 @@ -29323,16 +29371,16 @@ - + - + - + OMIM:300799 @@ -29341,16 +29389,16 @@ - + - + - + OMIM:300802 @@ -29359,16 +29407,16 @@ - + - + - + OMIM:300803 @@ -29377,16 +29425,16 @@ - + - + - + OMIM:300813 @@ -29395,16 +29443,16 @@ - + - + - + OMIM:300830 @@ -29413,16 +29461,16 @@ - + - + - + OMIM:300849 @@ -29431,16 +29479,16 @@ - + - + - + OMIM:300850 @@ -29449,16 +29497,16 @@ - + - + - + OMIM:300857 @@ -29467,16 +29515,16 @@ - + - + - + OMIM:300860 @@ -29485,16 +29533,16 @@ - + - + - + OMIM:300863 @@ -29503,16 +29551,16 @@ - + - + - + OMIM:300867 @@ -29521,16 +29569,16 @@ - + - + - + OMIM:300872 @@ -29539,16 +29587,16 @@ - + - + - + OMIM:300882 @@ -29557,16 +29605,16 @@ - + - + - + OMIM:300884 @@ -29575,16 +29623,16 @@ - + - + - + OMIM:300887 @@ -29593,16 +29641,16 @@ - + - + - + OMIM:300888 @@ -29611,16 +29659,16 @@ - + - + - + OMIM:300894 @@ -29629,16 +29677,16 @@ - + - + - + OMIM:300896 @@ -29647,16 +29695,16 @@ - + - + - + OMIM:300905 @@ -29665,16 +29713,16 @@ - + - + - + OMIM:300912 @@ -29683,16 +29731,16 @@ - + - + - + OMIM:300914 @@ -29701,16 +29749,16 @@ - + - + - + OMIM:300915 @@ -29719,16 +29767,16 @@ - + - + - + OMIM:300928 @@ -29737,16 +29785,16 @@ - + - + - + OMIM:300934 @@ -29755,16 +29803,16 @@ - + - + - + OMIM:300943 @@ -29773,16 +29821,16 @@ - + - + - + OMIM:300946 @@ -29791,35 +29839,17 @@ - - - - - - - - - - - OMIM:300953 - - - - - - - - + - + - OMIM:300957 + OMIM:300953 @@ -32542,37 +32572,19 @@ - - - - - - - - - - - - - - OMIM:604169 - - - - - + - + - + OMIM:604173 @@ -32581,16 +32593,16 @@ - + - + - + OMIM:604213 @@ -32599,16 +32611,16 @@ - + - + - + OMIM:604218 @@ -32617,16 +32629,16 @@ - + - + - + OMIM:604219 @@ -32635,16 +32647,16 @@ - + - + - + OMIM:604250 @@ -32653,16 +32665,16 @@ - + - + - + OMIM:604273 @@ -32671,16 +32683,16 @@ - + - + - + OMIM:604278 @@ -32689,16 +32701,16 @@ - + - + - + OMIM:604286 @@ -32707,16 +32719,16 @@ - + - + - + OMIM:604290 @@ -32725,16 +32737,16 @@ - + - + - + OMIM:604302 @@ -32743,16 +32755,16 @@ - + - + - + OMIM:604317 @@ -32761,16 +32773,16 @@ - + - + - + OMIM:604321 @@ -32779,16 +32791,16 @@ - + - + - + OMIM:604326 @@ -32797,16 +32809,16 @@ - + - + - + OMIM:604348 @@ -32815,16 +32827,16 @@ - + - + - + OMIM:604356 @@ -32833,16 +32845,16 @@ - + - + - + OMIM:604432 @@ -32851,16 +32863,16 @@ - + - + - + OMIM:604536 @@ -32869,16 +32881,16 @@ - + - + - + OMIM:604537 @@ -32887,16 +32899,16 @@ - + - + - + OMIM:604563 @@ -32905,16 +32917,16 @@ - + - + - + OMIM:604625 @@ -32923,16 +32935,16 @@ - + - + - + OMIM:604715 @@ -32941,16 +32953,16 @@ - + - + - + OMIM:604777 @@ -32959,16 +32971,16 @@ - + - + - + OMIM:604804 @@ -32977,16 +32989,16 @@ - + - + - + OMIM:604906 @@ -32995,16 +33007,16 @@ - + - + - + OMIM:604928 @@ -33013,16 +33025,16 @@ - + - + - + OMIM:604931 @@ -33031,16 +33043,16 @@ - + - + - + OMIM:605019 @@ -33049,16 +33061,16 @@ - + - + - + OMIM:605130 @@ -33067,16 +33079,16 @@ - + - + - + OMIM:605258 @@ -33085,16 +33097,16 @@ - + - + - + OMIM:605259 @@ -33103,16 +33115,16 @@ - + - + - + OMIM:605282 @@ -33121,16 +33133,16 @@ - + - + - + OMIM:605361 @@ -33139,16 +33151,16 @@ - + - + - + OMIM:605375 @@ -33157,16 +33169,16 @@ - + - + - + OMIM:605376 @@ -33175,16 +33187,16 @@ - + - + - + OMIM:605387 @@ -33193,16 +33205,16 @@ - + - + - + OMIM:605389 @@ -33211,16 +33223,16 @@ - + - + - + OMIM:605407 @@ -33229,16 +33241,16 @@ - + - + - + OMIM:605428 @@ -33247,16 +33259,16 @@ - + - + - + OMIM:605429 @@ -33265,16 +33277,16 @@ - + - + - + OMIM:605583 @@ -33283,16 +33295,16 @@ - + - + - + OMIM:605637 @@ -33301,16 +33313,16 @@ - + - + - + OMIM:605670 @@ -33319,16 +33331,16 @@ - + - + - + OMIM:605850 @@ -33337,16 +33349,16 @@ - + - + - + OMIM:605909 @@ -33355,16 +33367,16 @@ - + - + - + OMIM:605911 @@ -33373,16 +33385,16 @@ - + - + - + OMIM:605990 @@ -33391,16 +33403,16 @@ - + - + - + OMIM:606003 @@ -33409,16 +33421,16 @@ - + - + - + OMIM:606053 @@ -33427,16 +33439,16 @@ - + - + - + OMIM:606056 @@ -33445,16 +33457,16 @@ - + - + - + OMIM:606068 @@ -33463,16 +33475,16 @@ - + - + - + OMIM:606069 @@ -33481,16 +33493,16 @@ - + - + - + OMIM:606070 @@ -33499,16 +33511,16 @@ - + - + - + OMIM:606164 @@ -33517,16 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+33889,16 @@ - + - + - + OMIM:607151 @@ -33895,16 +33907,16 @@ - + - + - + OMIM:607200 @@ -33913,16 +33925,16 @@ - + - + - + OMIM:607250 @@ -33931,16 +33943,16 @@ - + - + - + OMIM:607259 @@ -33949,16 +33961,16 @@ - + - + - + OMIM:607277 @@ -33967,16 +33979,16 @@ - + - + - + OMIM:607317 @@ -33985,16 +33997,16 @@ - + - + - + OMIM:607330 @@ -34003,16 +34015,16 @@ - + - + - + OMIM:607398 @@ -34021,16 +34033,16 @@ - + - + - + OMIM:607417 @@ -34039,16 +34051,16 @@ - + - + - + OMIM:607453 @@ -34057,16 +34069,16 @@ - + - + - + OMIM:607454 @@ -34075,16 +34087,16 @@ - + - + - + OMIM:607483 @@ -34093,16 +34105,16 @@ - + - + - + OMIM:607594 @@ -34111,16 +34123,16 @@ - + - + - + OMIM:607624 @@ -34129,16 +34141,16 @@ - + - + - + OMIM:607625 @@ -34147,16 +34159,16 @@ - + - + - + OMIM:607626 @@ -34165,16 +34177,16 @@ - + - + - + OMIM:607676 @@ -34183,16 +34195,16 @@ - + - + - + OMIM:607688 @@ -34201,16 +34213,16 @@ - + - + - + OMIM:607765 @@ -34219,16 +34231,16 @@ - + - + - + OMIM:607785 @@ -34237,16 +34249,16 @@ - + - + - + OMIM:607812 @@ -34255,16 +34267,16 @@ - + - + - + OMIM:607832 @@ -34273,16 +34285,16 @@ - + - + - + OMIM:607836 @@ -34291,16 +34303,16 @@ - + - + - + OMIM:607842 @@ -34309,16 +34321,16 @@ - + - + - + OMIM:607876 @@ -34327,16 +34339,16 @@ - + - + - + OMIM:607903 @@ -34345,16 +34357,16 @@ - + - + - + OMIM:607921 @@ -34363,16 +34375,16 @@ - + - + - + OMIM:607936 @@ -34381,16 +34393,16 @@ - + - + - + OMIM:607944 @@ -34399,16 +34411,16 @@ - + - + - + OMIM:608022 @@ -34417,16 +34429,16 @@ - + - + - + OMIM:608027 @@ -34435,16 +34447,16 @@ - + - + - + OMIM:608033 @@ -34453,16 +34465,16 @@ - + - + - + OMIM:608097 @@ -34471,16 +34483,16 @@ - + - + - + OMIM:608099 @@ -34489,16 +34501,16 @@ - + - + - + OMIM:608106 @@ -34507,16 +34519,16 @@ - + - + - + OMIM:608118 @@ -34525,16 +34537,16 @@ - + - + - + OMIM:608133 @@ -34543,16 +34555,16 @@ - + - + - + OMIM:608175 @@ -34561,16 +34573,16 @@ - + - + - + OMIM:608224 @@ -34579,16 +34591,16 @@ - + - + - + OMIM:608233 @@ -34597,16 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+35329,16 @@ - + - + - + OMIM:609115 @@ -35335,16 +35347,16 @@ - + - + - + OMIM:609129 @@ -35353,16 +35365,16 @@ - + - + - + OMIM:609148 @@ -35371,16 +35383,16 @@ - + - + - + OMIM:609180 @@ -35389,16 +35401,16 @@ - + - + - + OMIM:609195 @@ -35407,16 +35419,16 @@ - + - + - + OMIM:609200 @@ -35425,16 +35437,16 @@ - + - + - + OMIM:609218 @@ -35443,16 +35455,16 @@ - + - + - + OMIM:609220 @@ -35461,16 +35473,16 @@ - + - + - + OMIM:609227 @@ -35479,16 +35491,16 @@ - + - + - + OMIM:609254 @@ -35497,16 +35509,16 @@ - + - + - + OMIM:609273 @@ -35515,16 +35527,16 @@ - + - + - + OMIM:609296 @@ -35533,16 +35545,16 @@ - + - + - + OMIM:609304 @@ -35551,16 +35563,16 @@ - + - + - + OMIM:609306 @@ -35569,16 +35581,16 @@ - + - + - + OMIM:609311 @@ -35587,16 +35599,16 @@ - + - + - + OMIM:609313 @@ -35605,16 +35617,16 @@ - + - + - + OMIM:609340 @@ -35623,16 +35635,16 @@ - + - + - + OMIM:609404 @@ -35641,16 +35653,16 @@ - + - + - + OMIM:609460 @@ -35659,16 +35671,16 @@ - + - + - + OMIM:609528 @@ -35677,16 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+36409,16 @@ - + - + - + OMIM:610359 @@ -36415,16 +36427,16 @@ - + - + - + OMIM:610370 @@ -36433,16 +36445,16 @@ - + - + - + OMIM:610419 @@ -36451,16 +36463,16 @@ - + - + - + OMIM:610425 @@ -36469,16 +36481,16 @@ - + - + - + OMIM:610427 @@ -36487,16 +36499,16 @@ - + - + - + OMIM:610442 @@ -36505,16 +36517,16 @@ - + - + - + OMIM:610443 @@ -36523,16 +36535,16 @@ - + - + - + OMIM:610460 @@ -36541,16 +36553,16 @@ - + - + - + OMIM:610475 @@ -36559,16 +36571,16 @@ - + - + - + OMIM:610478 @@ -36577,16 +36589,16 @@ - + - + - + OMIM:610498 @@ -36595,16 +36607,16 @@ - + - + - + OMIM:610505 @@ -36613,16 +36625,16 @@ - + - + - + OMIM:610508 @@ -36631,16 +36643,16 @@ - + - + - + OMIM:610536 @@ -36649,16 +36661,16 @@ - + - + - + OMIM:610542 @@ -36667,16 +36679,16 @@ - + - + - + OMIM:610599 @@ -36685,16 +36697,16 @@ - + - + - + OMIM:610612 @@ -36703,16 +36715,16 @@ - + - + - + OMIM:610628 @@ -36721,16 +36733,16 @@ - + - + - + OMIM:610629 @@ -36739,16 +36751,16 @@ - + - + - + OMIM:610678 @@ -36757,16 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http://identifiers.org/hgnc/8592 OM http://purl.obolibrary.org/obo/MONDO_0010362 http://identifiers.org/hgnc/8925 OMIM:300559 https://omim.org/entry/311870 http://purl.obolibrary.org/obo/MONDO_0010373 http://identifiers.org/hgnc/13711 OMIM:300604 https://omim.org/entry/300603 http://purl.obolibrary.org/obo/MONDO_0010375 http://identifiers.org/hgnc/14561 OMIM:300607 https://omim.org/entry/300429 +http://purl.obolibrary.org/obo/MONDO_0010379 http://identifiers.org/hgnc/6833 OMIM:300615 https://omim.org/entry/309850 http://purl.obolibrary.org/obo/MONDO_0010385 http://identifiers.org/hgnc/592 OMIM:300635 https://omim.org/entry/300079 http://purl.obolibrary.org/obo/MONDO_0010388 http://identifiers.org/hgnc/30668 OMIM:300643 https://omim.org/entry/300642 http://purl.obolibrary.org/obo/MONDO_0010392 http://identifiers.org/hgnc/8896 OMIM:300653 https://omim.org/entry/311800 @@ -561,7 +562,6 @@ http://purl.obolibrary.org/obo/MONDO_0010490 http://identifiers.org/hgnc/11326 O 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http://purl.obolibrary.org/obo/MONDO_0014748 http://identifiers.org/hgnc/29420 OMIM:616723 https://omim.org/entry/616585 http://purl.obolibrary.org/obo/MONDO_0014750 http://identifiers.org/hgnc/4166 OMIM:616726 https://omim.org/entry/605178 -http://purl.obolibrary.org/obo/MONDO_0014751 http://identifiers.org/hgnc/29079 OMIM:616728 https://omim.org/entry/609132 http://purl.obolibrary.org/obo/MONDO_0014755 http://identifiers.org/hgnc/6891 OMIM:616734 https://omim.org/entry/605789 http://purl.obolibrary.org/obo/MONDO_0014756 http://identifiers.org/hgnc/29945 OMIM:616736 https://omim.org/entry/610084 http://purl.obolibrary.org/obo/MONDO_0014757 http://identifiers.org/hgnc/1736 OMIM:616737 https://omim.org/entry/116952 @@ -2969,6 +2966,7 @@ http://purl.obolibrary.org/obo/MONDO_0859197 http://identifiers.org/hgnc/19998 O http://purl.obolibrary.org/obo/MONDO_0859198 http://identifiers.org/hgnc/19904 OMIM:619557 https://omim.org/entry/615894 http://purl.obolibrary.org/obo/MONDO_0859199 http://identifiers.org/hgnc/29259 OMIM:619575 https://omim.org/entry/610266 http://purl.obolibrary.org/obo/MONDO_0859200 http://identifiers.org/hgnc/24662 OMIM:619576 https://omim.org/entry/606492 +http://purl.obolibrary.org/obo/MONDO_0859203 http://identifiers.org/hgnc/19980 OMIM:619598 https://omim.org/entry/616510 http://purl.obolibrary.org/obo/MONDO_0859207 http://identifiers.org/hgnc/12499 OMIM:619639 https://omim.org/entry/603753 http://purl.obolibrary.org/obo/MONDO_0859208 http://identifiers.org/hgnc/14347 OMIM:619641 https://omim.org/entry/607470 http://purl.obolibrary.org/obo/MONDO_0859209 http://identifiers.org/hgnc/30238 OMIM:619648 https://omim.org/entry/611514 @@ -3273,5 +3271,12 @@ http://purl.obolibrary.org/obo/MONDO_0971172 http://identifiers.org/hgnc/10193 O 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_0975705 http://identifiers.org/hgnc/12997 OMIM:620910 https://omim.org/entry/618365 +http://purl.obolibrary.org/obo/MONDO_0975745 http://identifiers.org/hgnc/4669 OMIM:620888 https://omim.org/entry/602245 +http://purl.obolibrary.org/obo/MONDO_0975746 http://identifiers.org/hgnc/18416 OMIM:620911 https://omim.org/entry/620875 +http://purl.obolibrary.org/obo/MONDO_0975747 http://identifiers.org/hgnc/26485 OMIM:620917 https://omim.org/entry/614259 +http://purl.obolibrary.org/obo/MONDO_0975748 http://identifiers.org/hgnc/9772 OMIM:620923 https://omim.org/entry/612906 +http://purl.obolibrary.org/obo/MONDO_0975749 http://identifiers.org/hgnc/3766 OMIM:620926 https://omim.org/entry/600007 +http://purl.obolibrary.org/obo/MONDO_0975761 http://identifiers.org/hgnc/21290 OMIM:620931 https://omim.org/entry/606817 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 4ddf9bdc..0f2e9cc6 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 229769a6..6205c169 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#"> - + @@ -5282,20 +5282,6 @@ - - - - - - - - - - MONDO:NORD - - - - @@ -5374,20 +5360,6 @@ - - - - - - - - - - MONDO:NORD - - - - @@ -13003,13 +12975,6 @@ Mixed Cryoglobulinemia - - - - - MONDO:NORD - NORD:1452 - @@ -13023,6 +12988,13 @@ NORD:1452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL + + + + + MONDO:NORD + NORD:1452 + @@ -53969,6 +53941,27 @@ + + + + Levy-Yeboa Syndrome + + + + + + Levy-Yeboa Syndrome + http://purl.obolibrary.org/obo/mondo#NORD_LABEL + + + + + + MONDO:NORD + + + + @@ -137357,20 +137350,6 @@ - - - - - - - - - - MONDO:NORD - - - - @@ -140507,27 +140486,6 @@ - - - - ADCY5-Related Dyskinesia - - - - - - ADCY5-Related Dyskinesia - http://purl.obolibrary.org/obo/mondo#NORD_LABEL - - - - - - MONDO:NORD - - - - @@ -141572,20 +141530,6 @@ - - - - - - - - - - MONDO:NORD - - - - @@ -142314,20 +142258,6 @@ - - - - - - - - - - MONDO:NORD - - - - @@ -142526,6 +142456,20 @@ + + + + + + + + + + MONDO:NORD + + + + @@ -149928,20 +149872,6 @@ - - - - - - - - - - MONDO:NORD - - - - @@ -150550,6 +150480,27 @@ + + + + RYR1-Related Diseases + + + + + + RYR1-Related Diseases + http://purl.obolibrary.org/obo/mondo#NORD_LABEL + + + + + + MONDO:NORD + + + + @@ -151530,6 +151481,20 @@ + + + + + + + + + + MONDO:NORD + + + + @@ -152908,27 +152873,6 @@ - - - - TRPM3-Related Neurodevelopmental Disorder - - - - - - TRPM3-Related Neurodevelopmental Disorder - http://purl.obolibrary.org/obo/mondo#NORD_LABEL - - - - - - MONDO:NORD - - - - @@ -153040,6 +152984,20 @@ MONDO:NORD + + + + + + + + + + + + + MONDO:NORD + diff --git a/src/ontology/external/nord.robot.tsv b/src/ontology/external/nord.robot.tsv index 4308e6d3..cc073b3d 100644 --- a/src/ontology/external/nord.robot.tsv +++ b/src/ontology/external/nord.robot.tsv @@ -1,11 +1,8 @@ mondo_id report_ref report_ref_source preferred_name preferred_name_source synonym_type subset subset_source subset_source2 ID A oboInOwl:hasDbXref >A oboInOwl:source A oboInOwl:hasExactSynonym >A oboInOwl:hasDbXref >A oboInOwl:hasSynonymType AI oboInOwl:inSubset >A oboInOwl:source >A oboInOwl:source -MONDO:0032889 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0032745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0031115 ADCY5-Related Dyskinesia http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0025956 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0859365 TRPM3-Related Neurodevelopmental Disorder http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0060760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0100150 RYR1-Related Diseases http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011854 Levy-Yeboa Syndrome http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:MONDO:0859214 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:8000024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:8000012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:8000015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -14,74 +11,74 @@ MONDO:8000006 NORD:1849 MONDO:NORD WHIM Syndrome NORD:1849 http://purl.obolibrar MONDO:8000008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0859573 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0859154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850103 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850097 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850100 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850095 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0850089 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0850090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0850095 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0022178 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0022113 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0022037 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0022022 NORD:870 MONDO:NORD NORD:870 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:870 MONDO:NORD +MONDO:0021994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021957 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0021994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021907 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0021804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0021804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021758 NORD:743 MONDO:NORD Agranulocytosis, Acquired NORD:743 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:743 MONDO:NORD MONDO:0021660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -1273,8 +1269,8 @@ MONDO:0021133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0021123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0021083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0021083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021061 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021056 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021055 NORD:1121 MONDO:NORD Familial Adenomatous Polyposis NORD:1121 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1121 MONDO:NORD @@ -1291,18 +1287,18 @@ MONDO:0021020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0021018 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0021013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020989 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020937 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020847 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -1310,14 +1306,14 @@ MONDO:0020793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0020795 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020790 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020783 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020783 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020781 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020770 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020766 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020770 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020765 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020766 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020761 NORD:868 MONDO:NORD Bowen Disease NORD:868 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:868 MONDO:NORD MONDO:0020756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -1330,26 +1326,25 @@ MONDO:0020747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0020740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020721 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020716 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020692 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020693 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020692 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020685 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020682 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020681 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020667 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -1359,45 +1354,45 @@ MONDO:0020657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0020654 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020640 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020631 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020632 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020631 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020628 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020603 NORD:1005 MONDO:NORD Conradi Hünermann Syndrome NORD:1005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1005 MONDO:NORD MONDO:0020602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020386 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020382 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020383 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020380 NORD:825 MONDO:NORD Autosomal Dominant Hereditary Ataxia NORD:825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:825 MONDO:NORD +MONDO:0020376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020369 NORD:918 MONDO:NORD Chandler's Syndrome NORD:918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:918 MONDO:NORD -MONDO:0020370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020366 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020316 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020317 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020310 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020304 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -1573,56 +1568,56 @@ MONDO:0020302 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0020303 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020298 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020290 NORD:821 MONDO:NORD Atrioventricular Septal Defect NORD:821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:821 MONDO:NORD MONDO:0020291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020290 NORD:821 MONDO:NORD Atrioventricular Septal Defect NORD:821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:821 MONDO:NORD -MONDO:0020214 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020213 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020214 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020135 NORD:1596 MONDO:NORD NORD:1596 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1596 MONDO:NORD +MONDO:0020112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020099 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020108 NORD:774 MONDO:NORD Anemia, Hemolytic, Acquired Autoimmune NORD:774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:774 MONDO:NORD MONDO:0020088 NORD:1131 MONDO:NORD NORD:1131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1131 MONDO:NORD -MONDO:0020099 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0020074 NORD:1617 MONDO:NORD NORD:1617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1617 MONDO:NORD MONDO:0020072 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020074 NORD:1617 MONDO:NORD NORD:1617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1617 MONDO:NORD MONDO:0020066 NORD:1080 MONDO:NORD Ehlers Danlos Syndrome NORD:1080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1080 MONDO:NORD MONDO:0020064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020048 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0020007 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019992 NORD:1627 MONDO:NORD NORD:1627 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1627 MONDO:NORD MONDO:0019994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019990 NORD:2024 MONDO:NORD Fibrillary Glomerulonephritis  NORD:2024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2024 MONDO:NORD MONDO:0019991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019985 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019992 NORD:1627 MONDO:NORD NORD:1627 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1627 MONDO:NORD MONDO:0019988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019989 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019985 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019982 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019978 NORD:1673 MONDO:NORD NORD:1673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1673 MONDO:NORD MONDO:0019979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019976 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019972 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019970 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019967 NORD:1332 MONDO:NORD Kienböck Disease NORD:1332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1332 MONDO:NORD -MONDO:0019962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019963 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019959 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019957 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -1636,40 +1631,40 @@ MONDO:0019945 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0019942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019943 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019941 NORD:1235 MONDO:NORD Hereditary Sensory and Autonomic Neuropathy Type II NORD:1235 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1235 MONDO:NORD -MONDO:0019934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019933 NORD:723 MONDO:NORD NORD:723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:723 MONDO:NORD +MONDO:0019934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019928 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019924 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019925 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019916 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019917 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019916 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019911 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019912 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019908 NORD:941 MONDO:NORD Chromosome 15 Ring NORD:941 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:941 MONDO:NORD +MONDO:0019913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019907 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019908 NORD:941 MONDO:NORD Chromosome 15 Ring NORD:941 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:941 MONDO:NORD MONDO:0019905 NORD:962 MONDO:NORD Chromosome 9 Ring NORD:962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:962 MONDO:NORD -MONDO:0019902 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019903 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019900 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019902 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019897 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -1677,90 +1672,90 @@ MONDO:0019895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0019896 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019889 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019886 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019884 NORD:934 MONDO:NORD Chromosome 10, Distal Trisomy 10q NORD:934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:934 MONDO:NORD MONDO:0019885 NORD:937 MONDO:NORD Chromosome 11, Partial Trisomy 11q NORD:937 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:937 MONDO:NORD +MONDO:0019881 NORD:959 MONDO:NORD Chromosome 6, Partial Trisomy 6q NORD:959 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:959 MONDO:NORD MONDO:0019882 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019880 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019881 NORD:959 MONDO:NORD Chromosome 6, Partial Trisomy 6q NORD:959 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:959 MONDO:NORD +MONDO:0019876 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019875 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019876 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019874 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019870 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019875 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019872 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019868 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019355 NORD:737 MONDO:NORD Adult-Onset Still's Disease NORD:737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:737 MONDO:NORD -MONDO:0019353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019354 NORD:1739 MONDO:NORD NORD:1739 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1739 MONDO:NORD -MONDO:0019350 NORD:777 MONDO:NORD NORD:777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:777 MONDO:NORD +MONDO:0019355 NORD:737 MONDO:NORD Adult-Onset Still's Disease NORD:737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:737 MONDO:NORD MONDO:0019351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019327 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019328 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019324 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019326 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019327 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019324 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019323 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019320 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019321 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019318 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019323 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019319 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019320 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019316 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019318 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019314 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019312 NORD:1918 MONDO:NORD Hepatopulmonary Syndrome NORD:1918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1918 MONDO:NORD MONDO:0019311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -2070,148 +2065,148 @@ MONDO:0019306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0019287 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019276 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019265 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019262 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019263 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019260 NORD:1341 MONDO:NORD NORD:1341 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1341 MONDO:NORD MONDO:0019261 NORD:1689 MONDO:NORD Classic Infantile CLN1 Disease NORD:1689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1689 MONDO:NORD +MONDO:0019262 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019258 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019260 NORD:1341 MONDO:NORD NORD:1341 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1341 MONDO:NORD MONDO:0019259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019257 NORD:1315 MONDO:NORD Juvenile Hemochromatosis NORD:1315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1315 MONDO:NORD MONDO:0019255 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019257 NORD:1315 MONDO:NORD Juvenile Hemochromatosis NORD:1315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1315 MONDO:NORD MONDO:0019249 NORD:1461 MONDO:NORD Mucopolysaccharidoses NORD:1461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1461 MONDO:NORD -MONDO:0019234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019233 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019218 NORD:854 MONDO:NORD Bile Acid Synthesis Disorders NORD:854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:854 MONDO:NORD MONDO:0019212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019209 NORD:1088 MONDO:NORD Encephalitis, Japanese NORD:1088 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1088 MONDO:NORD MONDO:0019210 NORD:1947 MONDO:NORD Merkel Cell Carcinoma NORD:1947 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1947 MONDO:NORD -MONDO:0019207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019208 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019209 NORD:1088 MONDO:NORD Encephalitis, Japanese NORD:1088 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1088 MONDO:NORD MONDO:0019205 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019203 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019201 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019202 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019199 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019203 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019200 NORD:1661 MONDO:NORD NORD:1661 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1661 MONDO:NORD -MONDO:0019196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019201 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019199 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019195 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019193 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019190 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019191 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019190 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019187 NORD:1670 MONDO:NORD NORD:1670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1670 MONDO:NORD MONDO:0019188 NORD:1682 MONDO:NORD NORD:1682 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1682 MONDO:NORD MONDO:0019186 NORD:1643 MONDO:NORD NORD:1643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1643 MONDO:NORD -MONDO:0019187 NORD:1670 MONDO:NORD NORD:1670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1670 MONDO:NORD MONDO:0019181 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019180 NORD:1229 MONDO:NORD NORD:1229 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1229 MONDO:NORD MONDO:0019177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019173 NORD:1644 MONDO:NORD NORD:1644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1644 MONDO:NORD -MONDO:0019170 NORD:1588 MONDO:NORD NORD:1588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1588 MONDO:NORD MONDO:0019171 NORD:1675 MONDO:NORD Long QT Syndrome NORD:1675 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1675 MONDO:NORD MONDO:0019168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019169 NORD:1641 MONDO:NORD Pyruvate Dehydrogenase Complex Deficiency NORD:1641 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1641 MONDO:NORD +MONDO:0019170 NORD:1588 MONDO:NORD NORD:1588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1588 MONDO:NORD MONDO:0019167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019162 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019162 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019157 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019158 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019155 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019157 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019155 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019153 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019149 NORD:929 MONDO:NORD NORD:929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:929 MONDO:NORD -MONDO:0019151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019148 NORD:1862 MONDO:NORD NORD:1862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1862 MONDO:NORD +MONDO:0019144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019145 NORD:1899 MONDO:NORD Protein C Deficiency NORD:1899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1899 MONDO:NORD +MONDO:0019142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019140 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019136 NORD:1946 MONDO:NORD Mucormycosis NORD:1946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1946 MONDO:NORD MONDO:0019137 NORD:1511 MONDO:NORD Non-24-Hour Sleep-Wake Disorder NORD:1511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1511 MONDO:NORD MONDO:0019134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019136 NORD:1946 MONDO:NORD Mucormycosis NORD:1946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1946 MONDO:NORD MONDO:0019131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019125 NORD:1655 MONDO:NORD NORD:1655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1655 MONDO:NORD MONDO:0019127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019121 NORD:1923 MONDO:NORD Pneumocystis Pneumonia NORD:1923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1923 MONDO:NORD MONDO:0019122 NORD:728 MONDO:NORD Acute Eosinophilic Pneumonia NORD:728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:728 MONDO:NORD +MONDO:0019123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019120 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019121 NORD:1923 MONDO:NORD Pneumocystis Pneumonia NORD:1923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1923 MONDO:NORD +MONDO:0019115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019113 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019107 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019101 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019098 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019100 NORD:1505 MONDO:NORD Neuromyelitis Optica Spectrum Disorder NORD:1505 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1505 MONDO:NORD +MONDO:0019101 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019098 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019095 NORD:1583 MONDO:NORD NORD:1583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1583 MONDO:NORD +MONDO:0019092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019088 NORD:1950 MONDO:NORD NORD:1950 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1950 MONDO:NORD MONDO:0019091 NORD:874 MONDO:NORD NORD:874 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:874 MONDO:NORD -MONDO:0019092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019087 NORD:926 MONDO:NORD NORD:926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:926 MONDO:NORD -MONDO:0019088 NORD:1950 MONDO:NORD NORD:1950 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1950 MONDO:NORD -MONDO:0019085 NORD:1826 MONDO:NORD Vernal Keratonconjunctivitis NORD:1826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1826 MONDO:NORD MONDO:0019086 Esophageal cancer http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019084 NORD:1615 MONDO:NORD Proctitis NORD:1615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1615 MONDO:NORD +MONDO:0019085 NORD:1826 MONDO:NORD Vernal Keratonconjunctivitis NORD:1826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1826 MONDO:NORD MONDO:0019080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019079 NORD:1729 MONDO:NORD Spinal Muscular Atrophy NORD:1729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1729 MONDO:NORD -MONDO:0019078 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019076 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019077 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019073 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019078 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019074 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019071 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019073 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019067 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019064 NORD:1238 MONDO:NORD NORD:1238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1238 MONDO:NORD MONDO:0019046 NORD:1367 MONDO:NORD NORD:1367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1367 MONDO:NORD -MONDO:0019036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019037 NORD:1619 MONDO:NORD NORD:1619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1619 MONDO:NORD MONDO:0019034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019035 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019029 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019026 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0019023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019024 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019022 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019019 NORD:1535 MONDO:NORD NORD:1535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1535 MONDO:NORD +MONDO:0019016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019018 NORD:2006 MONDO:NORD Takotsubo Cardiomyopathy NORD:2006 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2006 MONDO:NORD MONDO:0019017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0019016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0019012 NORD:897 MONDO:NORD NORD:897 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:897 MONDO:NORD MONDO:0019009 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -2228,15 +2223,15 @@ MONDO:0018996 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0018997 NORD:1513 MONDO:NORD NORD:1513 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1513 MONDO:NORD MONDO:0018994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018995 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018992 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018983 NORD:1774 MONDO:NORD Tolosa Hunt Syndrome NORD:1774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1774 MONDO:NORD +MONDO:0018984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018982 NORD:1509 MONDO:NORD Niemann Pick Disease Type C NORD:1509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1509 MONDO:NORD -MONDO:0018983 NORD:1774 MONDO:NORD Tolosa Hunt Syndrome NORD:1774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1774 MONDO:NORD MONDO:0018979 NORD:1952 MONDO:NORD NORD:1952 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1952 MONDO:NORD MONDO:0018980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018976 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -2244,13 +2239,13 @@ MONDO:0018977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0018978 NORD:1146 MONDO:NORD Fibrosing Mediastinitis NORD:1146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1146 MONDO:NORD MONDO:0018975 NORD:1502 MONDO:NORD Neurofibromatosis 1 NORD:1502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1502 MONDO:NORD MONDO:0018974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018968 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018965 NORD:756 MONDO:NORD NORD:756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:756 MONDO:NORD +MONDO:0018967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018961 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018963 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018957 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018955 NORD:1651 MONDO:NORD NORD:1651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1651 MONDO:NORD @@ -2260,152 +2255,151 @@ MONDO:0018954 NORD:91173 MONDO:NORD NORD:91173 http://purl.obolibrary.org/obo/m MONDO:0018952 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018951 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018950 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018948 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018947 NORD:909 MONDO:NORD NORD:909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:909 MONDO:NORD -MONDO:0018948 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018945 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018945 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018940 NORD:1893 MONDO:NORD Congenital Myasthenic Syndromes NORD:1893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1893 MONDO:NORD MONDO:0018941 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018939 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018938 NORD:1455 MONDO:NORD Mucopolysaccharidosis IV NORD:1455 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1455 MONDO:NORD +MONDO:0018936 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018937 NORD:1463 MONDO:NORD Mucopolysaccharidosis Type III NORD:1463 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1463 MONDO:NORD +MONDO:0018933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018935 NORD:1213 MONDO:NORD NORD:1213 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1213 MONDO:NORD -MONDO:0018936 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018931 NORD:1624 MONDO:NORD Pseudo Hurler Polydystrophy NORD:1624 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1624 MONDO:NORD +MONDO:0018929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018931 NORD:1624 MONDO:NORD Pseudo Hurler Polydystrophy NORD:1624 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1624 MONDO:NORD +MONDO:0018926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018924 NORD:1359 MONDO:NORD Lenz Microphthalmia Syndrome NORD:1359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1359 MONDO:NORD MONDO:0018925 NORD:1979 MONDO:NORD Hemiplegic Migraine NORD:1979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1979 MONDO:NORD -MONDO:0018926 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018924 NORD:1359 MONDO:NORD Lenz Microphthalmia Syndrome NORD:1359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1359 MONDO:NORD MONDO:0018922 NORD:775 MONDO:NORD NORD:775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:775 MONDO:NORD MONDO:0018919 NORD:1413 MONDO:NORD McCune Albright Syndrome NORD:1413 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1413 MONDO:NORD MONDO:0018920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018911 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018908 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018910 NORD:1522 MONDO:NORD NORD:1522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1522 MONDO:NORD -MONDO:0018907 NORD:1996 MONDO:NORD NORD:1996 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1996 MONDO:NORD -MONDO:0018905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018908 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018906 NORD:1983 MONDO:NORD NORD:1983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1983 MONDO:NORD +MONDO:0018907 NORD:1996 MONDO:NORD NORD:1996 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1996 MONDO:NORD MONDO:0018903 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018902 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018900 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018896 NORD:1769 MONDO:NORD NORD:1769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1769 MONDO:NORD MONDO:0018897 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018892 NORD:1863 MONDO:NORD NORD:1863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1863 MONDO:NORD MONDO:0018893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018889 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018884 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018881 NORD:1480 MONDO:NORD Myelodysplastic Syndromes NORD:1480 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1480 MONDO:NORD +MONDO:0018877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018876 NORD:1399 MONDO:NORD NORD:1399 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1399 MONDO:NORD -MONDO:0018877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018875 NORD:1913 MONDO:NORD NORD:1913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1913 MONDO:NORD -MONDO:0018873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018874 NORD:1905 MONDO:NORD NORD:1905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1905 MONDO:NORD +MONDO:0018873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018872 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018869 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018870 NORD:2001 MONDO:NORD Generalized Arterial Calcification of Infancy NORD:2001 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2001 MONDO:NORD -MONDO:0018871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018866 NORD:111728 MONDO:NORD Aicardi-Goutières Syndrome NORD:111728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:111728 MONDO:NORD MONDO:0018868 NORD:1369 MONDO:NORD NORD:1369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1369 MONDO:NORD MONDO:0018865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018866 NORD:111728 MONDO:NORD Aicardi-Goutières Syndrome NORD:111728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:111728 MONDO:NORD +MONDO:0018864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018860 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018861 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018854 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018850 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018847 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018848 NORD:1665 MONDO:NORD Retroperitoneal Fibrosis NORD:1665 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1665 MONDO:NORD -MONDO:0018844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018847 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018840 NORD:1225 MONDO:NORD Congenital Hepatic Fibrosis NORD:1225 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1225 MONDO:NORD -MONDO:0018838 NORD:1374 MONDO:NORD Lissencephaly NORD:1374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1374 MONDO:NORD +MONDO:0018844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018840 NORD:1225 MONDO:NORD Congenital Hepatic Fibrosis NORD:1225 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1225 MONDO:NORD MONDO:0018835 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018838 NORD:1374 MONDO:NORD Lissencephaly NORD:1374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1374 MONDO:NORD MONDO:0018830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018828 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018824 NORD:1638 MONDO:NORD NORD:1638 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1638 MONDO:NORD MONDO:0018825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018826 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018824 NORD:1638 MONDO:NORD NORD:1638 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1638 MONDO:NORD -MONDO:0018820 NORD:1944 MONDO:NORD TANGO2 Deficiency Disorder NORD:1944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1944 MONDO:NORD MONDO:0018822 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018820 NORD:1944 MONDO:NORD TANGO2 Deficiency Disorder NORD:1944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1944 MONDO:NORD MONDO:0018818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018807 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018800 NORD:1319 MONDO:NORD NORD:1319 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1319 MONDO:NORD -MONDO:0018784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018781 NORD:1326 MONDO:NORD Keratitis Ichthyosis Deafness Syndrome NORD:1326 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1326 MONDO:NORD MONDO:0018783 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018778 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018772 NORD:1312 MONDO:NORD NORD:1312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1312 MONDO:NORD MONDO:0018773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018770 NORD:1074 MONDO:NORD Asphyxiating Thoracic Dystrophy NORD:1074 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1074 MONDO:NORD +MONDO:0018772 NORD:1312 MONDO:NORD NORD:1312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1312 MONDO:NORD MONDO:0018768 NORD:1122 MONDO:NORD NORD:1122 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1122 MONDO:NORD MONDO:0018769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018765 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018766 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018762 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018763 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018761 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018762 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018752 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018754 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018752 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -2415,120 +2409,119 @@ MONDO:0018741 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0018739 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018166 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018163 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018152 NORD:933 MONDO:NORD Choroiditis, Serpiginous NORD:933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:933 MONDO:NORD MONDO:0018153 NORD:1102 MONDO:NORD Erdheim Chester Disease NORD:1102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1102 MONDO:NORD -MONDO:0018149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018152 NORD:933 MONDO:NORD Choroiditis, Serpiginous NORD:933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:933 MONDO:NORD MONDO:0018150 NORD:1177 MONDO:NORD NORD:1177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1177 MONDO:NORD MONDO:0018148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018145 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018129 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018126 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -2796,58 +2789,58 @@ MONDO:0018128 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0018124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018125 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018116 NORD:1170 MONDO:NORD NORD:1170 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1170 MONDO:NORD +MONDO:0018106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018103 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018102 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018097 NORD:1848 MONDO:NORD NORD:1848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1848 MONDO:NORD MONDO:0018095 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018096 NORD:1842 MONDO:NORD Weill Marchesani Syndrome NORD:1842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1842 MONDO:NORD -MONDO:0018094 NORD:1832 MONDO:NORD NORD:1832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1832 MONDO:NORD -MONDO:0018092 NORD:1829 MONDO:NORD NORD:1829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1829 MONDO:NORD MONDO:0018093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018094 NORD:1832 MONDO:NORD NORD:1832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1832 MONDO:NORD MONDO:0018090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018092 NORD:1829 MONDO:NORD NORD:1829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1829 MONDO:NORD MONDO:0018088 NORD:1130 MONDO:NORD Fiebre mediterránea familiar NORD:1130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1130 MONDO:NORD MONDO:0018089 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018085 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018087 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018084 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018085 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018081 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018078 NORD:1953 MONDO:NORD NORD:1953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1953 MONDO:NORD MONDO:0018079 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0018076 NORD:1801 MONDO:NORD NORD:1801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1801 MONDO:NORD MONDO:0018077 NORD:1803 MONDO:NORD NORD:1803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1803 MONDO:NORD +MONDO:0018076 NORD:1801 MONDO:NORD NORD:1801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1801 MONDO:NORD MONDO:0018072 NORD:1800 MONDO:NORD Truncus Arteriosus NORD:1800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1800 MONDO:NORD +MONDO:0018069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0018071 NORD:1797 MONDO:NORD NORD:1797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1797 MONDO:NORD -MONDO:0018067 NORD:1794 MONDO:NORD NORD:1794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1794 MONDO:NORD MONDO:0018068 NORD:1796 MONDO:NORD Trisomy 13 Syndrome NORD:1796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1796 MONDO:NORD 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017853 NORD:761 MONDO:NORD NORD:761 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:761 MONDO:NORD MONDO:0017855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017853 NORD:761 MONDO:NORD NORD:761 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:761 MONDO:NORD -MONDO:0017851 NORD:1285 MONDO:NORD Ichthyosis, Erythrokeratodermia Variabilis NORD:1285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1285 MONDO:NORD MONDO:0017850 NORD:1720 MONDO:NORD NORD:1720 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1720 MONDO:NORD +MONDO:0017851 NORD:1285 MONDO:NORD Ichthyosis, Erythrokeratodermia Variabilis NORD:1285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1285 MONDO:NORD MONDO:0017844 NORD:1707 MONDO:NORD Sheehan Syndrome NORD:1707 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1707 MONDO:NORD MONDO:0017842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017840 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017836 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017834 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017835 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017812 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017807 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017812 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017808 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017809 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017807 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017795 NORD:764 MONDO:NORD NORD:764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:764 MONDO:NORD MONDO:0017798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017799 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -3021,69 +3014,69 @@ MONDO:0017793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0017790 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017783 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017781 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017776 NORD:1510 MONDO:NORD NORD:1510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1510 MONDO:NORD MONDO:0017778 NORD:1289 MONDO:NORD NORD:1289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1289 MONDO:NORD MONDO:0017779 NORD:1693 MONDO:NORD Schindler disease NORD:1693 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1693 MONDO:NORD -MONDO:0017775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017776 NORD:1510 MONDO:NORD NORD:1510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1510 MONDO:NORD MONDO:0017774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017771 NORD:1412 MONDO:NORD Mayer-Rokitansky-Küster-Hauser Syndrome NORD:1412 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1412 MONDO:NORD MONDO:0017767 NORD:1668 MONDO:NORD NORD:1668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1668 MONDO:NORD MONDO:0017746 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017734 NORD:1713 MONDO:NORD NORD:1713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1713 MONDO:NORD +MONDO:0017735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017732 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017734 NORD:1713 MONDO:NORD NORD:1713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1713 MONDO:NORD +MONDO:0017729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0017729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017727 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0017723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0017724 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MONDO:0015379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015375 NORD:1529 MONDO:NORD Oral-Facial-Digital Syndrome NORD:1529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1529 MONDO:NORD MONDO:0015376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015352 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015350 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015347 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015348 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015344 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015345 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015346 NORD:152960 MONDO:NORD Epilepsy with Eyelid Myoclonia NORD:152960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:152960 MONDO:NORD -MONDO:0015340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015341 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015342 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015344 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015314 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -4372,66 +4365,66 @@ MONDO:0015300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0015301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015298 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015299 NORD:811 MONDO:NORD Asherman's Syndrome NORD:811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:811 MONDO:NORD +MONDO:0015295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015294 NORD:1498 MONDO:NORD NORD:1498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1498 MONDO:NORD -MONDO:0015295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015290 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NORD:1421 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1421 MONDO:NORD MONDO:0015269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015265 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015263 NORD:878 MONDO:NORD NORD:878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:878 MONDO:NORD +MONDO:0015267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015264 NORD:873 MONDO:NORD Organizing Pneumonia NORD:873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:873 MONDO:NORD -MONDO:0015261 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015262 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015263 NORD:878 MONDO:NORD NORD:878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:878 MONDO:NORD MONDO:0015260 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015261 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015254 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015253 NORD:773 MONDO:NORD Diamond Blackfan Anemia NORD:773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:773 MONDO:NORD +MONDO:0015259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015252 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015249 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015253 NORD:773 MONDO:NORD Diamond Blackfan Anemia NORD:773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:773 MONDO:NORD MONDO:0015248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0015243 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015249 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015237 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0015232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015231 NORD:842 MONDO:NORD NORD:842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:842 MONDO:NORD -MONDO:0015232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015229 NORD:838 MONDO:NORD NORD:838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:838 MONDO:NORD MONDO:0015228 NORD:1565 MONDO:NORD Penta X Syndrome NORD:1565 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Atonic Epilepsy NORD:2035 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2035 MONDO:NORD +MONDO:0014634 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014635 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014632 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014629 NORD:1973 MONDO:NORD COPA Syndrome NORD:1973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1973 MONDO:NORD +MONDO:0014625 NORD:111336 MONDO:NORD EEF1A2-Related Neurodevelopmental Disorder NORD:111336 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:111336 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014569 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014567 NORD:91168 MONDO:NORD GPT2 Deficiency NORD:91168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:91168 MONDO:NORD MONDO:0014568 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014536 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014532 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014530 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -4895,90 +4888,90 @@ MONDO:0014514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0014515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014507 NORD:901 MONDO:NORD Catel Manzke Syndrome NORD:901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:901 MONDO:NORD +MONDO:0014511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014508 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014505 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014506 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014507 NORD:901 MONDO:NORD Catel Manzke Syndrome NORD:901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:901 MONDO:NORD MONDO:0014504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014505 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014501 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014499 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014500 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014497 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014498 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014499 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014497 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014490 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014487 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014483 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014481 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014482 NORD:1958 MONDO:NORD SETBP1 Haploinsufficiency Disorder NORD:1958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1958 MONDO:NORD MONDO:0014479 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014480 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014476 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014477 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014475 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014476 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014472 NORD:1939 MONDO:NORD Autoinflammation with Infantile Enterocolitis NORD:1939 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1939 MONDO:NORD -MONDO:0014469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014468 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014460 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014457 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014458 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014455 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014456 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014457 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014454 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014450 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014447 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014449 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014446 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014442 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014443 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014439 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014440 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014441 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014442 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014438 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014439 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014436 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014438 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014434 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014435 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014436 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014433 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014430 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014431 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014427 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014428 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014419 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014420 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014416 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014417 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014413 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -4987,42 +4980,42 @@ MONDO:0014410 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0014412 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -6805,66 +6795,66 @@ MONDO:0011681 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0011676 NORD:1927 MONDO:NORD NORD:1927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1927 MONDO:NORD MONDO:0011678 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011675 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011674 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011671 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011672 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011669 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011669 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011667 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011663 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011664 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011653 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011655 NORD:760 MONDO:NORD NORD:760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:760 MONDO:NORD +MONDO:0011653 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD 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MONDO:NORD MONDO:0011625 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011628 NORD:714 MONDO:NORD NORD:714 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:714 MONDO:NORD MONDO:0011621 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011624 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011616 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011614 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011612 NORD:1512 MONDO:NORD Nonketotic Hyperglycinemia NORD:1512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1512 MONDO:NORD MONDO:0011610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011604 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011603 NORD:2011 MONDO:NORD NORD:2011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2011 MONDO:NORD -MONDO:0011600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011599 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011593 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011592 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011593 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011589 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011587 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011582 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011581 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011578 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011576 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011575 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011576 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011568 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011569 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -6872,39 +6862,39 @@ MONDO:0011567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0011563 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011553 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011553 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011551 NORD:1810 MONDO:NORD Tyrosine Hydroxylase Deficiency NORD:1810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1810 MONDO:NORD +MONDO:0011545 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011545 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011540 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0011537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011534 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0011533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011532 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0011530 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1566 MONDO:NORD MONDO:0010737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010731 NORD:1717 MONDO:NORD NORD:1717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1717 MONDO:NORD MONDO:0010729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010726 NORD:1666 MONDO:NORD NORD:1666 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1666 MONDO:NORD +MONDO:0010722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010723 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010725 NORD:1864 MONDO:NORD NORD:1864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1864 MONDO:NORD -MONDO:0010722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010720 NORD:771 MONDO:NORD NORD:771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:771 MONDO:NORD MONDO:0010717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010716 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010714 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010703 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7376,8 +7366,8 @@ MONDO:0010698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0010691 NORD:1514 MONDO:NORD NORD:1514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1514 MONDO:NORD MONDO:0010690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010684 NORD:1866 MONDO:NORD NORD:1866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1866 MONDO:NORD MONDO:0010686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010684 NORD:1866 MONDO:NORD NORD:1866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1866 MONDO:NORD MONDO:0010683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010679 NORD:1065 MONDO:NORD NORD:1065 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1065 MONDO:NORD MONDO:0010680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7390,91 +7380,91 @@ MONDO:0010665 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0010664 NORD:1890 MONDO:NORD Snyder-Robinson Syndrome NORD:1890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1890 MONDO:NORD MONDO:0010662 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010651 NORD:1440 MONDO:NORD NORD:1440 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1440 MONDO:NORD MONDO:0010650 NORD:1430 MONDO:NORD Melnick Needles Syndrome NORD:1430 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1430 MONDO:NORD -MONDO:0010649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010651 NORD:1440 MONDO:NORD NORD:1440 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1440 MONDO:NORD MONDO:0010646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010645 NORD:1379 MONDO:NORD Lowe syndrome NORD:1379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1379 MONDO:NORD MONDO:0010641 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010637 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010631 NORD:1300 MONDO:NORD NORD:1300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1300 MONDO:NORD MONDO:0010632 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010631 NORD:1300 MONDO:NORD NORD:1300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1300 MONDO:NORD MONDO:0010627 NORD:1865 MONDO:NORD X linked Lymphoproliferative Syndrome NORD:1865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1865 MONDO:NORD MONDO:0010626 NORD:1261 MONDO:NORD Hyper IgM Syndromes NORD:1261 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1261 MONDO:NORD MONDO:0010622 NORD:1293 MONDO:NORD Ichthyosis, X Linked NORD:1293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1293 MONDO:NORD -MONDO:0010621 NORD:1284 MONDO:NORD Ichthyosis, CHILD Syndrome NORD:1284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1284 MONDO:NORD MONDO:0010620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010621 NORD:1284 MONDO:NORD Ichthyosis, CHILD Syndrome NORD:1284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1284 MONDO:NORD MONDO:0010619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010614 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010614 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010604 NORD:1222 MONDO:NORD NORD:1222 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1222 MONDO:NORD MONDO:0010603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010602 NORD:1221 MONDO:NORD NORD:1221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1221 MONDO:NORD MONDO:0010600 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010602 NORD:1221 MONDO:NORD NORD:1221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1221 MONDO:NORD MONDO:0010596 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010592 NORD:1152 MONDO:NORD NORD:1152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1152 MONDO:NORD MONDO:0010595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010592 NORD:1152 MONDO:NORD NORD:1152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1152 MONDO:NORD MONDO:0010590 NORD:1142 MONDO:NORD FG Syndrome Type 1 NORD:1142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1142 MONDO:NORD -MONDO:0010588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010589 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010581 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010578 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010577 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010575 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010576 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010575 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010574 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010571 NORD:1539 MONDO:NORD Otopalatodigital Syndrome Type I and II NORD:1539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1539 MONDO:NORD MONDO:0010572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010569 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010570 NORD:1012 MONDO:NORD Craniofrontonasal Dysplasia NORD:1012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1012 MONDO:NORD -MONDO:0010571 NORD:1539 MONDO:NORD Otopalatodigital Syndrome Type I and II NORD:1539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1539 MONDO:NORD +MONDO:0010567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010568 NORD:745 MONDO:NORD NORD:745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:745 MONDO:NORD -MONDO:0010569 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010563 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010561 NORD:983 MONDO:NORD Coffin Lowry Syndrome NORD:983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:983 MONDO:NORD +MONDO:0010562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010557 NORD:932 MONDO:NORD NORD:932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:932 MONDO:NORD MONDO:0010555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010550 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010548 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010545 NORD:1489 MONDO:NORD NORD:1489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1489 MONDO:NORD MONDO:0010544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010542 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010545 NORD:1489 MONDO:NORD NORD:1489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1489 MONDO:NORD MONDO:0010543 NORD:840 MONDO:NORD NORD:840 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:840 MONDO:NORD -MONDO:0010540 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010542 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010540 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010538 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010537 NORD:866 MONDO:NORD Börjeson-Forssman-Lehman Syndrome NORD:866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:866 MONDO:NORD -MONDO:0010535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010534 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010532 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7483,47 +7473,47 @@ MONDO:0010523 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0010524 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010519 NORD:753 MONDO:NORD Alpha Thalassemia X-linked Intellectual Disability Syndrome NORD:753 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:753 MONDO:NORD +MONDO:0010516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010517 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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MONDO:0010463 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010462 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010460 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010457 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010458 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010456 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NORD:1845 MONDO:NORD NORD:1845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1845 MONDO:NORD MONDO:0010197 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010200 NORD:1856 MONDO:NORD NORD:1856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1856 MONDO:NORD MONDO:0010194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010196 NORD:1845 MONDO:NORD NORD:1845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1845 MONDO:NORD -MONDO:0010193 NORD:1839 MONDO:NORD NORD:1839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1839 MONDO:NORD MONDO:0010192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010185 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010184 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010181 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010183 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010180 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010181 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010178 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010179 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010176 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010170 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010169 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7748,19 +7738,19 @@ MONDO:0010160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0010159 NORD:1805 MONDO:NORD Turcot Syndrome NORD:1805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1805 MONDO:NORD MONDO:0010155 NORD:1283 MONDO:NORD Chanarin-Dorfman Syndrome NORD:1283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1283 MONDO:NORD MONDO:0010156 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010150 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010150 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010146 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010140 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010134 NORD:2030 MONDO:NORD NORD:2030 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2030 MONDO:NORD +MONDO:0010135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010132 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7770,35 +7760,35 @@ MONDO:0010121 NORD:1768 MONDO:NORD Thrombocytopenia Absent Radius Syndrome NORD: MONDO:0010122 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010120 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010117 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7812,81 +7802,81 @@ MONDO:0010047 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0010046 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010039 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010041 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010038 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010035 NORD:1724 MONDO:NORD NORD:1724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1724 MONDO:NORD +MONDO:0010039 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010035 NORD:1724 MONDO:NORD NORD:1724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1724 MONDO:NORD MONDO:0010031 NORD:1377 MONDO:NORD Senior-Løken Syndrome NORD:1377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010014 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010013 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010014 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0010012 NORD:824 MONDO:NORD Autoimmune Polyendocrine Syndrome Type II NORD:824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:824 MONDO:NORD -MONDO:0010010 NORD:1694 MONDO:NORD Schinzel Giedion Syndrome NORD:1694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1694 MONDO:NORD MONDO:0010011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010012 NORD:824 MONDO:NORD Autoimmune Polyendocrine Syndrome Type II NORD:824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:824 MONDO:NORD MONDO:0010008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0010010 NORD:1694 MONDO:NORD Schinzel Giedion Syndrome NORD:1694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1694 MONDO:NORD MONDO:0010007 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0010006 NORD:1688 MONDO:NORD NORD:1688 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1688 MONDO:NORD MONDO:0010002 NORD:1678 MONDO:NORD NORD:1678 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1678 MONDO:NORD MONDO:0010004 NORD:1079 MONDO:NORD Ectrodactyly Ectodermal Dysplasia Cleft Lip/Palate NORD:1079 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1079 MONDO:NORD MONDO:0009999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009996 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009996 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009990 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009985 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009978 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009983 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009978 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009963 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009959 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009955 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009958 NORD:1654 MONDO:NORD Refsum Disease NORD:1654 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1654 MONDO:NORD MONDO:0009954 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009952 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009950 NORD:1642 MONDO:NORD Pyruvate Kinase Deficiency NORD:1642 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1642 MONDO:NORD -MONDO:0009948 NORD:1276 MONDO:NORD Hypophosphatasia NORD:1276 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1276 MONDO:NORD MONDO:0009949 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009948 NORD:1276 MONDO:NORD Hypophosphatasia NORD:1276 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1276 MONDO:NORD MONDO:0009947 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009945 NORD:1639 MONDO:NORD NORD:1639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1639 MONDO:NORD -MONDO:0009942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009946 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009943 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009945 NORD:1639 MONDO:NORD NORD:1639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1639 MONDO:NORD MONDO:0009940 NORD:1637 MONDO:NORD NORD:1637 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1637 MONDO:NORD -MONDO:0009935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009936 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009937 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009934 NORD:759 MONDO:NORD NORD:759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:759 MONDO:NORD -MONDO:0009931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009933 NORD:1054 MONDO:NORD Diffuse Pulmonary Lymphangiomatosis NORD:1054 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1054 MONDO:NORD +MONDO:0009934 NORD:759 MONDO:NORD NORD:759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:759 MONDO:NORD MONDO:0009928 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009925 NORD:1629 MONDO:NORD Pseudoxanthoma Elasticum NORD:1629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1629 MONDO:NORD @@ -7896,14 +7886,13 @@ MONDO:0009921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009917 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009916 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009910 NORD:1852 MONDO:NORD Wiedemann Rautenstrauch Syndrome NORD:1852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1852 MONDO:NORD MONDO:0009914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009904 NORD:1884 MONDO:NORD NORD:1884 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1884 MONDO:NORD MONDO:0009905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009903 NORD:1448 MONDO:NORD Miller Syndrome NORD:1448 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1448 MONDO:NORD +MONDO:0009904 NORD:1884 MONDO:NORD NORD:1884 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1884 MONDO:NORD MONDO:0009902 NORD:1599 MONDO:NORD Congenital Erythropoietic Porphyria NORD:1599 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1599 MONDO:NORD MONDO:0009900 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7911,22 +7900,22 @@ MONDO:0009895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009897 NORD:1591 MONDO:NORD NORD:1591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1591 MONDO:NORD MONDO:0009893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009894 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009889 NORD:831 MONDO:NORD NORD:831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:831 MONDO:NORD +MONDO:0009890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009880 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009879 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009877 NORD:1209 MONDO:NORD Growth Hormone Insensitivity NORD:1209 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1209 MONDO:NORD MONDO:0009876 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009874 NORD:1645 MONDO:NORD NORD:1645 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1645 MONDO:NORD MONDO:0009872 NORD:859 MONDO:NORD Björnstad Syndrome NORD:859 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:859 MONDO:NORD -MONDO:0009870 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009870 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009869 NORD:1579 MONDO:NORD Pierre Robin Sequence NORD:1579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1579 MONDO:NORD MONDO:0009868 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009867 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7935,26 +7924,26 @@ MONDO:0009865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009861 NORD:1574 MONDO:NORD NORD:1574 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1574 MONDO:NORD MONDO:0009862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009855 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009849 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009835 NORD:1743 MONDO:NORD NORD:1743 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1743 MONDO:NORD MONDO:0009837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009833 NORD:1711 MONDO:NORD Shwachman Diamond Syndrome NORD:1711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1711 MONDO:NORD +MONDO:0009835 NORD:1743 MONDO:NORD NORD:1743 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1743 MONDO:NORD MONDO:0009832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009833 NORD:1711 MONDO:NORD Shwachman Diamond Syndrome NORD:1711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1711 MONDO:NORD MONDO:0009824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009822 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -7966,46 +7955,46 @@ MONDO:0009815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009809 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009797 NORD:1942 MONDO:NORD Hereditary Orotic Aciduria NORD:1942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1942 MONDO:NORD MONDO:0009795 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009781 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009779 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009775 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009773 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009772 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009770 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009767 NORD:1520 MONDO:NORD Oculocerebral Syndrome with Hypopigmentation NORD:1520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1520 MONDO:NORD MONDO:0009768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009767 NORD:1520 MONDO:NORD Oculocerebral Syndrome with Hypopigmentation NORD:1520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1520 MONDO:NORD MONDO:0009764 NORD:1517 MONDO:NORD NORD:1517 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1517 MONDO:NORD -MONDO:0009760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009751 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009751 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009746 NORD:1236 MONDO:NORD Hereditary Sensory and Autonomic Neuropathy Type IV NORD:1236 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1236 MONDO:NORD MONDO:0009745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009735 NORD:1290 MONDO:NORD Ichthyosis, Netherton Syndrome NORD:1290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1290 MONDO:NORD @@ -8025,13 +8014,13 @@ MONDO:0009710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009705 NORD:894 MONDO:NORD Carnitine Palmitoyltransferase 1A Deficiency NORD:894 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:894 MONDO:NORD MONDO:0009704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009699 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009696 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009699 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009697 NORD:143373 MONDO:NORD NORD:143373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:143373 MONDO:NORD +MONDO:0009696 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009693 NORD:1469 MONDO:NORD Multiple Myeloma NORD:1469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1469 MONDO:NORD MONDO:0009692 NORD:1611 MONDO:NORD NORD:1611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1611 MONDO:NORD +MONDO:0009693 NORD:1469 MONDO:NORD Multiple Myeloma NORD:1469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1469 MONDO:NORD MONDO:0009691 NORD:1479 MONDO:NORD NORD:1479 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1479 MONDO:NORD MONDO:0009690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8041,8 +8030,8 @@ MONDO:0009683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009678 NORD:1169 MONDO:NORD Fukuyama Type Congenital Muscular Dystrophy NORD:1169 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1169 MONDO:NORD MONDO:0009677 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009675 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009672 NORD:1342 MONDO:NORD Kugelberg Welander Syndrome NORD:1342 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1342 MONDO:NORD MONDO:0009670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8050,11 +8039,11 @@ MONDO:0009668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009669 NORD:1844 MONDO:NORD Werdnig-Hoffmann Disease NORD:1844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1844 MONDO:NORD MONDO:0009666 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009667 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009665 NORD:857 MONDO:NORD NORD:857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:857 MONDO:NORD MONDO:0009664 NORD:1465 MONDO:NORD NORD:1465 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1465 MONDO:NORD +MONDO:0009665 NORD:857 MONDO:NORD NORD:857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:857 MONDO:NORD MONDO:0009662 NORD:1722 MONDO:NORD Mucopolysaccharidosis Type VII NORD:1722 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1722 MONDO:NORD -MONDO:0009661 NORD:1405 MONDO:NORD Maroteaux Lamy Syndrome NORD:1405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1405 MONDO:NORD MONDO:0009660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009661 NORD:1405 MONDO:NORD Maroteaux Lamy Syndrome NORD:1405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1405 MONDO:NORD MONDO:0009659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8062,23 +8051,23 @@ MONDO:0009657 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009653 NORD:1460 MONDO:NORD Mucolipidosis IV NORD:1460 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1460 MONDO:NORD MONDO:0009652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009649 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009650 NORD:1279 MONDO:NORD I Cell Disease NORD:1279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1279 MONDO:NORD MONDO:0009647 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009643 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009642 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009635 NORD:1446 MONDO:NORD NORD:1446 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1446 MONDO:NORD +MONDO:0009629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009627 NORD:1171 MONDO:NORD NORD:1171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1171 MONDO:NORD -MONDO:0009629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009626 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009624 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009623 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009623 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8086,131 +8075,131 @@ MONDO:0009618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009614 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009613 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009611 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009606 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009604 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009599 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009595 NORD:1414 MONDO:NORD McKusick Type Metaphyseal Chondrodysplasia NORD:1414 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1414 MONDO:NORD MONDO:0009597 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009598 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009593 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009595 NORD:1414 MONDO:NORD McKusick Type Metaphyseal Chondrodysplasia NORD:1414 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1414 MONDO:NORD MONDO:0009592 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009593 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009590 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009591 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009584 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009582 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009578 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009579 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009580 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009577 NORD:1424 MONDO:NORD Megalocornea Intellectual Disability Syndrome NORD:1424 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1424 MONDO:NORD +MONDO:0009578 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009575 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009569 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009568 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009567 NORD:1406 MONDO:NORD Marshall Smith Syndrome NORD:1406 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1406 MONDO:NORD +MONDO:0009568 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009564 NORD:1402 MONDO:NORD Marden Walker Syndrome NORD:1402 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1402 MONDO:NORD MONDO:0009562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009563 NORD:1400 MONDO:NORD NORD:1400 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1400 MONDO:NORD MONDO:0009561 NORD:755 MONDO:NORD NORD:755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:755 MONDO:NORD -MONDO:0009558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009557 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009552 NORD:1428 MONDO:NORD Meleda Disease NORD:1428 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1428 MONDO:NORD MONDO:0009554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009552 NORD:1428 MONDO:NORD Meleda Disease NORD:1428 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1428 MONDO:NORD +MONDO:0009549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009550 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009548 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009540 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009544 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009530 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009532 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009526 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009524 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009517 NORD:1361 MONDO:NORD Leprechaunism NORD:1361 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1361 MONDO:NORD MONDO:0009515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009514 NORD:1932 MONDO:NORD NORD:1932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1932 MONDO:NORD MONDO:0009513 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009514 NORD:1932 MONDO:NORD NORD:1932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1932 MONDO:NORD MONDO:0009511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009506 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009501 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009499 NORD:1368 MONDO:NORD Leukodystrophy, Krabbe's NORD:1368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1368 MONDO:NORD -MONDO:0009495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009491 NORD:1212 MONDO:NORD NORD:1212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1212 MONDO:NORD +MONDO:0009495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009490 NORD:1552 MONDO:NORD Papillon Lefèvre Syndrome NORD:1552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1552 MONDO:NORD +MONDO:0009491 NORD:1212 MONDO:NORD NORD:1212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1212 MONDO:NORD MONDO:0009486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009489 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009483 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009479 NORD:1311 MONDO:NORD NORD:1311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1311 MONDO:NORD MONDO:0009480 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009479 NORD:1311 MONDO:NORD NORD:1311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1311 MONDO:NORD MONDO:0009477 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009475 NORD:712 MONDO:NORD NORD:712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:712 MONDO:NORD MONDO:0009476 NORD:1309 MONDO:NORD Jejunal Atresia NORD:1309 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1309 MONDO:NORD MONDO:0009471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009475 NORD:712 MONDO:NORD NORD:712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:712 MONDO:NORD MONDO:0009470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009468 NORD:1294 MONDO:NORD Idiopathic Intracranial Hypertension NORD:1294 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1294 MONDO:NORD MONDO:0009469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009465 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009468 NORD:1294 MONDO:NORD Idiopathic Intracranial Hypertension NORD:1294 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1294 MONDO:NORD +MONDO:0009459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009461 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009458 NORD:1691 MONDO:NORD NORD:1691 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1691 MONDO:NORD -MONDO:0009459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009454 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009448 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009443 NORD:1287 MONDO:NORD Harlequin Ichthyosis NORD:1287 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1287 MONDO:NORD +MONDO:0009440 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009441 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009439 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009440 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009431 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009433 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009430 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009425 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009431 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009426 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009420 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009424 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009425 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009419 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009420 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009416 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009413 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009406 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009411 NORD:798 MONDO:NORD Autoimmune Polyglandular Syndrome Type 1 NORD:798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:798 MONDO:NORD MONDO:0009404 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009405 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009402 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009402 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009398 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8222,29 +8211,29 @@ MONDO:0009383 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009380 NORD:1063 MONDO:NORD Dubin Johnson Syndrome NORD:1063 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1063 MONDO:NORD MONDO:0009378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009371 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009370 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009367 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009361 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009361 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009354 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009352 NORD:1249 MONDO:NORD Homocystinuria due to Cystathionine Beta-Synthase Deficiency NORD:1249 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1249 MONDO:NORD +MONDO:0009353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009348 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009345 NORD:1245 MONDO:NORD NORD:1245 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1245 MONDO:NORD -MONDO:0009340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009341 NORD:1456 MONDO:NORD NORD:1456 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1456 MONDO:NORD +MONDO:0009340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8259,16 +8248,16 @@ MONDO:0009319 NORD:1550 MONDO:NORD NORD:1550 http://purl.obolibrary.org/obo/mon MONDO:0009318 NORD:1888 MONDO:NORD NORD:1888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1888 MONDO:NORD MONDO:0009313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009315 NORD:1119 MONDO:NORD Factor XII Deficiency NORD:1119 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1119 MONDO:NORD +MONDO:0009310 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009309 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009310 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009302 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009303 NORD:1198 MONDO:NORD Goodpasture Syndrome NORD:1198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1198 MONDO:NORD +MONDO:0009300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009302 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009299 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009297 NORD:1658 MONDO:NORD Renal Glycosuria NORD:1658 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1658 MONDO:NORD MONDO:0009295 NORD:1196 MONDO:NORD Glycogen Storage Disease Type 7 NORD:1196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1196 MONDO:NORD MONDO:0009294 NORD:1241 MONDO:NORD Glycogen Storage Disease Type VI NORD:1241 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1241 MONDO:NORD @@ -8277,15 +8266,15 @@ MONDO:0009292 NORD:770 MONDO:NORD Andersen Disease (GSD IV) NORD:770 http://purl MONDO:0009290 NORD:1595 MONDO:NORD Pompe Disease NORD:1595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1595 MONDO:NORD MONDO:0009288 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009287 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009285 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009282 NORD:1192 MONDO:NORD Glutaric Aciduria Type II NORD:1192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1192 MONDO:NORD MONDO:0009281 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009275 NORD:1494 MONDO:NORD NORD:1494 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1494 MONDO:NORD MONDO:0009276 NORD:851 MONDO:NORD NORD:851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:851 MONDO:NORD MONDO:0009274 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009275 NORD:1494 MONDO:NORD NORD:1494 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1494 MONDO:NORD MONDO:0009271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009270 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8305,20 +8294,20 @@ MONDO:0009254 NORD:1168 MONDO:NORD NORD:1168 http://purl.obolibrary.org/obo/mon MONDO:0009255 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009253 NORD:1167 MONDO:NORD NORD:1167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1167 MONDO:NORD MONDO:0009252 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009249 NORD:1166 MONDO:NORD Fructose Intolerance, Hereditary NORD:1166 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1166 MONDO:NORD MONDO:0009247 NORD:1164 MONDO:NORD NORD:1164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1164 MONDO:NORD -MONDO:0009241 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009249 NORD:1166 MONDO:NORD Fructose Intolerance, Hereditary NORD:1166 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1166 MONDO:NORD MONDO:0009242 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009241 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009240 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009239 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009235 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009236 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009234 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009231 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009229 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009226 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009227 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009224 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8326,24 +8315,24 @@ MONDO:0009223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009222 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009216 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009214 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009216 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009213 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009214 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009209 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009209 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009205 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009203 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009197 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009196 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009197 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009191 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009192 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009189 NORD:1881 MONDO:NORD Recessive Multiple Epiphyseal Dysplasia NORD:1881 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1881 MONDO:NORD MONDO:0009185 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009183 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8363,29 +8352,29 @@ MONDO:0009166 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009162 NORD:1083 MONDO:NORD Ellis Van Creveld Syndrome NORD:1083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1083 MONDO:NORD MONDO:0009165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009161 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009157 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009155 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009150 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009148 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009149 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009147 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009144 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009145 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009140 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009141 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009138 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009139 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009131 NORD:1069 MONDO:NORD Dysautonomia, Familial NORD:1069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1069 MONDO:NORD +MONDO:0009133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009130 NORD:1068 MONDO:NORD Dyggve Melchior Clausen syndrome NORD:1068 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1068 MONDO:NORD +MONDO:0009131 NORD:1069 MONDO:NORD Dysautonomia, Familial NORD:1069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1069 MONDO:NORD MONDO:0009124 NORD:1064 MONDO:NORD NORD:1064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1064 MONDO:NORD MONDO:0009126 NORD:1066 MONDO:NORD Duodenal Atresia or Stenosis NORD:1066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1066 MONDO:NORD MONDO:0009121 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8394,69 +8383,69 @@ MONDO:0009115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0009120 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009114 NORD:1056 MONDO:NORD NORD:1056 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1056 MONDO:NORD MONDO:0009113 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009107 NORD:1051 MONDO:NORD NORD:1051 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1051 MONDO:NORD -MONDO:0009108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009106 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009097 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009099 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009097 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009091 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009090 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009079 NORD:1058 MONDO:NORD NORD:1058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1058 MONDO:NORD MONDO:0009080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009076 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009079 NORD:1058 MONDO:NORD NORD:1058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1058 MONDO:NORD MONDO:0009075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009072 NORD:1032 MONDO:NORD Dandy Walker Malformation NORD:1032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1032 MONDO:NORD +MONDO:0009076 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009073 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009071 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009072 NORD:1032 MONDO:NORD Dandy Walker Malformation NORD:1032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1032 MONDO:NORD MONDO:0009069 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009067 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009068 NORD:1030 MONDO:NORD Cytochrome C Oxidase Deficiency NORD:1030 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1030 MONDO:NORD MONDO:0009066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009067 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009063 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009061 NORD:1026 MONDO:NORD NORD:1026 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1026 MONDO:NORD -MONDO:0009054 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009055 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009053 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009054 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009052 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009049 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009050 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009046 NORD:1160 MONDO:NORD NORD:1160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1160 MONDO:NORD -MONDO:0009044 NORD:1016 MONDO:NORD Crigler Najjar Syndrome NORD:1016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1016 MONDO:NORD -MONDO:0009042 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009044 NORD:1016 MONDO:NORD Crigler Najjar Syndrome NORD:1016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1016 MONDO:NORD MONDO:0009039 NORD:834 MONDO:NORD NORD:834 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:834 MONDO:NORD -MONDO:0009034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009042 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009035 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009036 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009033 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009028 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009026 NORD:1011 MONDO:NORD NORD:1011 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1011 MONDO:NORD -MONDO:0009025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009021 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009025 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009019 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009016 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009010 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0009008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009009 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009010 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009007 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009003 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0009000 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8465,44 +8454,44 @@ MONDO:0008995 NORD:1875 MONDO:NORD Yunis Varon Syndrome NORD:1875 http://purl.ob MONDO:0008992 NORD:1531 MONDO:NORD Orocraniodigital Syndrome NORD:1531 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1531 MONDO:NORD MONDO:0008990 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008982 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008980 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008978 NORD:931 MONDO:NORD NORD:931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:931 MONDO:NORD +MONDO:0008979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008972 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008970 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008966 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008965 NORD:920 MONDO:NORD NORD:920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:920 MONDO:NORD +MONDO:0008966 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008963 NORD:921 MONDO:NORD Chediak Higashi Syndrome NORD:921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:921 MONDO:NORD MONDO:0008961 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008954 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008955 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008948 NORD:915 MONDO:NORD NORD:915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:915 MONDO:NORD +MONDO:0008958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008947 NORD:1127 MONDO:NORD Primary Familial Brain Calcification NORD:1127 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1127 MONDO:NORD +MONDO:0008948 NORD:915 MONDO:NORD NORD:915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:915 MONDO:NORD MONDO:0008944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008943 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008939 NORD:910 MONDO:NORD Cerebellar Agenesis NORD:910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:910 MONDO:NORD -MONDO:0008934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008931 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008926 NORD:913 MONDO:NORD Cerebro Oculo Facio Skeletal Syndrome NORD:913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:913 MONDO:NORD +MONDO:0008934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008925 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008926 NORD:913 MONDO:NORD Cerebro Oculo Facio Skeletal Syndrome NORD:913 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:913 MONDO:NORD MONDO:0008923 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008921 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8511,33 +8500,33 @@ MONDO:0008915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008908 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008907 NORD:1585 MONDO:NORD PMM2-CDG NORD:1585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1585 MONDO:NORD MONDO:0008905 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008900 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008896 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008901 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008898 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008894 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008896 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008893 NORD:882 MONDO:NORD NORD:882 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:882 MONDO:NORD +MONDO:0008894 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008891 NORD:1960 MONDO:NORD NORD:1960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1960 MONDO:NORD +MONDO:0008892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008889 NORD:880 MONDO:NORD Buerger's Disease NORD:880 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:880 MONDO:NORD MONDO:0008890 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008888 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008889 NORD:880 MONDO:NORD Buerger's Disease NORD:880 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:880 MONDO:NORD MONDO:0008885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008881 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008877 NORD:864 MONDO:NORD NORD:864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:864 MONDO:NORD MONDO:0008878 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008879 NORD:869 MONDO:NORD Bowen Hutterite Syndrome NORD:869 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:869 MONDO:NORD -MONDO:0008877 NORD:864 MONDO:NORD NORD:864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:864 MONDO:NORD MONDO:0008875 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008876 NORD:863 MONDO:NORD NORD:863 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:863 MONDO:NORD MONDO:0008873 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008872 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008867 NORD:1114 MONDO:NORD NORD:1114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1114 MONDO:NORD MONDO:0008869 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008867 NORD:1114 MONDO:NORD NORD:1114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1114 MONDO:NORD MONDO:0008864 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008863 NORD:1911 MONDO:NORD NORD:1911 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1911 MONDO:NORD @@ -8551,35 +8540,35 @@ MONDO:0008846 NORD:819 MONDO:NORD NORD:819 http://purl.obolibrary.org/obo/mondo MONDO:0008842 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008840 NORD:816 MONDO:NORD NORD:816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:816 MONDO:NORD MONDO:0008838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008832 NORD:1305 MONDO:NORD Ivemark Syndrome NORD:1305 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1305 MONDO:NORD -MONDO:0008830 NORD:813 MONDO:NORD Aspartylglycosaminuria NORD:813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:813 MONDO:NORD MONDO:0008831 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008832 NORD:1305 MONDO:NORD Ivemark Syndrome NORD:1305 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1305 MONDO:NORD MONDO:0008829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008830 NORD:813 MONDO:NORD Aspartylglycosaminuria NORD:813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:813 MONDO:NORD MONDO:0008828 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008824 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008818 NORD:803 MONDO:NORD NORD:803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:803 MONDO:NORD MONDO:0008822 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008817 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008815 NORD:802 MONDO:NORD NORD:802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:802 MONDO:NORD -MONDO:0008812 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008811 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008812 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008803 NORD:792 MONDO:NORD NORD:792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:792 MONDO:NORD MONDO:0008800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008799 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008795 NORD:786 MONDO:NORD Aniridia Cerebellar Ataxia Mental Deficiency NORD:786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:786 MONDO:NORD MONDO:0008791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008785 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008781 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8588,75 +8577,75 @@ MONDO:0008780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008769 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008767 NORD:843 MONDO:NORD Juvenile CLN3 Disease NORD:843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:843 MONDO:NORD -MONDO:0008768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008765 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008763 NORD:757 MONDO:NORD Alström Syndrome NORD:757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:757 MONDO:NORD MONDO:0008764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008762 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008763 NORD:757 MONDO:NORD Alström Syndrome NORD:757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:757 MONDO:NORD -MONDO:0008759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008759 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008758 NORD:752 MONDO:NORD Alpers Disease NORD:752 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:752 MONDO:NORD -MONDO:0008755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008753 NORD:750 MONDO:NORD NORD:750 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:750 MONDO:NORD +MONDO:0008757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008754 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008755 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008752 NORD:749 MONDO:NORD NORD:749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:749 MONDO:NORD +MONDO:0008753 NORD:750 MONDO:NORD NORD:750 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:750 MONDO:NORD MONDO:0008751 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008749 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008746 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008741 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008745 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008742 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008737 NORD:739 MONDO:NORD NORD:739 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:739 MONDO:NORD MONDO:0008740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008741 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008737 NORD:739 MONDO:NORD NORD:739 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:739 MONDO:NORD MONDO:0008734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008732 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008727 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008730 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008728 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008723 NORD:1827 MONDO:NORD Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) NORD:1827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1827 MONDO:NORD +MONDO:0008727 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008724 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008723 NORD:1827 MONDO:NORD Very Long Chain Acyl CoA Dehydrogenase Deficiency (LCAD) NORD:1827 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1827 MONDO:NORD MONDO:0008722 NORD:1709 MONDO:NORD Short Chain Acyl CoA Dehydrogenase Deficiency NORD:1709 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1709 MONDO:NORD MONDO:0008720 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008716 NORD:1202 MONDO:NORD Gottron Syndrome NORD:1202 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1202 MONDO:NORD MONDO:0008717 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008714 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008715 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008716 NORD:1202 MONDO:NORD Gottron Syndrome NORD:1202 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1202 MONDO:NORD MONDO:0008713 NORD:721 MONDO:NORD NORD:721 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:721 MONDO:NORD -MONDO:0008710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008708 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008714 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008709 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008707 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008708 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008702 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008703 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008700 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008699 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008700 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008695 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008696 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008693 NORD:704 MONDO:NORD Ablepharon-Macrostomia Syndrome NORD:704 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:704 MONDO:NORD MONDO:0008692 NORD:703 MONDO:NORD NORD:703 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:703 MONDO:NORD +MONDO:0008689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008690 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008688 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008689 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008684 NORD:1859 MONDO:NORD NORD:1859 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1859 MONDO:NORD MONDO:0008683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008684 NORD:1859 MONDO:NORD NORD:1859 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1859 MONDO:NORD MONDO:0008682 NORD:1044 MONDO:NORD NORD:1044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1044 MONDO:NORD MONDO:0008681 NORD:1833 MONDO:NORD WAGR Syndrome/11p Deletion Syndrome NORD:1833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1833 MONDO:NORD MONDO:0008679 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8667,22 +8656,22 @@ MONDO:0008675 NORD:1161 MONDO:NORD Freeman Sheldon Syndrome NORD:1161 http://pur MONDO:0008673 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008663 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008667 NORD:1830 MONDO:NORD NORD:1830 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1830 MONDO:NORD MONDO:0008662 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008663 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008659 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008653 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008652 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008647 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008642 NORD:1818 MONDO:NORD VACTERL Association NORD:1818 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1818 MONDO:NORD MONDO:0008644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008641 NORD:1910 MONDO:NORD NORD:1910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1910 MONDO:NORD MONDO:0008633 NORD:1459 MONDO:NORD NORD:1459 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1459 MONDO:NORD -MONDO:0008622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008621 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8690,27 +8679,27 @@ MONDO:0008610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008607 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008599 NORD:1791 MONDO:NORD NORD:1791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1791 MONDO:NORD -MONDO:0008594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008596 NORD:1787 MONDO:NORD NORD:1787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1787 MONDO:NORD +MONDO:0008594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008592 NORD:1786 MONDO:NORD Tricho Dento Osseous Syndrome NORD:1786 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1786 MONDO:NORD MONDO:0008588 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008586 NORD:1108 MONDO:NORD Esophageal Atresia and/or Tracheoesophageal Fistula NORD:1108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1108 MONDO:NORD MONDO:0008583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008582 NORD:1777 MONDO:NORD NORD:1777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1777 MONDO:NORD MONDO:0008572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008582 NORD:1777 MONDO:NORD NORD:1777 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1777 MONDO:NORD MONDO:0008571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008565 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008567 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008565 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008563 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008559 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008557 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008555 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8725,9 +8714,9 @@ MONDO:0008538 NORD:805 MONDO:NORD Giant Cell Arteritis NORD:805 http://purl.obol MONDO:0008535 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008534 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008523 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008521 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008515 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008516 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8735,10 +8724,10 @@ MONDO:0008514 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008512 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008513 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008502 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008504 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008501 NORD:1741 MONDO:NORD Sturge Weber Syndrome NORD:1741 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1741 MONDO:NORD MONDO:0008497 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008499 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8747,111 +8736,111 @@ MONDO:0008495 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008491 NORD:1740 MONDO:NORD Stiff Person Syndrome NORD:1740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1740 MONDO:NORD -MONDO:0008486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008488 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008490 NORD:1533 MONDO:NORD OSMED, Heterozygous NORD:1533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1533 MONDO:NORD MONDO:0008485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008479 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008488 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008482 NORD:1736 MONDO:NORD NORD:1736 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1736 MONDO:NORD +MONDO:0008484 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008476 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008479 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008477 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008474 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008476 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008471 NORD:1733 MONDO:NORD Spondyloepiphyseal Dysplasia, Congenital NORD:1733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1733 MONDO:NORD MONDO:0008467 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008469 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008466 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008464 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008465 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008466 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008460 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008464 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008457 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008458 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008447 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008438 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008434 NORD:1725 MONDO:NORD Smith Magenis Syndrome NORD:1725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1725 MONDO:NORD +MONDO:0008438 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008436 NORD:1726 MONDO:NORD NORD:1726 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1726 MONDO:NORD +MONDO:0008434 NORD:1725 MONDO:NORD Smith Magenis Syndrome NORD:1725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1725 MONDO:NORD MONDO:0008433 Small cell lung cancer http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008428 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008429 NORD:1718 MONDO:NORD Singleton Merten syndrome NORD:1718 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1718 MONDO:NORD MONDO:0008426 NORD:1908 MONDO:NORD Shprintzen Goldberg Syndrome NORD:1908 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1908 MONDO:NORD +MONDO:0008428 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008425 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008416 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008411 NORD:1695 MONDO:NORD Schinzel Syndrome NORD:1695 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1695 MONDO:NORD MONDO:0008410 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008409 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008407 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008408 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008409 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008404 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008402 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008396 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008394 NORD:1683 MONDO:NORD Russell-Silver Syndrome NORD:1683 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1683 MONDO:NORD +MONDO:0008395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008393 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008390 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008392 NORD:1679 MONDO:NORD Roussy Lévy Syndrome NORD:1679 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1679 MONDO:NORD MONDO:0008388 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008389 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008390 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008386 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008371 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008372 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008373 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008369 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008358 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008359 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008365 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008357 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008346 NORD:91174 MONDO:NORD Idiopathic Pulmonary Hemosiderosis NORD:91174 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:91174 MONDO:NORD MONDO:0008348 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008343 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008343 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008335 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008335 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008323 NORD:2034 MONDO:NORD NORD:2034 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2034 MONDO:NORD MONDO:0008319 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008322 NORD:1625 MONDO:NORD NORD:1625 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1625 MONDO:NORD -MONDO:0008318 NORD:1622 MONDO:NORD NORD:1622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1622 MONDO:NORD MONDO:0008316 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008311 NORD:1473 MONDO:NORD Mulvihill-Smith Syndrome NORD:1473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1473 MONDO:NORD +MONDO:0008318 NORD:1622 MONDO:NORD NORD:1622 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1622 MONDO:NORD MONDO:0008312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008310 NORD:1257 MONDO:NORD NORD:1257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1257 MONDO:NORD +MONDO:0008311 NORD:1473 MONDO:NORD Mulvihill-Smith Syndrome NORD:1473 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1473 MONDO:NORD MONDO:0008306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008305 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008303 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008301 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008300 NORD:1602 MONDO:NORD NORD:1602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1602 MONDO:NORD -MONDO:0008297 NORD:1821 MONDO:NORD NORD:1821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1821 MONDO:NORD MONDO:0008296 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008297 NORD:1821 MONDO:NORD NORD:1821 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1821 MONDO:NORD MONDO:0008294 NORD:729 MONDO:NORD NORD:729 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:729 MONDO:NORD +MONDO:0008295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008292 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008293 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008290 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008291 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008287 NORD:1206 MONDO:NORD NORD:1206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1206 MONDO:NORD MONDO:0008289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008287 NORD:1206 MONDO:NORD NORD:1206 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1206 MONDO:NORD MONDO:0008283 NORD:1017 MONDO:NORD NORD:1017 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1017 MONDO:NORD MONDO:0008278 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008280 NORD:1570 MONDO:NORD Peutz Jeghers Syndrome NORD:1570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1570 MONDO:NORD @@ -8864,45 +8853,45 @@ MONDO:0008271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008264 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008265 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008180 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8913,34 +8902,34 @@ MONDO:0008174 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008175 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008172 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008142 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008145 NORD:1526 MONDO:NORD NORD:1526 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1526 MONDO:NORD MONDO:0008138 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008136 NORD:1528 MONDO:NORD Optic Nerve Hypoplasia NORD:1528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1528 MONDO:NORD MONDO:0008137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008136 NORD:1528 MONDO:NORD Optic Nerve Hypoplasia NORD:1528 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1528 MONDO:NORD MONDO:0008133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008124 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008123 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008118 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008119 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008116 NORD:1523 MONDO:NORD NORD:1523 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1523 MONDO:NORD -MONDO:0008118 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008113 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008111 NORD:1519 MONDO:NORD Oculo-Dento-Digital Dysplasia NORD:1519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1519 MONDO:NORD @@ -8981,8 +8970,8 @@ MONDO:0008043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008040 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -8996,71 +8985,71 @@ MONDO:0008008 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0008009 NORD:1454 MONDO:NORD NORD:1454 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1454 MONDO:NORD MONDO:0008006 NORD:1453 MONDO:NORD Moebius Syndrome NORD:1453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1453 MONDO:NORD MONDO:0008005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0008002 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008004 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0008003 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0008002 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007994 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007995 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007989 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007993 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007990 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007989 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007987 NORD:1339 MONDO:NORD NORD:1339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1339 MONDO:NORD MONDO:0007988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007984 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007986 NORD:1445 MONDO:NORD Metatropic Dysplasia I NORD:1445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1445 MONDO:NORD MONDO:0007982 NORD:1307 MONDO:NORD Jansen Type Metaphyseal Chondrodysplasia NORD:1307 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1307 MONDO:NORD MONDO:0007983 NORD:1444 MONDO:NORD Metaphyseal Chondrodysplasia, Schmid Type NORD:1444 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1444 MONDO:NORD -MONDO:0007977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007979 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007975 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007970 NORD:1431 MONDO:NORD NORD:1431 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1431 MONDO:NORD MONDO:0007971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007972 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007969 NORD:1429 MONDO:NORD NORD:1429 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1429 MONDO:NORD +MONDO:0007970 NORD:1431 MONDO:NORD NORD:1431 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1431 MONDO:NORD MONDO:0007965 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007964 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007961 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007962 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007959 NORD:1422 MONDO:NORD NORD:1422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1422 MONDO:NORD MONDO:0007956 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007949 NORD:1407 MONDO:NORD NORD:1407 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1407 MONDO:NORD MONDO:0007950 NORD:1408 MONDO:NORD NORD:1408 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1408 MONDO:NORD +MONDO:0007953 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007947 NORD:1403 MONDO:NORD NORD:1403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1403 MONDO:NORD MONDO:0007944 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007946 NORD:1401 MONDO:NORD Marcus Gunn Phenomenon NORD:1401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1401 MONDO:NORD +MONDO:0007938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007943 NORD:1487 MONDO:NORD Nager Syndrome NORD:1487 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1487 MONDO:NORD MONDO:0007937 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007938 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007935 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007934 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007932 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007931 NORD:853 MONDO:NORD Best Vitelliform Macular Dystrophy NORD:853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:853 MONDO:NORD -MONDO:0007927 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007925 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007922 NORD:1383 MONDO:NORD NORD:1383 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1383 MONDO:NORD MONDO:0007924 NORD:1684 MONDO:NORD NORD:1684 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1684 MONDO:NORD MONDO:0007921 NORD:1874 MONDO:NORD NORD:1874 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1874 MONDO:NORD -MONDO:0007922 NORD:1383 MONDO:NORD NORD:1383 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1383 MONDO:NORD MONDO:0007920 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007916 NORD:1609 MONDO:NORD NORD:1609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1609 MONDO:NORD MONDO:0007918 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007915 NORD:1380 MONDO:NORD Lupus NORD:1380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1380 MONDO:NORD +MONDO:0007916 NORD:1609 MONDO:NORD NORD:1609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1609 MONDO:NORD MONDO:0007909 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007907 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007908 NORD:1392 MONDO:NORD Madelung's Disease NORD:1392 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1392 MONDO:NORD MONDO:0007904 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007906 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007896 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007894 NORD:1364 MONDO:NORD NORD:1364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1364 MONDO:NORD -MONDO:0007892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007895 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007893 NORD:1360 MONDO:NORD NORD:1360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1360 MONDO:NORD +MONDO:0007892 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007891 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007887 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007888 NORD:1231 MONDO:NORD Hereditary Leiomyomatosis and Renal Cell Carcinoma NORD:1231 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1231 MONDO:NORD @@ -9077,53 +9066,53 @@ MONDO:0007874 NORD:1788 MONDO:NORD NORD:1788 http://purl.obolibrary.org/obo/mon MONDO:0007868 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007866 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007863 NORD:1334 MONDO:NORD NORD:1334 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1334 MONDO:NORD MONDO:0007864 NORD:1337 MONDO:NORD Klippel-Trenaunay Syndrome NORD:1337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1337 MONDO:NORD +MONDO:0007861 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007863 NORD:1334 MONDO:NORD NORD:1334 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1334 MONDO:NORD MONDO:0007860 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007861 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007858 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007859 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007854 NORD:1286 MONDO:NORD NORD:1286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1286 MONDO:NORD MONDO:0007856 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007857 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007853 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007850 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007854 NORD:1286 MONDO:NORD NORD:1286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1286 MONDO:NORD MONDO:0007852 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007846 NORD:1322 MONDO:NORD NORD:1322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1322 MONDO:NORD +MONDO:0007850 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007848 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007846 NORD:1322 MONDO:NORD NORD:1322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1322 MONDO:NORD MONDO:0007843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007836 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007827 NORD:1734 MONDO:NORD Sporadic Inclusion Body Myositis NORD:1734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1734 MONDO:NORD MONDO:0007829 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007819 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007812 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007813 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007808 NORD:1281 MONDO:NORD Ichthyosis Hystrix, Curth Macklin Type NORD:1281 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1281 MONDO:NORD MONDO:0007804 NORD:1545 MONDO:NORD NORD:1545 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1545 MONDO:NORD MONDO:0007805 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007803 NORD:1472 MONDO:NORD NORD:1472 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1472 MONDO:NORD -MONDO:0007800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007797 NORD:837 MONDO:NORD Barakat Syndrome NORD:837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:837 MONDO:NORD -MONDO:0007796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007800 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007795 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007796 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007793 NORD:1271 MONDO:NORD NORD:1271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1271 MONDO:NORD +MONDO:0007794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007790 NORD:1037 MONDO:NORD Dejerine-Sottas Syndrome NORD:1037 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1037 MONDO:NORD +MONDO:0007791 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007787 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007788 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007772 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007776 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007784 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007772 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007771 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9132,17 +9121,17 @@ MONDO:0007765 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007763 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007762 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007756 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007757 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007747 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007740 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007744 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007739 NORD:1256 MONDO:NORD Huntington's Disease NORD:1256 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1256 MONDO:NORD -MONDO:0007735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007737 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007734 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007735 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007732 NORD:1248 MONDO:NORD Holt Oram Syndrome NORD:1248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1248 MONDO:NORD MONDO:0007733 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007727 NORD:1804 MONDO:NORD Tumor Necrosis Factor Receptor-Associated Periodic Syndrome NORD:1804 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1804 MONDO:NORD @@ -9153,10 +9142,10 @@ MONDO:0007716 NORD:1879 MONDO:NORD ATR-16 Syndrome NORD:1879 http://purl.obolibr MONDO:0007713 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007712 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007708 NORD:1320 MONDO:NORD Kasabach-Merritt Phenomenon NORD:1320 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1320 MONDO:NORD MONDO:0007710 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007702 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007705 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007708 NORD:1320 MONDO:NORD Kasabach-Merritt Phenomenon NORD:1320 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1320 MONDO:NORD MONDO:0007700 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007701 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007698 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9174,9 +9163,9 @@ MONDO:0007671 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007669 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007667 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007662 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007660 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007653 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007656 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007652 NORD:1432 MONDO:NORD Menetrier Disease NORD:1432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1432 MONDO:NORD MONDO:0007650 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9184,46 +9173,46 @@ MONDO:0007648 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007646 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007642 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007644 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007640 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007637 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007639 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007635 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007636 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007631 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007627 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007630 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007626 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007627 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007621 NORD:1151 MONDO:NORD Floating Harbor Syndrome NORD:1151 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1151 MONDO:NORD MONDO:0007620 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007619 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007618 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007615 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007617 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007614 NORD:997 MONDO:NORD Congenital Fibrosis of the Extraocular Muscles NORD:997 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:997 MONDO:NORD MONDO:0007612 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007610 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007609 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007608 NORD:1049 MONDO:NORD NORD:1049 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1049 MONDO:NORD MONDO:0007604 NORD:1136 MONDO:NORD Femoral Facial Syndrome NORD:1136 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1136 MONDO:NORD MONDO:0007606 NORD:1143 MONDO:NORD NORD:1143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1143 MONDO:NORD MONDO:0007601 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007603 NORD:1135 MONDO:NORD NORD:1135 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1135 MONDO:NORD -MONDO:0007592 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007595 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007589 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007592 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007590 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007586 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007589 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007587 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007586 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007585 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007574 NORD:1105 MONDO:NORD Erythrokeratodermia with Ataxia NORD:1105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1105 MONDO:NORD MONDO:0007571 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007568 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007570 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007566 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007565 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007562 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007564 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007561 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007560 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007556 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9233,132 +9222,132 @@ MONDO:0007552 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007554 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007551 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007550 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007548 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007549 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007542 NORD:885 MONDO:NORD NORD:885 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:885 MONDO:NORD -MONDO:0007539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007546 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007540 NORD:1466 MONDO:NORD NORD:1466 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1466 MONDO:NORD +MONDO:0007539 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007536 NORD:1085 MONDO:NORD Emphysema, Congenital Lobar NORD:1085 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1085 MONDO:NORD MONDO:0007537 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007534 NORD:845 MONDO:NORD NORD:845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:845 MONDO:NORD MONDO:0007533 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007534 NORD:845 MONDO:NORD NORD:845 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:845 MONDO:NORD MONDO:0007529 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007527 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007526 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007519 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007520 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007522 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007511 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007509 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007510 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007508 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007503 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007496 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007495 NORD:1702 MONDO:NORD Segawa Syndrome NORD:1702 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1702 MONDO:NORD MONDO:0007493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007490 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007492 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007489 NORD:1072 MONDO:NORD NORD:1072 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1072 MONDO:NORD -MONDO:0007490 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007485 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007481 NORD:1070 MONDO:NORD NORD:1070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1070 MONDO:NORD +MONDO:0007486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007478 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007473 NORD:1062 MONDO:NORD Duane syndrome NORD:1062 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1062 MONDO:NORD +MONDO:0007481 NORD:1070 MONDO:NORD NORD:1070 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1070 MONDO:NORD MONDO:0007477 NORD:1767 MONDO:NORD Three M Syndrome NORD:1767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1767 MONDO:NORD -MONDO:0007471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007458 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007473 NORD:1062 MONDO:NORD Duane syndrome NORD:1062 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1062 MONDO:NORD MONDO:0007470 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007471 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007453 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007458 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007449 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007450 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007445 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007447 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007449 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007442 NORD:1043 MONDO:NORD Dentinogenesis Imperfecta Type III NORD:1043 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1043 MONDO:NORD MONDO:0007443 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007441 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007436 NORD:1041 MONDO:NORD NORD:1041 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1041 MONDO:NORD MONDO:0007437 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007435 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007436 NORD:1041 MONDO:NORD NORD:1041 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1041 MONDO:NORD -MONDO:0007432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007434 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007429 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007432 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007424 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007422 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007420 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007417 NORD:1329 MONDO:NORD Keratosis Follicularis NORD:1329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1329 MONDO:NORD MONDO:0007415 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007414 NORD:1200 MONDO:NORD NORD:1200 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1200 MONDO:NORD -MONDO:0007410 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007411 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007412 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007407 NORD:1452 MONDO:NORD Mixed Cryoglobulinemia NORD:1452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1452 MONDO:NORD +MONDO:0007410 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007405 NORD:1018 MONDO:NORD NORD:1018 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1018 MONDO:NORD +MONDO:0007407 NORD:1452 MONDO:NORD Mixed Cryoglobulinemia NORD:1452 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1452 MONDO:NORD MONDO:0007404 NORD:1015 MONDO:NORD Cri du Chat Syndrome NORD:1015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1015 MONDO:NORD MONDO:0007401 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007403 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007399 NORD:1606 MONDO:NORD Primary Craniosynostosis NORD:1606 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1606 MONDO:NORD MONDO:0007400 NORD:1306 MONDO:NORD NORD:1306 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1306 MONDO:NORD -MONDO:0007397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007395 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007397 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007389 NORD:1915 MONDO:NORD Spondylothoracic Dysplasia NORD:1915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1915 MONDO:NORD MONDO:0007387 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007388 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007389 NORD:1915 MONDO:NORD Spondylothoracic Dysplasia NORD:1915 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1915 MONDO:NORD MONDO:0007384 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007385 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007382 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007380 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007381 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007378 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007379 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007377 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007376 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007374 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007369 NORD:1228 MONDO:NORD NORD:1228 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1228 MONDO:NORD -MONDO:0007364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007366 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007368 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007363 NORD:844 MONDO:NORD NORD:844 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:844 MONDO:NORD +MONDO:0007364 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007362 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007360 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007355 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007356 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007353 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007351 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007352 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007349 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007344 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007345 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007346 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007343 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007340 NORD:978 MONDO:NORD Cleidocranial Dysplasia NORD:978 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:978 MONDO:NORD MONDO:0007339 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007337 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007334 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007332 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007329 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007321 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007330 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007322 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007319 NORD:930 MONDO:NORD Familial Calcium Pyrophosphate Deposition Disease NORD:930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:930 MONDO:NORD +MONDO:0007325 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007321 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007318 NORD:748 MONDO:NORD NORD:748 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:748 MONDO:NORD -MONDO:0007313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007319 NORD:930 MONDO:NORD Familial Calcium Pyrophosphate Deposition Disease NORD:930 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:930 MONDO:NORD MONDO:0007315 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007316 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007311 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007309 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007308 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007306 NORD:1336 MONDO:NORD Klippel-Feil Syndrome NORD:1336 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1336 MONDO:NORD MONDO:0007307 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007301 NORD:914 MONDO:NORD NORD:914 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:914 MONDO:NORD +MONDO:0007306 NORD:1336 MONDO:NORD Klippel-Feil Syndrome NORD:1336 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1336 MONDO:NORD MONDO:0007298 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007300 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007296 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007297 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007295 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9369,106 +9358,106 @@ MONDO:0007288 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007289 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007286 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007287 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007284 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007282 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007283 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007280 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007278 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007279 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007280 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007276 NORD:899 MONDO:NORD Cat Eye Syndrome NORD:899 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:899 MONDO:NORD -MONDO:0007271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007278 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007273 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007271 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007272 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007270 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007268 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007269 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007267 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007265 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007266 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007259 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007256 NORD:1907 MONDO:NORD NORD:1907 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1907 MONDO:NORD -MONDO:0007251 NORD:884 MONDO:NORD Campomelic Syndrome NORD:884 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:884 MONDO:NORD MONDO:0007252 NORD:1199 MONDO:NORD NORD:1199 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1199 MONDO:NORD MONDO:0007250 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007251 NORD:884 MONDO:NORD Campomelic Syndrome NORD:884 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:884 MONDO:NORD MONDO:0007248 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007249 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007247 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007244 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007245 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007247 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007243 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007244 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007239 NORD:1100 MONDO:NORD NORD:1100 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1100 MONDO:NORD MONDO:0007237 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007235 NORD:871 MONDO:NORD Branchio Oculo Facial Syndrome NORD:871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:871 MONDO:NORD -MONDO:0007232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007233 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007235 NORD:871 MONDO:NORD Branchio Oculo Facial Syndrome NORD:871 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:871 MONDO:NORD MONDO:0007230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007232 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007227 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007225 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007222 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007225 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007220 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007221 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007219 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007217 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007222 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007218 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007219 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007216 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007217 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007211 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007209 NORD:1843 MONDO:NORD Weismann Netter Stuhl Syndrome NORD:1843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1843 MONDO:NORD MONDO:0007208 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007209 NORD:1843 MONDO:NORD Weismann Netter Stuhl Syndrome NORD:1843 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1843 MONDO:NORD MONDO:0007205 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007203 NORD:865 MONDO:NORD Blue Rubber Bleb Nevus syndrome NORD:865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:865 MONDO:NORD -MONDO:0007201 NORD:862 MONDO:NORD Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome NORD:862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:862 MONDO:NORD -MONDO:0007198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007204 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007200 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007201 NORD:862 MONDO:NORD Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome NORD:862 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:862 MONDO:NORD MONDO:0007194 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007195 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007198 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007193 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007188 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007187 NORD:1507 MONDO:NORD NORD:1507 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1507 MONDO:NORD MONDO:0007184 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007182 NORD:1389 MONDO:NORD NORD:1389 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1389 MONDO:NORD +MONDO:0007177 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007176 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007174 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007172 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007173 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007171 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007170 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007167 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007168 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007165 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007164 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007163 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007159 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007158 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007157 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007158 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007152 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007154 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007145 NORD:794 MONDO:NORD NORD:794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:794 MONDO:NORD -MONDO:0007142 NORD:1780 MONDO:NORD NORD:1780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1780 MONDO:NORD MONDO:0007138 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007142 NORD:1780 MONDO:NORD NORD:1780 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1780 MONDO:NORD MONDO:0007137 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007134 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007130 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007127 NORD:1053 MONDO:NORD NORD:1053 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1053 MONDO:NORD MONDO:0007124 NORD:738 MONDO:NORD AEC Syndrome NORD:738 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:738 MONDO:NORD -MONDO:0007118 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007127 NORD:1053 MONDO:NORD NORD:1053 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1053 MONDO:NORD MONDO:0007119 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007113 NORD:782 MONDO:NORD NORD:782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:782 MONDO:NORD +MONDO:0007118 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007114 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007111 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007112 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007113 NORD:782 MONDO:NORD NORD:782 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:782 MONDO:NORD MONDO:0007110 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007108 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007109 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007105 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007104 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007103 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9478,14 +9467,14 @@ MONDO:0007098 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007095 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007097 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007093 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007085 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007085 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007078 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007083 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007080 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007075 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007077 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007078 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007073 NORD:1215 MONDO:NORD Hanhart Syndrome NORD:1215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1215 MONDO:NORD MONDO:0007070 NORD:1046 MONDO:NORD Dercum's Disease NORD:1046 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1046 MONDO:NORD MONDO:0007072 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9494,22 +9483,22 @@ MONDO:0007066 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007064 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007062 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007058 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007055 NORD:725 MONDO:NORD NORD:725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:725 MONDO:NORD MONDO:0007056 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007057 NORD:1214 MONDO:NORD Hajdu Cheney Syndrome NORD:1214 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1214 MONDO:NORD -MONDO:0007055 NORD:725 MONDO:NORD NORD:725 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:725 MONDO:NORD MONDO:0007048 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007047 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007045 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007047 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007043 NORD:1572 MONDO:NORD NORD:1572 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1572 MONDO:NORD -MONDO:0007041 NORD:793 MONDO:NORD NORD:793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:793 MONDO:NORD +MONDO:0007044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007042 NORD:1686 MONDO:NORD Saethre Chotzen Syndrome NORD:1686 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1686 MONDO:NORD -MONDO:0007037 NORD:711 MONDO:NORD NORD:711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:711 MONDO:NORD +MONDO:0007041 NORD:793 MONDO:NORD NORD:793 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:793 MONDO:NORD MONDO:0007039 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0007034 NORD:731 MONDO:NORD NORD:731 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:731 MONDO:NORD +MONDO:0007037 NORD:711 MONDO:NORD NORD:711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:711 MONDO:NORD MONDO:0007032 NORD:1623 MONDO:NORD NORD:1623 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1623 MONDO:NORD -MONDO:0007031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0007034 NORD:731 MONDO:NORD NORD:731 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:731 MONDO:NORD MONDO:0007030 NORD:702 MONDO:NORD Aarskog Syndrome NORD:702 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:702 MONDO:NORD +MONDO:0007031 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007029 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007012 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006987 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9529,9 +9518,9 @@ MONDO:0006839 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006835 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006825 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006806 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006789 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006792 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006794 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006760 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006746 NORD:1092 MONDO:NORD NORD:1092 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1092 MONDO:NORD MONDO:0006745 NORD:1086 MONDO:NORD Empty Sella Syndrome NORD:1086 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1086 MONDO:NORD @@ -9546,8 +9535,8 @@ MONDO:0006606 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006594 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006583 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006558 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006536 NORD:998 MONDO:NORD NORD:998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:998 MONDO:NORD MONDO:0006543 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006536 NORD:998 MONDO:NORD NORD:998 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:998 MONDO:NORD MONDO:0006541 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006486 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9578,18 +9567,18 @@ MONDO:0006276 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006260 NORD:1999 MONDO:NORD Renal Medullary Carcinoma NORD:1999 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1999 MONDO:NORD MONDO:0006257 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006247 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006237 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006238 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006235 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006230 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006183 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006188 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006183 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006172 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006158 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006143 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0006133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006131 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0006133 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006115 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006103 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006094 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9609,28 +9598,28 @@ MONDO:0006015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0006009 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0006005 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005991 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005988 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005979 NORD:1766 MONDO:NORD NORD:1766 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1766 MONDO:NORD -MONDO:0005981 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005977 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005968 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005969 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005960 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005942 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005933 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005919 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005910 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005894 NORD:1553 MONDO:NORD NORD:1553 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1553 MONDO:NORD -MONDO:0005883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005893 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005883 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005865 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005854 NORD:1451 MONDO:NORD NORD:1451 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1451 MONDO:NORD MONDO:0005851 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005846 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005841 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005837 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005838 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005835 NORD:1386 MONDO:NORD NORD:1386 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1386 MONDO:NORD MONDO:0005828 NORD:1375 MONDO:NORD NORD:1375 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1375 MONDO:NORD MONDO:0005825 NORD:1363 MONDO:NORD NORD:1363 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1363 MONDO:NORD @@ -9638,15 +9627,15 @@ MONDO:0005823 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0005824 NORD:1354 MONDO:NORD Legionnaires' Disease NORD:1354 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1354 MONDO:NORD MONDO:0005820 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005817 NORD:1338 MONDO:NORD NORD:1338 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1338 MONDO:NORD -MONDO:0005802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005803 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005798 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005802 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005801 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005797 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005789 NORD:2020 MONDO:NORD Hepatitis D NORD:2020 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:2020 MONDO:NORD MONDO:0005773 NORD:1180 MONDO:NORD NORD:1180 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1180 MONDO:NORD -MONDO:0005769 NORD:1647 MONDO:NORD Ramsay Hunt Syndrome NORD:1647 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1647 MONDO:NORD MONDO:0005767 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005769 NORD:1647 MONDO:NORD Ramsay Hunt Syndrome NORD:1647 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1647 MONDO:NORD MONDO:0005764 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005754 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005761 NORD:1082 MONDO:NORD Elephantiasis NORD:1082 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1082 MONDO:NORD @@ -9666,14 +9655,14 @@ MONDO:0005711 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0005708 NORD:989 MONDO:NORD NORD:989 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:989 MONDO:NORD MONDO:0005706 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005692 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005683 NORD:877 MONDO:NORD NORD:877 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:877 MONDO:NORD -MONDO:0005670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005680 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005674 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005668 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005662 NORD:833 MONDO:NORD NORD:833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:833 MONDO:NORD +MONDO:0005670 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005657 NORD:814 MONDO:NORD NORD:814 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:814 MONDO:NORD MONDO:0005661 NORD:832 MONDO:NORD NORD:832 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:832 MONDO:NORD +MONDO:0005662 NORD:833 MONDO:NORD NORD:833 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:833 MONDO:NORD MONDO:0005645 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005631 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005629 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9707,8 +9696,8 @@ MONDO:0005357 NORD:1014 MONDO:NORD Creutzfeldt Jakob Disease NORD:1014 http://pu MONDO:0005342 NORD:1298 MONDO:NORD IgA Nephropathy NORD:1298 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1298 MONDO:NORD MONDO:0005340 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005321 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005312 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005313 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005282 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005272 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005224 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -9716,8 +9705,8 @@ MONDO:0005223 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0005220 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005215 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005212 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0005210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005207 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0005210 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005201 http://purl.obolibrary.org/obo/mondo#NORD_LABEL 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:784 MONDO:NORD +MONDO:0004976 NORD:768 MONDO:NORD NORD:768 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:768 MONDO:NORD MONDO:0004974 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0004971 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0004967 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0004958 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0004952 NORD:1246 MONDO:NORD Hodgkin's Disease NORD:1246 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare NORD:1246 MONDO:NORD -MONDO:0004948 NORD:971 MONDO:NORD Chronic Lymphocytic Leukemia 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http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000050 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0000044 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000023 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0000015 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0100032 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0035547 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0020716 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018774 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0018603 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014598 DNM1-Encephalopathy and Neurodevelopmental Disorder http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0014347 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0013881 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0013810 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0009917 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD +MONDO:0032922 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0044655 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0035685 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0035160 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -10139,7 +10139,6 @@ MONDO:0016815 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0016816 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0016518 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0015872 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0014973 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014605 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014602 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0014493 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD @@ -10155,6 +10154,4 @@ MONDO:0009929 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.ob MONDO:0007758 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0007525 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD MONDO:0005676 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0004694 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD -MONDO:0004651 http://purl.obolibrary.org/obo/mondo#NORD_LABEL http://purl.obolibrary.org/obo/mondo#nord_rare MONDO:NORD diff --git a/src/ontology/external/ordo-subsets.robot.owl b/src/ontology/external/ordo-subsets.robot.owl index 2fa7b858..488a4a03 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#"> - + diff --git a/src/ontology/external/ordo-subsets.robot.tsv b/src/ontology/external/ordo-subsets.robot.tsv index 95395479..692b79ed 100644 --- a/src/ontology/external/ordo-subsets.robot.tsv +++ b/src/ontology/external/ordo-subsets.robot.tsv @@ -348,7 +348,7 @@ MONDO:0007031 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:86 fam MONDO:0007032 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:2970 prune belly syndrome Prune belly syndrome MONDO:0007034 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:974 Adams-Oliver syndrome Adams-Oliver syndrome MONDO:0007037 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:15 Achondroplasia Achondroplasia -MONDO:0007039 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:637 neurofibromatosis type 2 Full NF2-related schwannomatosis +MONDO:0007039 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:637 NF2-related schwannomatosis Full NF2-related schwannomatosis MONDO:0007041 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:87 Apert syndrome Apert syndrome MONDO:0007042 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:794 Saethre-Chotzen syndrome Saethre-Chotzen syndrome MONDO:0007043 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:710 Pfeiffer syndrome Pfeiffer syndrome @@ -578,7 +578,7 @@ MONDO:0007552 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0007554 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79399 epidermolysis bullosa simplex 1B, generalized intermediate Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form MONDO:0007555 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79401 pidermolysis bullosa simplex 5A, Ogna type PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement MONDO:0007556 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:79397 epidermolysis bullosa simplex 2F, with mottled pigmentation Epidermolysis bullosa simplex with mottled pigmentation -MONDO:0007558 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:25968 benign occipital epilepsy Benign occipital epilepsy +MONDO:0007558 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:25968 self-limited childhood occipital epilepsy Benign occipital epilepsy MONDO:0007560 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:166433 reading seizures Reading seizures MONDO:0007561 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:93308 multiple epiphyseal dysplasia type 1 Multiple epiphyseal dysplasia type 1 MONDO:0007564 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:91414 pilomatrixoma Pilomatrixoma @@ -3954,7 +3954,7 @@ MONDO:0015341 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139414 MONDO:0015342 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139417 acute transverse myelitis Acute transverse myelitis MONDO:0015344 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:139423 idiopathic acute transverse myelitis Idiopathic acute transverse myelitis MONDO:0015345 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139426 perioral myoclonia with absences Perioral myoclonia with absences -MONDO:0015346 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139431 Jeavons syndrome Epilepsy with eyelid myoclonia +MONDO:0015346 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139431 epilepsy with eyelid myoclonia Epilepsy with eyelid myoclonia MONDO:0015347 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139436 multicentric reticulohistiocytosis Multicentric reticulohistiocytosis MONDO:0015348 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139444 leukoencephalopathy with bilateral anterior temporal lobe cysts Leukoencephalopathy with bilateral anterior temporal lobe cysts MONDO:0015349 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:139447 progressive cavitating leukoencephalopathy Progressive cavitating leukoencephalopathy @@ -8163,8 +8163,8 @@ MONDO:0020302 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Or MONDO:0020303 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:0020304 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98797 isochromosomy Yp Isochromosomy Yp MONDO:0020305 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98798 isochromosomy Yq Isochromosomy Yq -MONDO:0020307 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98815 benign childhood occipital epilepsy, Panayiotopoulos type Benign childhood occipital epilepsy, Panayiotopoulos type -MONDO:0020308 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98816 benign childhood occipital epilepsy, Gastaut type Benign childhood occipital epilepsy, Gastaut type +MONDO:0020307 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98815 self-limited epilepsy with autonomic seizures Benign childhood occipital epilepsy, Panayiotopoulos type +MONDO:0020308 http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder Orphanet:98816 childhood occipital visual epilepsy Benign childhood occipital epilepsy, Gastaut type MONDO:0020310 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98820 familial focal epilepsy with variable foci Familial focal epilepsy with variable foci MONDO:0020311 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98823 chronic myelomonocytic leukemia Chronic myelomonocytic leukemia MONDO:0020313 http://purl.obolibrary.org/obo/mondo#ordo_disorder Orphanet:98825 obsolete unclassified myelodysplastic/myeloproliferative disease Unclassified myelodysplastic/myeloproliferative disease diff --git a/src/ontology/imports/omo_import.owl b/src/ontology/imports/omo_import.owl index 513b86e1..5298b069 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 "2024-10-04") +Annotation(owl:versionInfo "2024-11-09") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/imports/ro_import.owl b/src/ontology/imports/ro_import.owl index affb3f5c..6fd95a44 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 "2024-10-04") +Annotation(owl:versionInfo "2024-11-09") Declaration(Class()) Declaration(Class()) diff --git a/src/ontology/lexmatch/README.md b/src/ontology/lexmatch/README.md index b88fb43f..fd119cf5 100644 --- a/src/ontology/lexmatch/README.md +++ b/src/ontology/lexmatch/README.md @@ -3,8 +3,8 @@ * 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): 44 - * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 31 + * Number of mappings in [`unmapped_doid_lex`](unmapped_doid_lex.tsv): 63 + * Number of mappings in [`unmapped_doid_lex_exact`](unmapped_doid_lex.tsv): 43 * Number of mappings in [`unmapped_doid_mondo`](mondo-only/unmapped_doid_mondo.tsv): 30 * Number of mappings in [`unmapped_doid_mondo_exact`](mondo-only/unmapped_doid_mondo.tsv): 30 * Number of mappings in [`unmapped_icd10cm_lex`](unmapped_icd10cm_lex.tsv): 2378 @@ -32,26 +32,27 @@ * Number of mappings in [`unmapped_ordo_mondo`](mondo-only/unmapped_ordo_mondo.tsv): 865 * Number of mappings in [`unmapped_ordo_mondo_exact`](mondo-only/unmapped_ordo_mondo.tsv): 865 ## mondo_XXXXmatch_ontology + * 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): 1651 + * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 62 + * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 + * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 712 * Number of mappings in [`mondo_broadmatch_ncit`](split-mapping-set/mondo_broadmatch_ncit.tsv): 82 * Number of mappings in [`mondo_closematch_ncit`](split-mapping-set/mondo_closematch_ncit.tsv): 385 - * Number of mappings in [`mondo_exactmatch_ncit`](split-mapping-set/mondo_exactmatch_ncit.tsv): 712 - * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 7 - * 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): 1708 - * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6085 + * Number of mappings in [`mondo_exactmatch_orphanet`](split-mapping-set/mondo_exactmatch_orphanet.tsv): 864 + * Number of mappings in [`mondo_closematch_orphanet`](split-mapping-set/mondo_closematch_orphanet.tsv): 14 + * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 124 + * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 2 * Number of mappings in [`mondo_narrowmatch_doid`](split-mapping-set/mondo_narrowmatch_doid.tsv): 4 + * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 91 * Number of mappings in [`mondo_broadmatch_doid`](split-mapping-set/mondo_broadmatch_doid.tsv): 1 - * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 196 - * Number of mappings in [`mondo_exactmatch_doid`](split-mapping-set/mondo_exactmatch_doid.tsv): 72 - * Number of mappings in [`mondo_closematch_omim`](split-mapping-set/mondo_closematch_omim.tsv): 2 - * Number of mappings in [`mondo_exactmatch_omim`](split-mapping-set/mondo_exactmatch_omim.tsv): 124 - * Number of mappings in [`mondo_narrowmatch_icd10who`](split-mapping-set/mondo_narrowmatch_icd10who.tsv): 221 - * Number of mappings in [`mondo_broadmatch_icd10who`](split-mapping-set/mondo_broadmatch_icd10who.tsv): 62 - * Number of mappings in [`mondo_closematch_icd10who`](split-mapping-set/mondo_closematch_icd10who.tsv): 328 - * Number of mappings in [`mondo_exactmatch_icd10who`](split-mapping-set/mondo_exactmatch_icd10who.tsv): 1651 + * Number of mappings in [`mondo_closematch_doid`](split-mapping-set/mondo_closematch_doid.tsv): 270 * Number of mappings in [`mondo_narrowmatch_icd10cm`](split-mapping-set/mondo_narrowmatch_icd10cm.tsv): 463 - * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 114 - * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6228 * Number of mappings in [`mondo_exactmatch_icd10cm`](split-mapping-set/mondo_exactmatch_icd10cm.tsv): 2379 - * 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): 864 + * Number of mappings in [`mondo_broadmatch_icd10cm`](split-mapping-set/mondo_broadmatch_icd10cm.tsv): 114 + * Number of mappings in [`mondo_closematch_icd10cm`](split-mapping-set/mondo_closematch_icd10cm.tsv): 6229 + * Number of mappings in [`mondo_exactmatch_icd11.foundation`](split-mapping-set/mondo_exactmatch_icd11.foundation.tsv): 6085 + * 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): 1710 + * Number of mappings in [`mondo_exactmatch_omimps`](split-mapping-set/mondo_exactmatch_omimps.tsv): 7 + * Number of mappings in [`mondo_closematch_omimps`](split-mapping-set/mondo_closematch_omimps.tsv): 2 diff --git a/src/ontology/lexmatch/all_exact.robot.tsv b/src/ontology/lexmatch/all_exact.robot.tsv index 77e32314..39b621ea 100644 --- a/src/ontology/lexmatch/all_exact.robot.tsv +++ b/src/ontology/lexmatch/all_exact.robot.tsv @@ -508,14 +508,21 @@ MONDO:0005676 MONDO:equivalentTo DOID:5154 borna disease borna disease semapv:Le MONDO:0007744 MONDO:equivalentTo DOID:0111368 cholesterol-ester transfer protein deficiency cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency MONDO:0009297 MONDO:equivalentTo DOID:0070613 familial renal glucosuria familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch mesh:d006030 MONDO:0009297 MONDO:equivalentTo DOID:0070613 familial renal glucosuria familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:233100 +MONDO:0012252 MONDO:equivalentTo DOID:0070618 rhabdoid tumor predisposition syndrome 1 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:609322 +MONDO:0013224 MONDO:equivalentTo DOID:0060997 rhabdoid tumor predisposition syndrome 2 rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:613325 MONDO:0013815 MONDO:equivalentTo DOID:0060992 bent bone dysplasia syndrome 1 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:614592 MONDO:0014406 MONDO:equivalentTo DOID:0060988 pancreatic agenesis 2 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:615935 MONDO:0014905 MONDO:equivalentTo DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617086 +MONDO:0024547 MONDO:equivalentTo DOID:0061003 pancreatic agenesis 1 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:260370 MONDO:0030770 MONDO:equivalentTo DOID:0060990 congenital disorder of deglycosylation 2 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619775 MONDO:0031376 MONDO:equivalentTo DOID:0060991 congenital disorder of deglycosylation congenital disorder of deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation MONDO:0100297 MONDO:equivalentTo DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:617877 MONDO:0859224 MONDO:equivalentTo DOID:0070600 intellectual disability and myopathy syndrome intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:619719 MONDO:0859573 MONDO:equivalentTo DOID:0060993 bent bone dysplasia syndrome 2 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620076 +MONDO:0958179 MONDO:equivalentTo DOID:0070616 glycine encephalopathy 1 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:605899 +MONDO:0958181 MONDO:equivalentTo DOID:0070619 mitochondrial trifunctional protein deficiency 1 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:609015 +MONDO:0958185 MONDO:equivalentTo DOID:0060999 mitochondrial trifunctional protein deficiency 2 mitochondrial trifunctional protein deficiency 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620300 +MONDO:0958192 MONDO:equivalentTo DOID:0061001 glycine encephalopathy 2 glycine encephalopathy 2 semapv:LexicalMatching oaklib 0.9411764705882352 skos:exactMatch skos:exactMatch omim:620398 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/mondo-only/unmapped_omim_mondo.tsv b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv index d137bfe7..a4c77bb2 100644 --- a/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv +++ b/src/ontology/lexmatch/mondo-only/unmapped_omim_mondo.tsv @@ -4,6 +4,7 @@ MONDO:0000049 obsolete invasive pneumococcal disease, recurrent isolated OMIMPS: MONDO:0000218 obsolete preimplantation embryonic lethality OMIMPS:616814 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0000911 obsolete dilated cardiomyopathy 1T OMIM:613740 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0007061 obsolete acylase, cobalt-activated OMIM:102590 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 +MONDO:0007066 adenosine triphosphatase deficiency, anemia due to OMIM:102800 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0007139 obsolete Antipyrine metabolism OMIM:107290 MONDO:equivalentTo antipyrine metabolism semapv:UnspecifiedMatching 0.5 MONDO:0007331 obsolete cleft chin OMIM:119000 MONDO:equivalentTo cleft chin semapv:UnspecifiedMatching 0.5 MONDO:0007347 obsolete Coxsackievirus B3 susceptibility OMIM:120050 MONDO:equivalentTo coxsackievirus b3 susceptibility semapv:UnspecifiedMatching 0.5 @@ -61,7 +62,6 @@ MONDO:0013799 obsolete efavirenz, poor metabolism of OMIM:614546 MONDO:equivalen MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of OMIM:615121 MONDO:equivalentTo stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching 0.5 MONDO:0014330 obsolete eculizumab, poor response to OMIM:615749 MONDO:equivalentTo eculizumab, poor response to semapv:UnspecifiedMatching 0.5 MONDO:0014763 obsolete Bombay phenotype OMIM:616754 MONDO:equivalentTo bombay phenotype semapv:UnspecifiedMatching 0.5 -MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency OMIM:616903 MONDO:equivalentTo thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching 0.5 MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 OMIM:616958 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 MONDO:0014978 obsolete preimplantation embryonic lethality 2 OMIM:617234 MONDO:equivalentTo oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching 0.5 MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency OMIM:615057 MONDO:equivalentTo semapv:UnspecifiedMatching 0.5 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 18e746c3..7a19043b 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_doid.tsv @@ -53,6 +53,8 @@ MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial re MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:233100 LEXMATCH MONDO:0009297 familial renal glucosuria skos:closeMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:233100 LEXMATCH MONDO:0009727 atelosteogenesis type II skos:closeMatch DOID:14687 diastrophic dysplasia semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref icd10cm:q77.5 LEXMATCH +MONDO:0009832 pancreatic agenesis skos:closeMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym pancreatic agenesis type 1 LEXMATCH +MONDO:0009832 pancreatic agenesis skos:closeMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label pancreatic agenesis type 1 LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:4552 LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:264350 LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:264350 LEXMATCH @@ -62,6 +64,21 @@ MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:closeM MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:276950 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:276950 LEXMATCH MONDO:0010172 VACTERL with hydrocephalus skos:closeMatch DOID:14679 VACTERL association semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:276950 LEXMATCH +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch DOID:0070618 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609322 LEXMATCH +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch DOID:0070618 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:609322 LEXMATCH +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch DOID:0070618 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609322 LEXMATCH +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch DOID:0070618 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:609322 LEXMATCH +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:closeMatch DOID:0070618 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:609322 LEXMATCH +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch DOID:0061004 poor metabolism of thiopurines 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:610460 LEXMATCH +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch DOID:0061004 poor metabolism of thiopurines 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:610460 LEXMATCH +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch DOID:0061004 poor metabolism of thiopurines 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:610460 LEXMATCH +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch DOID:0061004 poor metabolism of thiopurines 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:610460 LEXMATCH +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:closeMatch DOID:0061004 poor metabolism of thiopurines 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:610460 LEXMATCH +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch DOID:0060997 rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:613325 LEXMATCH +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch DOID:0060997 rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:613325 LEXMATCH +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch DOID:0060997 rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:613325 LEXMATCH +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch DOID:0060997 rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:613325 LEXMATCH +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:closeMatch DOID:0060997 rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:613325 LEXMATCH MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614592 LEXMATCH MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614592 LEXMATCH MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614592 LEXMATCH @@ -70,28 +87,52 @@ MONDO:0013815 bent bone dysplasia syndrome 1 skos:closeMatch DOID:0060992 bent b MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614613 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614613 LEXMATCH MONDO:0013822 acrodysostosis 2 with or without hormone resistance skos:closeMatch DOID:14669 acrodysostosis semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614613 LEXMATCH +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:17486 LEXMATCH +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:614878 LEXMATCH +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch gard:17486 LEXMATCH +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:614878 LEXMATCH +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:614878 LEXMATCH +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:614878 LEXMATCH +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:closeMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:614878 LEXMATCH MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:615935 LEXMATCH MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:615935 LEXMATCH MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:615935 LEXMATCH MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:615935 LEXMATCH MONDO:0014406 pancreatic agenesis 2 skos:closeMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:615935 LEXMATCH +MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch DOID:0060998 striatal degeneration 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:616922 LEXMATCH +MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch DOID:0060998 striatal degeneration 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:616922 LEXMATCH +MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch DOID:0060998 striatal degeneration 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:616922 LEXMATCH +MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch DOID:0060998 striatal degeneration 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:616922 LEXMATCH +MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:closeMatch DOID:0060998 striatal degeneration 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:616922 LEXMATCH MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617086 LEXMATCH MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617086 LEXMATCH MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617086 LEXMATCH MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:617086 LEXMATCH MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:closeMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:617086 LEXMATCH +MONDO:0016473 familial rhabdoid tumor skos:closeMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omimps:609322 LEXMATCH +MONDO:0016473 familial rhabdoid tumor skos:closeMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omimps:609322 LEXMATCH +MONDO:0016473 familial rhabdoid tumor skos:closeMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omimps:609322 LEXMATCH +MONDO:0016473 familial rhabdoid tumor skos:closeMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omimps:609322 LEXMATCH +MONDO:0016473 familial rhabdoid tumor skos:closeMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omimps:609322 LEXMATCH MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d005693 LEXMATCH MONDO:0018116 galactosemia skos:closeMatch DOID:14695 galactokinase deficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d005693 LEXMATCH MONDO:0018638 pseudohypoaldosteronism skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d011546 LEXMATCH MONDO:0018638 pseudohypoaldosteronism skos:closeMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d011546 LEXMATCH MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d004476 LEXMATCH MONDO:0019287 ectodermal dysplasia syndrome skos:closeMatch DOID:14693 Clouston syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d004476 LEXMATCH +MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym rhabdoid tumor predisposition syndrome LEXMATCH +MONDO:0020560 atypical teratoid rhabdoid tumor skos:closeMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label rhabdoid tumor predisposition syndrome LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:180860 LEXMATCH MONDO:0020796 Silver-Russell syndrome 1 skos:closeMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:180860 LEXMATCH MONDO:0024542 cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 skos:closeMatch DOID:0070564 dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasRelatedSynonym dysequilibrium syndrome LEXMATCH +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:260370 LEXMATCH +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:260370 LEXMATCH +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:260370 LEXMATCH +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:260370 LEXMATCH +MONDO:0024547 pancreatic agenesis 1 skos:closeMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:260370 LEXMATCH MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619500 LEXMATCH MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619500 LEXMATCH MONDO:0030549 hearing loss, autosomal dominant 81 skos:closeMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619500 LEXMATCH @@ -117,6 +158,11 @@ MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060 MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619775 LEXMATCH MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619775 LEXMATCH MONDO:0030770 congenital disorder of deglycosylation 2 skos:closeMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619775 LEXMATCH +MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:closeMatch DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619840 LEXMATCH +MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:closeMatch DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619840 LEXMATCH +MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:closeMatch DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619840 LEXMATCH +MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:closeMatch DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:619840 LEXMATCH +MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:closeMatch DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:619840 LEXMATCH MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:619274 LEXMATCH MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:619274 LEXMATCH MONDO:0030998 hearing loss, autosomal dominant 80 skos:closeMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:619274 LEXMATCH @@ -132,6 +178,9 @@ MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 a MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:618533 LEXMATCH MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:618533 LEXMATCH MONDO:0032802 hearing loss, autosomal dominant 37 skos:closeMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:618533 LEXMATCH +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch DOID:0050457 Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref gard:8406 LEXMATCH +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch DOID:0050457 Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref mesh:d054331 LEXMATCH +MONDO:0056795 X-linked spermatogenic failure 1 skos:closeMatch DOID:0050457 Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref mesh:d054331 LEXMATCH MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:617877 LEXMATCH MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:617877 LEXMATCH MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 skos:closeMatch DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:617877 LEXMATCH @@ -186,6 +235,31 @@ MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease s MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch oio:hasDbXref mesh:d001890 LEXMATCH MONDO:0957421 borna virus encephalitis skos:closeMatch DOID:5154 borna disease semapv:LexicalMatching oaklib 0.5 skos:relatedMatch skos:exactMatch mesh:d001890 LEXMATCH +MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:closeMatch DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620481 LEXMATCH +MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:closeMatch DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620481 LEXMATCH +MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:closeMatch DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620481 LEXMATCH +MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:closeMatch DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620481 LEXMATCH +MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:closeMatch DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620481 LEXMATCH +MONDO:0958179 glycine encephalopathy 1 skos:closeMatch DOID:0070616 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:605899 LEXMATCH +MONDO:0958179 glycine encephalopathy 1 skos:closeMatch DOID:0070616 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:605899 LEXMATCH +MONDO:0958179 glycine encephalopathy 1 skos:closeMatch DOID:0070616 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:605899 LEXMATCH +MONDO:0958179 glycine encephalopathy 1 skos:closeMatch DOID:0070616 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:605899 LEXMATCH +MONDO:0958179 glycine encephalopathy 1 skos:closeMatch DOID:0070616 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:605899 LEXMATCH +MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:closeMatch DOID:0070619 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:609015 LEXMATCH +MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:closeMatch DOID:0070619 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:609015 LEXMATCH +MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:closeMatch DOID:0070619 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:609015 LEXMATCH +MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:closeMatch DOID:0070619 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:609015 LEXMATCH +MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:closeMatch DOID:0070619 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:609015 LEXMATCH +MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:closeMatch DOID:0060999 mitochondrial trifunctional protein deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620300 LEXMATCH +MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:closeMatch DOID:0060999 mitochondrial trifunctional protein deficiency 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620300 LEXMATCH +MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:closeMatch DOID:0060999 mitochondrial trifunctional protein deficiency 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620300 LEXMATCH +MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:closeMatch DOID:0060999 mitochondrial trifunctional protein deficiency 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620300 LEXMATCH +MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:closeMatch DOID:0060999 mitochondrial trifunctional protein deficiency 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620300 LEXMATCH +MONDO:0958192 glycine encephalopathy 2 skos:closeMatch DOID:0061001 glycine encephalopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620398 LEXMATCH +MONDO:0958192 glycine encephalopathy 2 skos:closeMatch DOID:0061001 glycine encephalopathy 2 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620398 LEXMATCH +MONDO:0958192 glycine encephalopathy 2 skos:closeMatch DOID:0061001 glycine encephalopathy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620398 LEXMATCH +MONDO:0958192 glycine encephalopathy 2 skos:closeMatch DOID:0061001 glycine encephalopathy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE oio:hasDbXref omim:620398 LEXMATCH +MONDO:0958192 glycine encephalopathy 2 skos:closeMatch DOID:0061001 glycine encephalopathy 2 semapv:LexicalMatching oaklib 0.5 skos:exactMatch-INVERSE skos:exactMatch omim:620398 LEXMATCH MONDO:0958232 hearing loss, autosomal dominant 90 skos:closeMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref omim:620722 LEXMATCH MONDO:0958232 hearing loss, autosomal dominant 90 skos:closeMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.5 oio:hasDbXref skos:exactMatch omim:620722 LEXMATCH MONDO:0958232 hearing loss, autosomal dominant 90 skos:closeMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref omim:620722 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv index 2ca33c87..db77069a 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd10cm.tsv @@ -6223,6 +6223,7 @@ MONDO:0850223 Libman-Sacks endocarditis skos:closeMatch ICD10CM:M32.11 Endocardi MONDO:0850223 Libman-Sacks endocarditis skos:closeMatch ICD10CM:M32.11 Endocarditis in systemic lupus erythematosus semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:0080740 LEXMATCH MONDO:0851100 malignant olfactory nerve neoplasm skos:closeMatch ICD10CM:C72.2 Malignant neoplasm of olfactory nerve semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:370 LEXMATCH MONDO:0851100 malignant olfactory nerve neoplasm skos:closeMatch ICD10CM:C72.2 Malignant neoplasm of olfactory nerve semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:370 LEXMATCH +MONDO:1012922 centronuclear myopathy, DNM2-related, dog skos:closeMatch ICD10CM:G71.228 Other centronuclear myopathy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant centronuclear myopathy LEXMATCH MONDO:1030008 mitral valve insufficiency skos:closeMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.5 oio:hasDbXref oio:hasDbXref-INVERSE doid:11502 LEXMATCH MONDO:1030008 mitral valve insufficiency skos:closeMatch ICD10CM:Q23.3 Congenital mitral insufficiency semapv:LexicalMatching oaklib 0.5 skos:exactMatch oio:hasDbXref-INVERSE doid:11502 LEXMATCH MONDO:1030010 precerebral artery stenosis skos:closeMatch ICD10CM:I65 Occlusion and stenosis of precerebral arteries, not resulting in cerebral infarction semapv:LexicalMatching oaklib 0.5 rdf:ID oio:hasDbXref-INVERSE mondo:1030010 LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv index dab3af79..b3d100c6 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_icd11.foundation.tsv @@ -1703,6 +1703,8 @@ MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch ic MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch icd11.foundation:1574637700 CACH syndrome semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label cach syndrome LEXMATCH MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch icd11.foundation:1823072890 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym ovarioleukodystrophy LEXMATCH MONDO:0800448 leukoencephalopathy with vanishing white matter skos:closeMatch icd11.foundation:1823072890 Ovarioleukodystrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label ovarioleukodystrophy LEXMATCH +MONDO:1012790 cataract, CPAMD8-related, cattle skos:closeMatch icd11.foundation:1556158071 Morgagnian age-related cataract semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym morgagnian cataract LEXMATCH +MONDO:1012922 centronuclear myopathy, DNM2-related, dog skos:closeMatch icd11.foundation:629192160 Centronuclear myopathy with type I fibre hypotrophy semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym autosomal dominant centronuclear myopathy LEXMATCH MONDO:1030008 mitral valve insufficiency skos:closeMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym congenital insufficiency of mitral valve LEXMATCH MONDO:1030008 mitral valve insufficiency skos:closeMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym congenital mitral insufficiency LEXMATCH MONDO:1030008 mitral valve insufficiency skos:closeMatch icd11.foundation:403917903 Congenital mitral regurgitation semapv:LexicalMatching oaklib 0.5 oio:hasNarrowSynonym oio:hasExactSynonym congenital mitral regurgitation LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv new file mode 100644 index 00000000..e8d8a767 --- /dev/null +++ b/src/ontology/lexmatch/split-mapping-set/mondo_closematch_omimps.tsv @@ -0,0 +1,3 @@ +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:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIMPS:219080 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym oio:hasExactSynonym acth-independent macronodular adrenal hyperplasia LEXMATCH +MONDO:0020735 ACTH-independent macronodular adrenal hyperplasia 1 skos:closeMatch OMIMPS:219080 ACTH-independent macronodular adrenal hyperplasia semapv:LexicalMatching oaklib 0.5 oio:hasRelatedSynonym rdfs:label acth-independent macronodular adrenal hyperplasia 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 f1eb666e..e05fac60 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_doid.tsv @@ -32,27 +32,41 @@ MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium sko MONDO:0009297 familial renal glucosuria skos:exactMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d006030 LEXMATCH MONDO:0009297 familial renal glucosuria skos:exactMatch DOID:0070613 familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:233100 LEXMATCH MONDO:0009669 spinal muscular atrophy, type 1 skos:exactMatch DOID:0060160 childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy LEXMATCH +MONDO:0009832 pancreatic agenesis skos:exactMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic agenesis type 1 LEXMATCH +MONDO:0009832 pancreatic agenesis skos:exactMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic agenesis type 1 LEXMATCH MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive skos:exactMatch DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:264350 LEXMATCH MONDO:0012144 Waardenburg syndrome type 2D skos:exactMatch DOID:0110952 obsolete Waardenburg syndrome type 2D semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 skos:exactMatch DOID:0070618 rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609322 LEXMATCH +MONDO:0012503 thiopurine S-methyltransferase deficiency skos:exactMatch DOID:0061004 poor metabolism of thiopurines 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610460 LEXMATCH +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 skos:exactMatch DOID:0060997 rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613325 LEXMATCH MONDO:0013815 bent bone dysplasia syndrome 1 skos:exactMatch DOID:0060992 bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614592 LEXMATCH +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation skos:exactMatch DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614878 LEXMATCH MONDO:0014406 pancreatic agenesis 2 skos:exactMatch DOID:0060988 pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615935 LEXMATCH +MONDO:0014835 striatal degeneration, autosomal dominant 2 skos:exactMatch DOID:0060998 striatal degeneration 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616922 LEXMATCH MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 skos:exactMatch DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617086 LEXMATCH +MONDO:0016473 familial rhabdoid tumor skos:exactMatch DOID:0070617 rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:609322 LEXMATCH MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch DOID:0070614 chromosome 11 partial duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome type 11 LEXMATCH MONDO:0016932 partial duplication of chromosome 11 skos:exactMatch DOID:0070614 chromosome 11 partial duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial duplication of chromosome type 11 LEXMATCH MONDO:0017841 obsolete autoimmune disease with skin involvement skos:exactMatch DOID:0060039 autoimmune disease of skin and connective tissue semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020796 Silver-Russell syndrome 1 skos:exactMatch DOID:14681 Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 LEXMATCH MONDO:0021199 obsolete disease by anatomical system skos:exactMatch DOID:7 disease of anatomical entity semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0021668 obsolete disorder involving pain skos:exactMatch DOID:0060164 pain disorder semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0024547 pancreatic agenesis 1 skos:exactMatch DOID:0061003 pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:260370 LEXMATCH MONDO:0024657 obsolete macrocystic neurilemmoma skos:exactMatch DOID:3203 macrocystic neurilemmoma semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0030549 hearing loss, autosomal dominant 81 skos:exactMatch DOID:0070608 autosomal dominant nonsyndromic deafness 81 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619500 LEXMATCH MONDO:0030719 hearing loss, autosomal dominant 82 skos:exactMatch DOID:0070603 autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619804 LEXMATCH MONDO:0030723 hearing loss, autosomal dominant 83 skos:exactMatch DOID:0070609 autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619808 LEXMATCH MONDO:0030724 hearing loss, autosomal dominant 84 skos:exactMatch DOID:0070604 autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619810 LEXMATCH MONDO:0030770 congenital disorder of deglycosylation 2 skos:exactMatch DOID:0060990 congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619775 LEXMATCH +MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant skos:exactMatch DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619840 LEXMATCH MONDO:0030998 hearing loss, autosomal dominant 80 skos:exactMatch DOID:0070602 autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619274 LEXMATCH MONDO:0031057 dyskeratosis congenita, digenic skos:exactMatch DOID:0060984 digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620040 LEXMATCH MONDO:0031376 congenital disorder of deglycosylation skos:exactMatch DOID:0060991 congenital disorder of deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation LEXMATCH MONDO:0032802 hearing loss, autosomal dominant 37 skos:exactMatch DOID:0070601 autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618533 LEXMATCH +MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch DOID:0050457 Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del castillo syndrome LEXMATCH +MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch DOID:0050457 Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germinal cell aplasia LEXMATCH +MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch DOID:0050457 Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sertoli cell-only syndrome LEXMATCH +MONDO:0056795 X-linked spermatogenic failure 1 skos:exactMatch DOID:0050457 Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sertoli cell-only syndrome LEXMATCH MONDO:0100140 obsolete mild COVID-19 infection skos:exactMatch DOID:0081014 non-severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0100142 obsolete severe COVID-19 infection skos:exactMatch DOID:0081013 severe COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0100143 obsolete critical COVID-19 infection skos:exactMatch DOID:0081012 critical COVID-19 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -70,4 +84,9 @@ MONDO:0859525 hearing loss, autosomal dominant 87 skos:exactMatch DOID:0070606 a MONDO:0859527 hearing loss, autosomal dominant 88 skos:exactMatch DOID:0070611 autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620283 LEXMATCH MONDO:0859528 hearing loss, autosomal dominant 89 skos:exactMatch DOID:0070612 autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620284 LEXMATCH MONDO:0859573 bent bone dysplasia syndrome 2 skos:exactMatch DOID:0060993 bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620076 LEXMATCH +MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 skos:exactMatch DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620481 LEXMATCH +MONDO:0958179 glycine encephalopathy 1 skos:exactMatch DOID:0070616 glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:605899 LEXMATCH +MONDO:0958181 mitochondrial trifunctional protein deficiency 1 skos:exactMatch DOID:0070619 mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609015 LEXMATCH +MONDO:0958185 mitochondrial trifunctional protein deficiency 2 skos:exactMatch DOID:0060999 mitochondrial trifunctional protein deficiency 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620300 LEXMATCH +MONDO:0958192 glycine encephalopathy 2 skos:exactMatch DOID:0061001 glycine encephalopathy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620398 LEXMATCH MONDO:0958232 hearing loss, autosomal dominant 90 skos:exactMatch DOID:0070607 autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620722 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 21544f84..ba01e823 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 @@ -5445,7 +5445,7 @@ MONDO:0020078 obsolete acute myeloid leukemia with recurrent genetic anomaly sko MONDO:0020143 cerebral lipidosis with dementia skos:exactMatch icd11.foundation:1800046191 Cerebral lipidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral lipidosis LEXMATCH MONDO:0020290 familial atrioventricular septal defect skos:exactMatch icd11.foundation:1069974993 Common atrioventricular junction with atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular septal defect LEXMATCH MONDO:0020296 congenital arteriovenous fistula skos:exactMatch icd11.foundation:585997617 Peripheral arteriovenous malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital arteriovenous fistula LEXMATCH -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type skos:exactMatch icd11.foundation:821291892 Early onset benign occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym panayiotopoulos syndrome LEXMATCH +MONDO:0020307 self-limited epilepsy with autonomic seizures skos:exactMatch icd11.foundation:821291892 Early onset benign occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym panayiotopoulos syndrome LEXMATCH MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease skos:exactMatch icd11.foundation:855969668 Myeloproliferative and myelodysplastic disease, unclassifiable semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:exactMatch icd11.foundation:1939292379 Acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloid leukaemia with t(9;11)(p22;q23); mllt3-mll LEXMATCH MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities skos:exactMatch icd11.foundation:1939292379 Acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukaemia with t(9;11)(p22;q23); mllt3-mll LEXMATCH diff --git a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv index 079a28ca..444aa1e1 100644 --- a/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv +++ b/src/ontology/lexmatch/split-mapping-set/mondo_exactmatch_omim.tsv @@ -1,6 +1,7 @@ subject_id subject_label predicate_id object_id object_label mapping_justification confidence comment MONDO:0000911 obsolete dilated cardiomyopathy 1T skos:exactMatch OMIM:613740 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0007061 obsolete acylase, cobalt-activated skos:exactMatch OMIM:102590 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS +MONDO:0007066 adenosine triphosphatase deficiency, anemia due to skos:exactMatch OMIM:102800 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0007139 obsolete Antipyrine metabolism skos:exactMatch OMIM:107290 antipyrine metabolism semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0007331 obsolete cleft chin skos:exactMatch OMIM:119000 cleft chin semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0007347 obsolete Coxsackievirus B3 susceptibility skos:exactMatch OMIM:120050 coxsackievirus b3 susceptibility semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS @@ -58,7 +59,6 @@ MONDO:0013799 obsolete efavirenz, poor metabolism of skos:exactMatch OMIM:614546 MONDO:0014053 obsolete stomatin-like protein-2, hyperphosphorylation of skos:exactMatch OMIM:615121 stomatin-like protein-2, hyperphosphorylation of semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0014330 obsolete eculizumab, poor response to skos:exactMatch OMIM:615749 eculizumab, poor response to semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0014763 obsolete Bombay phenotype skos:exactMatch OMIM:616754 bombay phenotype semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS -MONDO:0014826 obsolete nucleoside diphosphate-linked moiety X Motif 15 deficiency skos:exactMatch OMIM:616903 thiopurines, poor metabolism of, 2 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0014849 obsolete autosomal recessive nonsyndromic deafness 105 skos:exactMatch OMIM:616958 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0014978 obsolete preimplantation embryonic lethality 2 skos:exactMatch OMIM:617234 oocyte/zygote/embryo maturation arrest 16 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS MONDO:0017996 obsolete blepharophimosis - intellectual disability syndrome due to UBE3B deficiency skos:exactMatch OMIM:615057 semapv:UnspecifiedMatching 0.5 MONDO_MAPPINGS diff --git a/src/ontology/lexmatch/unmapped_doid_lex.tsv b/src/ontology/lexmatch/unmapped_doid_lex.tsv index 4a5e6bc7..729e7632 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex.tsv @@ -7,7 +7,13 @@ MONDO:0008270 polydactyly of a triphalangeal thumb DOID:0060986 MONDO:equivalent MONDO:0008272 polysyndactyly 4 DOID:0060985 MONDO:equivalentTo preaxial polydactyly type IV semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:174700 MONDO:0009133 cerebellar ataxia, intellectual disability, and dysequilibrium DOID:0070564 MONDO:equivalentTo dialysis disequilibrium syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym dialysis dysequilibrium syndrome MONDO:0009669 spinal muscular atrophy, type 1 DOID:0060160 MONDO:equivalentTo childhood spinal muscular atrophy semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym survival motor neuron spinal muscular atrophy +MONDO:0009832 pancreatic agenesis DOID:0061003 MONDO:equivalentTo pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym pancreatic agenesis type 1 +MONDO:0009832 pancreatic agenesis DOID:0061003 MONDO:equivalentTo pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label pancreatic agenesis type 1 MONDO:0009917 pseudohypoaldosteronism, type IB1, autosomal recessive DOID:0060854 MONDO:equivalentTo autosomal recessive pseudohypoaldosteronism type 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:264350 +MONDO:0012503 thiopurine S-methyltransferase deficiency DOID:0061004 MONDO:equivalentTo poor metabolism of thiopurines 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:610460 +MONDO:0013944 autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation DOID:0070615 MONDO:equivalentTo autoinflammation, antibody deficiency, and immune dysregulation syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614878 +MONDO:0014835 striatal degeneration, autosomal dominant 2 DOID:0060998 MONDO:equivalentTo striatal degeneration 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:616922 +MONDO:0016473 familial rhabdoid tumor DOID:0070617 MONDO:equivalentTo rhabdoid tumor predisposition syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omimps:609322 MONDO:0016932 partial duplication of chromosome 11 DOID:0070614 MONDO:equivalentTo chromosome 11 partial duplication syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym partial duplication of chromosome type 11 MONDO:0016932 partial duplication of chromosome 11 DOID:0070614 MONDO:equivalentTo chromosome 11 partial duplication syndrome semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym partial duplication of chromosome type 11 MONDO:0020796 Silver-Russell syndrome 1 DOID:14681 MONDO:equivalentTo Silver-Russell syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:180860 @@ -15,9 +21,14 @@ MONDO:0030549 hearing loss, autosomal dominant 81 DOID:0070608 MONDO:equivalentT MONDO:0030719 hearing loss, autosomal dominant 82 DOID:0070603 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 82 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619804 MONDO:0030723 hearing loss, autosomal dominant 83 DOID:0070609 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 83 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619808 MONDO:0030724 hearing loss, autosomal dominant 84 DOID:0070604 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 84 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619810 +MONDO:0030827 macrothrombocytopenia, isolated, 2, autosomal dominant DOID:0060995 MONDO:equivalentTo autosomal dominant isolated macrothrombocytopenia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619840 MONDO:0030998 hearing loss, autosomal dominant 80 DOID:0070602 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 80 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619274 MONDO:0031057 dyskeratosis congenita, digenic DOID:0060984 MONDO:equivalentTo digenic dyskeratosis congenita semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620040 MONDO:0032802 hearing loss, autosomal dominant 37 DOID:0070601 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 37 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:618533 +MONDO:0056795 X-linked spermatogenic failure 1 DOID:0050457 MONDO:equivalentTo Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym del castillo syndrome +MONDO:0056795 X-linked spermatogenic failure 1 DOID:0050457 MONDO:equivalentTo Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym germinal cell aplasia +MONDO:0056795 X-linked spermatogenic failure 1 DOID:0050457 MONDO:equivalentTo Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym sertoli cell-only syndrome +MONDO:0056795 X-linked spermatogenic failure 1 DOID:0050457 MONDO:equivalentTo Sertoli cell-only syndrome semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label sertoli cell-only syndrome MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cryptogenic fibrosing alveolitis MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym fibrocystic pulmonary dysplasia MONDO:0800029 interstitial lung disease 2 DOID:0050156 MONDO:equivalentTo idiopathic pulmonary fibrosis semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym idiopathic pulmonary fibrosis @@ -29,4 +40,5 @@ MONDO:0859524 hearing loss, autosomal dominant 86 DOID:0070610 MONDO:equivalentT MONDO:0859525 hearing loss, autosomal dominant 87 DOID:0070606 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 87 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620281 MONDO:0859527 hearing loss, autosomal dominant 88 DOID:0070611 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 88 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620283 MONDO:0859528 hearing loss, autosomal dominant 89 DOID:0070612 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 89 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620284 +MONDO:0957575 amegakaryocytic thrombocytopenia, congenital, 2 DOID:0061002 MONDO:equivalentTo congenital amegakaryocytic thrombocytopenia 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620481 MONDO:0958232 hearing loss, autosomal dominant 90 DOID:0070607 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 90 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620722 diff --git a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv index d1d4b7bf..4bf37cf3 100644 --- a/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv +++ b/src/ontology/lexmatch/unmapped_doid_lex_exact.tsv @@ -5,11 +5,18 @@ MONDO:0005676 borna disease DOID:5154 MONDO:equivalentTo borna disease semapv:Le MONDO:0007744 cholesterol-ester transfer protein deficiency DOID:0111368 MONDO:equivalentTo cholesterol-ester transfer protein deficiency semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label cholesterol-ester transfer protein deficiency MONDO:0009297 familial renal glucosuria DOID:0070613 MONDO:equivalentTo familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch mesh:d006030 MONDO:0009297 familial renal glucosuria DOID:0070613 MONDO:equivalentTo familial renal glucosuria semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:233100 +MONDO:0012252 rhabdoid tumor predisposition syndrome 1 DOID:0070618 MONDO:equivalentTo rhabdoid tumor predisposition syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609322 +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 DOID:0060997 MONDO:equivalentTo rhabdoid tumor predisposition syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:613325 MONDO:0013815 bent bone dysplasia syndrome 1 DOID:0060992 MONDO:equivalentTo bent bone dysplasia syndrome 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:614592 MONDO:0014406 pancreatic agenesis 2 DOID:0060988 MONDO:equivalentTo pancreatic agenesis 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:615935 MONDO:0014905 encephalopathy due to defective mitochondrial and peroxisomal fission 2 DOID:0060994 MONDO:equivalentTo encephalopathy due to defective mitochondrial and peroxisomal fission 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617086 +MONDO:0024547 pancreatic agenesis 1 DOID:0061003 MONDO:equivalentTo pancreatic agenesis 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:260370 MONDO:0030770 congenital disorder of deglycosylation 2 DOID:0060990 MONDO:equivalentTo congenital disorder of deglycosylation 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619775 MONDO:0031376 congenital disorder of deglycosylation DOID:0060991 MONDO:equivalentTo congenital disorder of deglycosylation semapv:LexicalMatching oaklib 0.8497788951776651 rdfs:label rdfs:label congenital disorder of deglycosylation MONDO:0100297 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 DOID:0060989 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:617877 MONDO:0859224 intellectual disability and myopathy syndrome DOID:0070600 MONDO:equivalentTo intellectual disability and myopathy syndrome semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:619719 MONDO:0859573 bent bone dysplasia syndrome 2 DOID:0060993 MONDO:equivalentTo bent bone dysplasia syndrome 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620076 +MONDO:0958179 glycine encephalopathy 1 DOID:0070616 MONDO:equivalentTo glycine encephalopathy 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:605899 +MONDO:0958181 mitochondrial trifunctional protein deficiency 1 DOID:0070619 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 1 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:609015 +MONDO:0958185 mitochondrial trifunctional protein deficiency 2 DOID:0060999 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620300 +MONDO:0958192 glycine encephalopathy 2 DOID:0061001 MONDO:equivalentTo glycine encephalopathy 2 semapv:LexicalMatching oaklib 0.9411764705882353 skos:exactMatch skos:exactMatch omim:620398 diff --git a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv index 622f939f..02d41332 100644 --- a/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv +++ b/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv @@ -5226,7 +5226,7 @@ MONDO:0020076 myeloproliferative neoplasm icd11.foundation:804296997 MONDO:equiv MONDO:0020143 cerebral lipidosis with dementia icd11.foundation:1800046191 MONDO:equivalentTo Cerebral lipidoses semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym cerebral lipidosis MONDO:0020290 familial atrioventricular septal defect icd11.foundation:1069974993 MONDO:equivalentTo Common atrioventricular junction with atrioventricular septal defect semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym atrioventricular septal defect MONDO:0020296 congenital arteriovenous fistula icd11.foundation:585997617 MONDO:equivalentTo Peripheral arteriovenous malformations semapv:LexicalMatching oaklib 0.8 rdfs:label oio:hasExactSynonym congenital arteriovenous fistula -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type icd11.foundation:821291892 MONDO:equivalentTo Early onset benign occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym panayiotopoulos syndrome +MONDO:0020307 self-limited epilepsy with autonomic seizures icd11.foundation:821291892 MONDO:equivalentTo Early onset benign occipital epilepsy, Panayiotopoulos type semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym panayiotopoulos syndrome MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities icd11.foundation:1939292379 MONDO:equivalentTo Acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloid leukaemia with t(9;11)(p22;q23); mllt3-mll MONDO:0020317 acute myeloid leukemia with 11q23 abnormalities icd11.foundation:1939292379 MONDO:equivalentTo Acute myeloid leukaemia with t(9;11)(p22;q23); MLLT3-MLL semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym rdfs:label acute myeloid leukaemia with t(9;11)(p22;q23); mllt3-mll MONDO:0020320 acute myeloblastic leukemia with maturation icd11.foundation:1515439945 MONDO:equivalentTo Acute myeloid leukaemia with maturation semapv:LexicalMatching oaklib 0.8 oio:hasExactSynonym oio:hasExactSynonym acute myeloid leukaemia with maturation diff --git a/src/ontology/metadata/doid-metrics.json b/src/ontology/metadata/doid-metrics.json index 987880f3..301f0489 100644 --- a/src/ontology/metadata/doid-metrics.json +++ b/src/ontology/metadata/doid-metrics.json @@ -4,10 +4,10 @@ "abox_axiom_count_incl": 0, "annotation_property_count": 28, "annotation_property_count_incl": 28, - "axiom_count": 133598, - "axiom_count_incl": 133598, - "class_count": 13230, - "class_count_incl": 13230, + "axiom_count": 133759, + "axiom_count_incl": 133759, + "class_count": 13250, + "class_count_incl": 13250, "dataproperty_count": 0, "dataproperty_count_incl": 0, "datatypes_count": 2, @@ -20,13 +20,13 @@ "expressivity_incl": "C", "individual_count": 0, "individual_count_incl": 0, - "logical_axiom_count": 16341, - "logical_axiom_count_incl": 16341, + "logical_axiom_count": 16363, + "logical_axiom_count_incl": 16363, "obj_property_count": 0, "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/2024-10-04/doid.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/doid.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": 13260, - "signature_entity_count_incl": 13260, + "signature_entity_count": 13280, + "signature_entity_count_incl": 13280, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 16341, - "tbox_axiom_count_incl": 16341, - "tboxrbox_axiom_count": 16341, - "tboxrbox_axiom_count_incl": 16341, + "tbox_axiom_count": 16363, + "tbox_axiom_count_incl": 16363, + "tboxrbox_axiom_count": 16363, + "tboxrbox_axiom_count_incl": 16363, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -67,24 +67,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 103998, + "AnnotationAssertion": 104117, "SubAnnotationPropertyOf": 2, "DisjointClasses": 26, - "Declaration": 13257, - "SubClassOf": 16315 + "Declaration": 13277, + "SubClassOf": 16337 }, "axiom_type_count_incl": { - "AnnotationAssertion": 103998, + "AnnotationAssertion": 104117, "SubAnnotationPropertyOf": 2, "DisjointClasses": 26, - "Declaration": 13257, - "SubClassOf": 16315 + "Declaration": 13277, + "SubClassOf": 16337 }, "class_expression_count": { - "Class": 46072 + "Class": 46136 }, "class_expression_count_incl": { - "Class": 46072 + "Class": 46136 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -111,13 +111,13 @@ "dc": "http://purl.org/dc/terms/" }, "namespace_axiom_count": { - "oboInOwl": 78320, + "oboInOwl": 78409, "owl": 2489, - "DOID": 44514, - "HP": 114, - "skos": 6203, + "DOID": 44572, + "HP": 116, + "skos": 6230, "CL": 62, - "rdfs": 19939, + "rdfs": 19959, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, @@ -127,20 +127,20 @@ "rdf": 61, "IAO": 2230, "CHEBI": 90, - "UBERON": 410, + "UBERON": 414, "SO": 17, "obo": 192, "GENO": 10, "dc": 1 }, "namespace_axiom_count_incl": { - "oboInOwl": 78320, + "oboInOwl": 78409, "owl": 2489, - "DOID": 44514, - "HP": 114, - "skos": 6203, + "DOID": 44572, + "HP": 116, + "skos": 6230, "CL": 62, - "rdfs": 19939, + "rdfs": 19959, "FOODON": 24, "NCBITaxon": 322, "TRANS": 13, @@ -150,7 +150,7 @@ "rdf": 61, "IAO": 2230, "CHEBI": 90, - "UBERON": 410, + "UBERON": 414, "SO": 17, "obo": 192, "GENO": 10, @@ -159,8 +159,8 @@ "namespace_entity_count": { "oboInOwl": 12, "owl": 2, - "DOID": 11672, - "HP": 114, + "DOID": 11686, + "HP": 116, "xsd": 1, "CL": 62, "skos": 5, @@ -174,7 +174,7 @@ "rdf": 1, "CHEBI": 90, "IAO": 2, - "UBERON": 410, + "UBERON": 414, "SO": 17, "obo": 191, "GENO": 10, @@ -183,8 +183,8 @@ "namespace_entity_count_incl": { "oboInOwl": 12, "owl": 2, - "DOID": 11672, - "HP": 114, + "DOID": 11686, + "HP": 116, "xsd": 1, "CL": 62, "skos": 5, @@ -198,7 +198,7 @@ "rdf": 1, "CHEBI": 90, "IAO": 2, - "UBERON": 410, + "UBERON": 414, "SO": 17, "obo": 191, "GENO": 10, diff --git a/src/ontology/metadata/gard-metrics.json b/src/ontology/metadata/gard-metrics.json index 842a38bd..ff94e1f7 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/2024-10-04/gard.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/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 da4ce8b7..f2f1f648 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/2024-10-04/icd10cm.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/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 fcd3edb3..bd0c0e6e 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/2024-10-04/icd10who.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/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 02bd09c5..4581d14c 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/2024-10-04/icd11foundation.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/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 d4c49824..37358b5f 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/2024-10-04/ncit.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/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 a6f17c29..058c99e8 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": 21, "annotation_property_count_incl": 21, - "axiom_count": 355754, - "axiom_count_incl": 355754, - "class_count": 22976, - "class_count_incl": 22976, + "axiom_count": 356115, + "axiom_count_incl": 356115, + "class_count": 23005, + "class_count_incl": 23005, "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": 26248, - "logical_axiom_count_incl": 26248, + "logical_axiom_count": 26262, + "logical_axiom_count_incl": 26262, "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/2024-10-04/omim.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/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": 23006, - "signature_entity_count_incl": 23006, + "signature_entity_count": 23035, + "signature_entity_count_incl": 23035, "syntax": "RDF/XML Syntax", - "tbox_axiom_count": 26248, - "tbox_axiom_count_incl": 26248, - "tboxrbox_axiom_count": 26248, - "tboxrbox_axiom_count_incl": 26248, + "tbox_axiom_count": 26262, + "tbox_axiom_count_incl": 26262, + "tboxrbox_axiom_count": 26262, + "tboxrbox_axiom_count_incl": 26262, "axiom_types": [ "AnnotationAssertion", "SubAnnotationPropertyOf", @@ -65,24 +65,24 @@ "valid_imports": [], "valid_imports_incl": [], "axiom_type_count": { - "AnnotationAssertion": 306504, + "AnnotationAssertion": 306822, "SubAnnotationPropertyOf": 2, - "Declaration": 23000, - "SubClassOf": 26248 + "Declaration": 23029, + "SubClassOf": 26262 }, "axiom_type_count_incl": { - "AnnotationAssertion": 306504, + "AnnotationAssertion": 306822, "SubAnnotationPropertyOf": 2, - "Declaration": 23000, - "SubClassOf": 26248 + "Declaration": 23029, + "SubClassOf": 26262 }, "class_expression_count": { - "Class": 75462, - "ObjectSomeValuesFrom": 21276 + "Class": 75522, + "ObjectSomeValuesFrom": 21301 }, "class_expression_count_incl": { - "Class": 75462, - "ObjectSomeValuesFrom": 21276 + "Class": 75522, + "ObjectSomeValuesFrom": 21301 }, "curie_map": { "oboInOwl": "http://www.geneontology.org/formats/oboInOwl#", @@ -100,43 +100,43 @@ "obo": "http://purl.obolibrary.org/obo/" }, "namespace_axiom_count": { - "prefix_unknown": 98366, - "oboInOwl": 114984, - "owl": 1366, - "skos": 82341, - "rdfs": 40215, - "CHR": 7589, + "prefix_unknown": 98443, + "oboInOwl": 115152, + "owl": 1367, + "skos": 82432, + "rdfs": 40275, + "CHR": 7586, "OMO": 1, - "MONDO": 19133, - "rdf": 21069, - "IAO": 55207, - "biolink": 37051, - "RO": 21283, - "obo": 2345 + "MONDO": 19156, + "rdf": 21094, + "IAO": 55208, + "biolink": 37110, + "RO": 21308, + "obo": 2346 }, "namespace_axiom_count_incl": { - "prefix_unknown": 98366, - "oboInOwl": 114984, - "owl": 1366, - "skos": 82341, - "rdfs": 40215, - "CHR": 7589, + "prefix_unknown": 98443, + "oboInOwl": 115152, + "owl": 1367, + "skos": 82432, + "rdfs": 40275, + "CHR": 7586, "OMO": 1, - "MONDO": 19133, - "rdf": 21069, - "IAO": 55207, - "biolink": 37051, - "RO": 21283, - "obo": 2345 + "MONDO": 19156, + "rdf": 21094, + "IAO": 55208, + "biolink": 37110, + "RO": 21308, + "obo": 2346 }, "namespace_entity_count": { - "prefix_unknown": 21534, + "prefix_unknown": 21566, "oboInOwl": 4, "owl": 2, "xsd": 1, "skos": 1, "rdfs": 2, - "CHR": 1445, + "CHR": 1442, "OMO": 1, "MONDO": 1, "rdf": 1, @@ -146,13 +146,13 @@ "obo": 3 }, "namespace_entity_count_incl": { - "prefix_unknown": 21534, + "prefix_unknown": 21566, "oboInOwl": 4, "owl": 2, "xsd": 1, "skos": 1, "rdfs": 2, - "CHR": 1445, + "CHR": 1442, "OMO": 1, "MONDO": 1, "rdf": 1, diff --git a/src/ontology/metadata/ordo-metrics.json b/src/ontology/metadata/ordo-metrics.json index 05b921f0..784436ac 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/2024-10-04/ordo.owl", + "ontology_version_iri": "http://purl.obolibrary.org/obo/mondo/sources/2024-11-09/ordo.owl", "owl2": true, "owl2_dl": true, "owl2_el": true, diff --git a/src/ontology/mondo-ingest.Makefile b/src/ontology/mondo-ingest.Makefile index 81df48f5..ee94f8fc 100644 --- a/src/ontology/mondo-ingest.Makefile +++ b/src/ontology/mondo-ingest.Makefile @@ -20,7 +20,7 @@ SKIP_HUGE=false #################################### .PHONY: pip-% pip-%: - python3 -m pip install --upgrade $* + python3 -m pip install --upgrade $* --break-system-packages .PHONY: dependencies dependencies: pip-pip pip-setuptools pip-oaklib pip-sssom pip-semsql @@ -323,7 +323,7 @@ $(DOCS_DIR)/sources/ $(DOCS_DIR)/metrics/ $(MAPPINGSDIR)/: mkdir -p $@ $(DOCS_DIR)/sources/%.md: metadata/%.yml | $(DOCS_DIR)/sources/ - j2 "$(SOURCE_DOC_TEMPLATE)" $< > $@ + jinjanate "$(SOURCE_DOC_TEMPLATE)" $< > $@ PREFIXES_METRICS=--prefix 'OMIM: http://omim.org/entry/' \ --prefix 'CHR: http://purl.obolibrary.org/obo/CHR_' \ @@ -336,14 +336,10 @@ metadata/%-metrics.json: $(COMPONENTSDIR)/%.owl .PRECIOUS: metadata/%-metrics.json $(DOCS_DIR)/metrics/%.md: metadata/%-metrics.json | $(DOCS_DIR)/metrics/ - j2 "$(SOURCE_METRICS_TEMPLATE)" metadata/$*-metrics.json > $@ - -.PHONY: j2 -j2: - pip install j2cli j2cli[yaml] + jinjanate "$(SOURCE_METRICS_TEMPLATE)" metadata/$*-metrics.json > $@ .PHONY: documentation -documentation: j2 $(ALL_DOCS) unmapped-terms-docs mapped-deprecated-terms-docs slurp-docs +documentation: $(ALL_DOCS) unmapped-terms-docs mapped-deprecated-terms-docs slurp-docs .PHONY: build-mondo-ingest diff --git a/src/ontology/reports/component_signature-doid.tsv b/src/ontology/reports/component_signature-doid.tsv index 161cfcfd..0cea4be4 100644 --- a/src/ontology/reports/component_signature-doid.tsv +++ b/src/ontology/reports/component_signature-doid.tsv @@ -1776,6 +1776,15 @@ + + + + + + + + + @@ -2375,6 +2384,11 @@ + + + + + @@ -11876,6 +11890,7 @@ + @@ -11933,6 +11948,7 @@ + @@ -13046,6 +13062,7 @@ + @@ -13085,6 +13102,7 @@ + @@ -13138,6 +13156,7 @@ + @@ -13228,4 +13247,5 @@ + diff --git a/src/ontology/reports/component_signature-omim.tsv b/src/ontology/reports/component_signature-omim.tsv index 033d5566..019eb590 100644 --- a/src/ontology/reports/component_signature-omim.tsv +++ b/src/ontology/reports/component_signature-omim.tsv @@ -753,6 +753,7 @@ + @@ -1152,7 +1153,6 @@ - @@ -1461,6 +1461,7 @@ + @@ -1485,6 +1486,7 @@ + @@ -1756,6 +1758,7 @@ + @@ -1943,6 +1946,7 @@ + @@ -2051,7 +2055,6 @@ - @@ -2230,7 +2233,6 @@ - @@ -2330,7 +2332,6 @@ - @@ -2345,6 +2346,7 @@ + @@ -2391,6 +2393,7 @@ + @@ -2443,6 +2446,7 @@ + @@ -2913,6 +2917,7 @@ + @@ -2920,6 +2925,7 @@ + @@ -3746,7 +3752,6 @@ - @@ -3758,6 +3763,7 @@ + @@ -3928,7 +3934,6 @@ - @@ -4001,7 +4006,6 @@ - @@ -4146,6 +4150,7 @@ + @@ -4430,7 +4435,6 @@ - @@ -4535,7 +4539,6 @@ - @@ -4910,7 +4913,6 @@ - @@ -7833,6 +7835,7 @@ + @@ -9818,6 +9821,7 @@ + @@ -10439,6 +10443,9 @@ + + + @@ -12488,6 +12495,7 @@ + @@ -13113,7 +13121,6 @@ - @@ -17960,6 +17967,7 @@ + @@ -18393,6 +18401,7 @@ + @@ -18992,6 +19001,7 @@ + @@ -19459,6 +19469,7 @@ + @@ -21139,7 +21150,6 @@ - @@ -21332,6 +21342,24 @@ + + + + + + + + + + + + + + + + + + @@ -21562,7 +21590,6 @@ - @@ -21591,6 +21618,7 @@ + @@ -22009,6 +22037,7 @@ + diff --git a/src/ontology/reports/doid.subclass.added.robot.tsv b/src/ontology/reports/doid.subclass.added.robot.tsv index 96b86f7e..1f8d17e5 100644 --- a/src/ontology/reports/doid.subclass.added.robot.tsv +++ b/src/ontology/reports/doid.subclass.added.robot.tsv @@ -814,7 +814,7 @@ MONDO:0007015 viral meningitis MONDO:0005108 DOID:10310 DOID:934 viral infectiou MONDO:0007032 prune belly syndrome MONDO:0006025 DOID:0060889 DOID:0050737 autosomal recessive disease MONDO:0007034 Adams-Oliver syndrome MONDO:0002254 DOID:0060227 DOID:225 syndromic disease MONDO:0007035 acanthosis nigricans MONDO:0019288 DOID:3138 DOID:10123 skin pigmentation disorder -MONDO:0007039 neurofibromatosis type 2 MONDO:0008075 DOID:0111252 DOID:3204 schwannomatosis +MONDO:0007039 NF2-related schwannomatosis MONDO:0008075 DOID:0111252 DOID:3204 schwannomatosis MONDO:0007042 Saethre-Chotzen syndrome MONDO:0000426 DOID:14768 DOID:0050736 autosomal dominant disease MONDO:0007043 Pfeiffer syndrome MONDO:0000426 DOID:14705 DOID:0050736 autosomal dominant disease MONDO:0007046 hereditary papulotranslucent acrokeratoderma MONDO:0006530 DOID:0060360 DOID:869 cholesteatoma @@ -2097,7 +2097,7 @@ MONDO:0011475 Charcot-Marie-Tooth disease type 4B2 MONDO:0006025 DOID:0110190 DO MONDO:0011476 MHC class I deficiency MONDO:0015974 DOID:0060009 DOID:627 severe combined immunodeficiency MONDO:0011486 congenital muscular dystrophy 1B MONDO:0006025 DOID:0110634 DOID:0050737 autosomal recessive disease MONDO:0011489 hereditary spastic paraplegia 12 MONDO:0000426 DOID:0110765 DOID:0050736 autosomal dominant disease -MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0005579 DOID:0111321 DOID:1827 epilepsy, idiopathic generalized +MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0005579 DOID:0111321 DOID:1827 idiopathic generalized epilepsy MONDO:0011493 Stickler syndrome type 2 MONDO:0000426 DOID:0080675 DOID:0050736 autosomal dominant disease MONDO:0011498 schizophrenia 9 MONDO:0005090 DOID:0070085 DOID:5419 schizophrenia MONDO:0011502 Wolfram syndrome 2 MONDO:0006025 DOID:0110630 DOID:0050737 autosomal recessive disease @@ -2144,6 +2144,7 @@ MONDO:0011608 dermatitis, atopic, 5 MONDO:0004980 DOID:0110101 DOID:3310 atopic MONDO:0011609 dermatitis, atopic, 6 MONDO:0004980 DOID:0110102 DOID:3310 atopic eczema MONDO:0011610 dimethylglycine dehydrogenase deficiency MONDO:0004736 DOID:0081446 DOID:9252 inborn disorder of amino acid metabolism MONDO:0011610 dimethylglycine dehydrogenase deficiency MONDO:0006025 DOID:0081446 DOID:0050737 autosomal recessive disease +MONDO:0011612 glycine encephalopathy MONDO:0006025 DOID:9268 DOID:0050737 autosomal recessive disease MONDO:0011613 autosomal recessive early-onset Parkinson disease 6 MONDO:0006025 DOID:0060369 DOID:0050737 autosomal recessive disease MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0004736 DOID:0081168 DOID:9252 inborn disorder of amino acid metabolism MONDO:0011614 3-hydroxy-3-methylglutaryl-CoA synthase deficiency MONDO:0006025 DOID:0081168 DOID:0050737 autosomal recessive disease @@ -2175,7 +2176,7 @@ MONDO:0011731 glucose-galactose malabsorption MONDO:0006025 DOID:0070563 DOID:00 MONDO:0011735 hyper-IgM syndrome type 3 MONDO:0006025 DOID:0060023 DOID:0050737 autosomal recessive disease MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0006025 DOID:0080922 DOID:0050737 autosomal recessive disease MONDO:0011740 Carney-Stratakis syndrome MONDO:0000426 DOID:0080533 DOID:0050736 autosomal dominant disease -MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 MONDO:0005579 DOID:0111317 DOID:1827 epilepsy, idiopathic generalized +MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 MONDO:0005579 DOID:0111317 DOID:1827 idiopathic generalized epilepsy MONDO:0011757 brachydactyly type A1B MONDO:0007215 DOID:0110974 DOID:0110964 brachydactyly type A1 MONDO:0011758 Hurler syndrome MONDO:0006025 DOID:0111390 DOID:0050737 autosomal recessive disease MONDO:0011759 Hurler-Scheie syndrome MONDO:0006025 DOID:0111389 DOID:0050737 autosomal recessive disease @@ -2199,11 +2200,11 @@ MONDO:0011844 myoclonic dystonia 15 MONDO:0000426 DOID:0090035 DOID:0050736 auto MONDO:0011852 nonsyndromic congenital nail disorder 8 MONDO:0000426 DOID:0080086 DOID:0050736 autosomal dominant disease MONDO:0011855 granular corneal dystrophy type II MONDO:0001490 DOID:0060444 DOID:12318 corneal granular dystrophy MONDO:0011862 hereditary spastic paraplegia 24 MONDO:0006025 DOID:0110775 DOID:0050737 autosomal recessive disease -MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 MONDO:0005579 DOID:0111312 DOID:1827 epilepsy, idiopathic generalized +MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 MONDO:0005579 DOID:0111312 DOID:1827 idiopathic generalized epilepsy MONDO:0011881 keratosis palmoplantaris striata 3 MONDO:0000426 DOID:0081110 DOID:0050736 autosomal dominant disease MONDO:0011886 torsion dystonia 13 MONDO:0000426 DOID:0090037 DOID:0050736 autosomal dominant disease MONDO:0011890 Charcot-Marie-Tooth disease type 1D MONDO:0000426 DOID:0110150 DOID:0050736 autosomal dominant disease -MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 MONDO:0005579 DOID:0111323 DOID:1827 epilepsy, idiopathic generalized +MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 MONDO:0005579 DOID:0111323 DOID:1827 idiopathic generalized epilepsy MONDO:0011894 Charcot-Marie-Tooth disease type 2E MONDO:0000426 DOID:0110165 DOID:0050736 autosomal dominant disease MONDO:0011897 leukoencephalopathy-ataxia-hypodontia-hypomyelination syndrome MONDO:0006025 DOID:0060794 DOID:0050737 autosomal recessive disease MONDO:0011901 Charcot-Marie-Tooth disease axonal type 2H MONDO:0006025 DOID:0110166 DOID:0050737 autosomal recessive disease @@ -2254,7 +2255,7 @@ MONDO:0012096 Charcot-Marie-Tooth disease axonal type 2L MONDO:0000426 DOID:0110 MONDO:0012105 granulomatosis with polyangiitis MONDO:0000602 DOID:12132 DOID:0060050 autoimmune disorder of blood MONDO:0012105 granulomatosis with polyangiitis MONDO:0005093 DOID:12132 DOID:37 skin disorder MONDO:0012105 granulomatosis with polyangiitis MONDO:0005275 DOID:12132 DOID:850 lung disorder -MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 MONDO:0005579 DOID:0111318 DOID:1827 epilepsy, idiopathic generalized +MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 MONDO:0005579 DOID:0111318 DOID:1827 idiopathic generalized epilepsy MONDO:0012117 ALG9-congenital disorder of glycosylation MONDO:0006025 DOID:0080564 DOID:0050737 autosomal recessive disease MONDO:0012118 COG7-congenital disorder of glycosylation MONDO:0006025 DOID:0070257 DOID:0050737 autosomal recessive disease MONDO:0012123 congenital disorder of glycosylation type 1E MONDO:0006025 DOID:0080557 DOID:0050737 autosomal recessive disease @@ -2311,7 +2312,7 @@ MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant MONDO:0000858 MONDO:0012322 holoprosencephaly 5 MONDO:0000426 DOID:0110878 DOID:0050736 autosomal dominant disease MONDO:0012336 cataract 22 multiple types MONDO:0000426 DOID:0110268 DOID:0050736 autosomal dominant disease MONDO:0012336 cataract 22 multiple types MONDO:0006025 DOID:0110268 DOID:0050737 autosomal recessive disease -MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 MONDO:0005579 DOID:0111319 DOID:1827 epilepsy, idiopathic generalized +MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 MONDO:0005579 DOID:0111319 DOID:1827 idiopathic generalized epilepsy MONDO:0012353 erythrocytosis, familial, 3 MONDO:0000426 DOID:0080338 DOID:0050736 autosomal dominant disease MONDO:0012354 platelet-type bleeding disorder 8 MONDO:0006025 DOID:0060692 DOID:0050737 autosomal recessive disease MONDO:0012360 congenital nongoitrous hypothyroidism 3 MONDO:0000426 DOID:0070127 DOID:0050736 autosomal dominant disease @@ -2357,6 +2358,7 @@ MONDO:0012481 mevalonic aciduria MONDO:0019053 DOID:0050452 DOID:906 peroxisomal MONDO:0012487 alopecia-intellectual disability syndrome 2 MONDO:0006025 DOID:0080629 DOID:0050737 autosomal recessive disease MONDO:0012495 spondyloepimetaphyseal dysplasia, Genevieve type MONDO:0006025 DOID:0080576 DOID:0050737 autosomal recessive disease MONDO:0012498 congenital stationary night blindness autosomal dominant 1 MONDO:0000426 DOID:0110862 DOID:0050736 autosomal dominant disease +MONDO:0012503 thiopurine S-methyltransferase deficiency MONDO:0006025 DOID:0080172 DOID:0050737 autosomal recessive disease MONDO:0012504 camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0002254 DOID:0111160 DOID:225 syndromic disease MONDO:0012505 pigmented nodular adrenocortical disease, primary, 2 MONDO:0000426 DOID:0070547 DOID:0050736 autosomal dominant disease MONDO:0012509 pigmented nodular adrenocortical disease, primary, 1 MONDO:0000426 DOID:0070546 DOID:0050736 autosomal dominant disease @@ -2399,7 +2401,7 @@ MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0006025 DOID:0112072 DOI MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0100223 DOID:0112072 DOID:0112065 mitochondrial complex I deficiency, nuclear type MONDO:0012625 retinitis pigmentosa 37 MONDO:0000426 DOID:0110399 DOID:0050736 autosomal dominant disease MONDO:0012625 retinitis pigmentosa 37 MONDO:0006025 DOID:0110399 DOID:0050737 autosomal recessive disease -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 MONDO:0005579 DOID:0111314 DOID:1827 epilepsy, idiopathic generalized +MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 MONDO:0005579 DOID:0111314 DOID:1827 idiopathic generalized epilepsy MONDO:0012629 paroxysmal nonkinesigenic dyskinesia 2 MONDO:0000426 DOID:0090047 DOID:0050736 autosomal dominant disease MONDO:0012635 COG8-congenital disorder of glycosylation MONDO:0006025 DOID:0070260 DOID:0050737 autosomal recessive disease MONDO:0012637 COG1-congenital disorder of glycosylation MONDO:0006025 DOID:0070259 DOID:0050737 autosomal recessive disease @@ -2432,7 +2434,7 @@ MONDO:0012738 long QT syndrome 11 MONDO:0000426 DOID:0110652 DOID:0050736 autoso MONDO:0012744 dilated cardiomyopathy 1Y MONDO:0000426 DOID:0110457 DOID:0050736 autosomal dominant disease MONDO:0012744 dilated cardiomyopathy 1Y MONDO:0005021 DOID:0110457 DOID:12930 dilated cardiomyopathy MONDO:0012746 dilated cardiomyopathy 2A MONDO:0006025 DOID:0110460 DOID:0050737 autosomal recessive disease -MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 MONDO:0005579 DOID:0111320 DOID:1827 epilepsy, idiopathic generalized +MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 MONDO:0005579 DOID:0111320 DOID:1827 idiopathic generalized epilepsy MONDO:0012764 RIDDLE syndrome MONDO:0002254 DOID:0090113 DOID:225 syndromic disease MONDO:0012765 lymphatic malformation 2 MONDO:0000426 DOID:0070211 DOID:0050736 autosomal dominant disease MONDO:0012766 hereditary spastic paraplegia 37 MONDO:0000426 DOID:0110788 DOID:0050736 autosomal dominant disease @@ -2510,7 +2512,7 @@ MONDO:0013011 atrial septal defect 5 MONDO:0000426 DOID:0110110 DOID:0050736 aut MONDO:0013017 hypotrichosis 5 MONDO:0000426 DOID:0110702 DOID:0050736 autosomal dominant disease MONDO:0013027 posterior amorphous corneal dystrophy MONDO:0000426 DOID:0060452 DOID:0050736 autosomal dominant disease MONDO:0013027 posterior amorphous corneal dystrophy MONDO:0000761 DOID:0060452 DOID:0060388 syndrome caused by partial chromosomal deletion -MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 MONDO:0005579 DOID:0111322 DOID:1827 epilepsy, idiopathic generalized +MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 MONDO:0005579 DOID:0111322 DOID:1827 idiopathic generalized epilepsy MONDO:0013034 keratosis palmoplantaris striata 2 MONDO:0000426 DOID:0081109 DOID:0050736 autosomal dominant disease MONDO:0013048 hereditary spastic paraplegia 50 MONDO:0006025 DOID:0110802 DOID:0050737 autosomal recessive disease MONDO:0013052 retinitis pigmentosa 42 MONDO:0000426 DOID:0110386 DOID:0050736 autosomal dominant disease @@ -2532,7 +2534,7 @@ MONDO:0013087 bronchiectasis with or without elevated sweat chloride 2 MONDO:000 MONDO:0013089 schizophrenia 13 MONDO:0005090 DOID:0070089 DOID:5419 schizophrenia MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO:0000426 DOID:0060408 DOID:0050736 autosomal dominant disease MONDO:0013091 glycogen storage disease IXc MONDO:0006025 DOID:0111043 DOID:0050737 autosomal recessive disease -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0005579 DOID:0111292 DOID:1827 epilepsy, idiopathic generalized +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0005579 DOID:0111292 DOID:1827 idiopathic generalized epilepsy MONDO:0013107 dermatitis, atopic, 7 MONDO:0004980 DOID:0110103 DOID:3310 atopic eczema MONDO:0013110 neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0006025 DOID:0050719 DOID:0050737 autosomal recessive disease MONDO:0013111 acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins MONDO:0006025 DOID:0080778 DOID:0050737 autosomal recessive disease @@ -2800,7 +2802,7 @@ MONDO:0013912 hypogonadotropic hypogonadism 10 with or without anosmia MONDO:000 MONDO:0013913 hypogonadotropic hypogonadism 11 with or without anosmia MONDO:0006025 DOID:0090071 DOID:0050737 autosomal recessive disease MONDO:0013914 hypogonadotropic hypogonadism 12 with or without anosmia MONDO:0006025 DOID:0090072 DOID:0050737 autosomal recessive disease MONDO:0013915 hypogonadotropic hypogonadism 13 with or without anosmia MONDO:0006025 DOID:0090073 DOID:0050737 autosomal recessive disease -MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 MONDO:0005579 DOID:0111313 DOID:1827 epilepsy, idiopathic generalized +MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 MONDO:0005579 DOID:0111313 DOID:1827 idiopathic generalized epilepsy MONDO:0013924 osteogenesis imperfecta type 13 MONDO:0006025 DOID:0110342 DOID:0050737 autosomal recessive disease MONDO:0013926 hypogonadotropic hypogonadism 14 with or without anosmia MONDO:0000426 DOID:0090087 DOID:0050736 autosomal dominant disease MONDO:0013928 dystonia 23 MONDO:0000426 DOID:0090051 DOID:0050736 autosomal dominant disease @@ -3148,7 +3150,7 @@ MONDO:0014629 autoimmune interstitial lung disease-arthritis syndrome MONDO:0007 MONDO:0014630 familial adenomatous polyposis 3 MONDO:0006025 DOID:0080411 DOID:0050737 autosomal recessive disease MONDO:0014632 hypomyelinating leukodystrophy 10 MONDO:0006025 DOID:0060788 DOID:0050737 autosomal recessive disease MONDO:0014633 myoclonic-atonic epilepsy MONDO:0000426 DOID:0060475 DOID:0050736 autosomal dominant disease -MONDO:0014633 myoclonic-atonic epilepsy MONDO:0005579 DOID:0060475 DOID:1827 epilepsy, idiopathic generalized +MONDO:0014633 myoclonic-atonic epilepsy MONDO:0005579 DOID:0060475 DOID:1827 idiopathic generalized epilepsy MONDO:0014634 46,XY sex reversal 10 MONDO:0000426 DOID:0111775 DOID:0050736 autosomal dominant disease MONDO:0014634 46,XY sex reversal 10 MONDO:0000761 DOID:0111775 DOID:0060388 syndrome caused by partial chromosomal deletion MONDO:0014636 combined oxidative phosphorylation defect type 25 MONDO:0006025 DOID:0111468 DOID:0050737 autosomal recessive disease @@ -3201,7 +3203,7 @@ MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO:0006025 DO MONDO:0014729 hereditary spastic paraplegia 75 MONDO:0006025 DOID:0110820 DOID:0050737 autosomal recessive disease MONDO:0014732 hypomyelinating leukodystrophy 12 MONDO:0006025 DOID:0060796 DOID:0050737 autosomal recessive disease MONDO:0014733 Charcot-Marie-Tooth disease type 4K MONDO:0006025 DOID:0110187 DOID:0050737 autosomal recessive disease -MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 MONDO:0005579 DOID:0111315 DOID:1827 epilepsy, idiopathic generalized +MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 MONDO:0005579 DOID:0111315 DOID:1827 idiopathic generalized epilepsy MONDO:0014735 Charcot-Marie-Tooth disease type 2Y MONDO:0000426 DOID:0110168 DOID:0050736 autosomal dominant disease MONDO:0014736 Charcot-Marie-Tooth disease axonal type 2Z MONDO:0000426 DOID:0110181 DOID:0050736 autosomal dominant disease MONDO:0014737 dehydrated hereditary stomatocytosis 2 MONDO:0000426 DOID:0111577 DOID:0050736 autosomal dominant disease @@ -3445,7 +3447,7 @@ MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0002 MONDO:0018159 atypical hemolytic-uremic syndrome with DGKE deficiency MONDO:0006025 DOID:0080388 DOID:0050737 autosomal recessive disease MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0009054 DOID:0070134 DOID:0070141 autosomal recessive cutis laxa type 2, classic type MONDO:0018190 autosomal dominant childhood-onset proximal spinal muscular atrophy MONDO:0000426 DOID:0070348 DOID:0050736 autosomal dominant disease -MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0005579 DOID:0060170 DOID:1827 epilepsy, idiopathic generalized +MONDO:0018214 generalized epilepsy with febrile seizures plus MONDO:0005579 DOID:0060170 DOID:1827 idiopathic generalized epilepsy MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome MONDO:0000426 DOID:0050880 DOID:0050736 autosomal dominant disease MONDO:0018216 Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome MONDO:0002254 DOID:0050880 DOID:225 syndromic disease MONDO:0018233 otopalatodigital syndrome spectrum disorder MONDO:0005497 DOID:0111782 DOID:0080006 bone development disease @@ -3606,12 +3608,9 @@ MONDO:0020527 ectopic Cushing syndrome MONDO:0003009 DOID:0060890 DOID:446 hyper MONDO:0020560 atypical teratoid rhabdoid tumor MONDO:0001657 DOID:2129 DOID:1319 brain cancer MONDO:0020602 Simpson-Golabi-Behmel syndrome type 1 MONDO:0020605 DOID:0060248 DOID:0080012 X-linked recessive disease MONDO:0020603 X-linked chondrodysplasia punctata 2 MONDO:0020604 DOID:0080352 DOID:0080009 X-linked dominant disease -MONDO:0020630 epileptic encephalopathy, infantile or early childhood, 1 MONDO:0000426 DOID:0080472 DOID:0050736 autosomal dominant disease -MONDO:0020630 epileptic encephalopathy, infantile or early childhood, 1 MONDO:0100062 DOID:0080472 DOID:0112202 developmental and epileptic encephalopathy -MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 MONDO:0000426 DOID:0080471 DOID:0050736 autosomal dominant disease -MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 MONDO:0100062 DOID:0080471 DOID:0112202 developmental and epileptic encephalopathy -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 MONDO:0000426 DOID:0112275 DOID:0050736 autosomal dominant disease -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 MONDO:0100062 DOID:0112275 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0020630 developmental and epileptic encephalopathy 91 MONDO:0000426 DOID:0080472 DOID:0050736 autosomal dominant disease +MONDO:0020631 developmental and epileptic encephalopathy 92 MONDO:0000426 DOID:0080471 DOID:0050736 autosomal dominant disease +MONDO:0020632 developmental and epileptic encephalopathy 93 MONDO:0000426 DOID:0112275 DOID:0050736 autosomal dominant disease MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:0000426 DOID:0081290 DOID:0050736 autosomal dominant disease MONDO:0020678 sensorineural hearing loss disorder MONDO:0002467 DOID:10003 DOID:2952 inner ear disorder MONDO:0020681 Ehlers-Danlos syndrome, musculocontractural type 1 MONDO:0006025 DOID:0080736 DOID:0050737 autosomal recessive disease @@ -3949,7 +3948,7 @@ MONDO:0032686 spermatogenic failure 35 MONDO:0006025 DOID:0111914 DOID:0050737 a MONDO:0032687 intellectual developmental disorder with abnormal behavior, microcephaly, and short stature MONDO:0019502 DOID:0081265 DOID:0060308 autosomal recessive non-syndromic intellectual disability MONDO:0032689 retinitis pigmentosa 85 MONDO:0006025 DOID:0112142 DOID:0050737 autosomal recessive disease MONDO:0032690 microcephaly, growth deficiency, seizures, and brain malformations MONDO:0002254 DOID:0081051 DOID:225 syndromic disease -MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0005579 DOID:0111316 DOID:1827 epilepsy, idiopathic generalized +MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0005579 DOID:0111316 DOID:1827 idiopathic generalized epilepsy MONDO:0032710 developmental and epileptic encephalopathy, 72 MONDO:0000426 DOID:0112208 DOID:0050736 autosomal dominant disease MONDO:0032712 combined oxidative phosphorylation deficiency 38 MONDO:0006025 DOID:0111466 DOID:0050737 autosomal recessive disease MONDO:0032717 amelogenesis imperfecta, type 3C MONDO:0006025 DOID:0111722 DOID:0050737 autosomal recessive disease diff --git a/src/ontology/reports/doid.subclass.confirmed.robot.tsv b/src/ontology/reports/doid.subclass.confirmed.robot.tsv index e07712b0..36535f6a 100644 --- a/src/ontology/reports/doid.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/doid.subclass.confirmed.robot.tsv @@ -1073,7 +1073,6 @@ MONDO:0001854 lacrimal apparatus disorder MONDO:0005328 DOID:1400 DOID:5614 eye MONDO:0001855 rubeosis iridis MONDO:0005283 DOID:14000 DOID:5679 retinal disorder MONDO:0001856 splenic artery aneurysm MONDO:0000473 DOID:14006 DOID:0050828 arterial disorder MONDO:0001857 Brucella canis brucellosis MONDO:0005683 DOID:14019 DOID:11077 brucellosis -MONDO:0001858 Tietze syndrome MONDO:0002254 DOID:14021 DOID:225 syndromic disease MONDO:0001859 algoneurodystrophy MONDO:0019369 DOID:14022 DOID:3223 complex regional pain syndrome MONDO:0001860 folic acid deficiency anemia MONDO:0006873 DOID:14026 DOID:5113 nutritional deficiency disease MONDO:0001861 malignant parietal pleura tumor MONDO:0006294 DOID:14032 DOID:5158 pleural cancer @@ -3505,7 +3504,6 @@ MONDO:0005574 tauopathy MONDO:0005559 DOID:680 DOID:1289 neurodegenerative disea MONDO:0005575 colorectal cancer MONDO:0005814 DOID:5672 DOID:10155 intestinal cancer MONDO:0005576 cryoglobulinemia MONDO:0002459 DOID:2917 DOID:2916 type IV hypersensitivity disease MONDO:0005578 arthritic joint disease MONDO:0002614 DOID:848 DOID:3342 bone inflammation disease -MONDO:0005579 epilepsy, idiopathic generalized MONDO:0005027 DOID:1827 DOID:1826 epilepsy MONDO:0005580 esophageal squamous cell carcinoma MONDO:0005096 DOID:3748 DOID:1749 squamous cell carcinoma MONDO:0005580 esophageal squamous cell carcinoma MONDO:0019086 DOID:3748 DOID:1107 carcinoma of esophagus MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0002358 DOID:2876 DOID:2600 laryngeal carcinoma @@ -5188,7 +5186,6 @@ MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0000477 DOID:0090057 DOID:005 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus MONDO:0008642 DOID:0111766 DOID:14679 VACTERL/vater association MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0000428 DOID:0110418 DOID:0050738 Y-linked disease MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0019200 DOID:0110418 DOID:10584 retinitis pigmentosa -MONDO:0010763 spermatogenic failure, Y-linked, 1 MONDO:0010595 DOID:0070186 DOID:0050457 Sertoli cell-only syndrome MONDO:0010764 hearing loss, Y-linked 1 MONDO:0033304 DOID:0111759 DOID:0111757 nonsyndromic deafness, Y-linked MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0001967 DOID:14448 DOID:14447 gonadal dysgenesis MONDO:0010767 spermatogenic failure, Y-linked, 2 MONDO:0004983 DOID:0070187 DOID:0111910 spermatogenic failure @@ -7247,6 +7244,9 @@ MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 DOID:0080531 DOID:3382 MONDO:0020572 complex regional pain syndrome type 2 MONDO:0019369 DOID:3222 DOID:3223 complex regional pain syndrome MONDO:0020604 X-linked dominant disease MONDO:0000425 DOID:0080009 DOID:0050735 X-linked disease MONDO:0020605 X-linked recessive disease MONDO:0000425 DOID:0080012 DOID:0050735 X-linked disease +MONDO:0020630 developmental and epileptic encephalopathy 91 MONDO:0100062 DOID:0080472 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0020631 developmental and epileptic encephalopathy 92 MONDO:0100062 DOID:0080471 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0020632 developmental and epileptic encephalopathy 93 MONDO:0100062 DOID:0112275 DOID:0112202 developmental and epileptic encephalopathy MONDO:0020655 juvenile ankylosing spondylitis MONDO:0005306 DOID:0040092 DOID:7147 ankylosing spondylitis MONDO:0020658 infiltrating ureter transitional cell carcinoma MONDO:0004030 DOID:6845 DOID:6888 ureter transitional cell carcinoma MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:0008803 DOID:0081290 DOID:0081289 Antley-Bixler syndrome @@ -7830,7 +7830,6 @@ MONDO:0054850 ovarian dysgenesis 6 MONDO:0009299 DOID:0080498 DOID:14450 46 XX g MONDO:0054852 peeling skin syndrome 6 MONDO:0019347 DOID:0070525 DOID:0060283 peeling skin syndrome MONDO:0054860 hearing loss, autosomal recessive 110 MONDO:0019588 DOID:0111644 DOID:0050565 hearing loss, autosomal recessive MONDO:0054861 intellectual disability, autosomal recessive 63 MONDO:0019502 DOID:0081224 DOID:0060308 autosomal recessive non-syndromic intellectual disability -MONDO:0056795 X-linked spermatogenic failure 1 MONDO:0010595 DOID:0070189 DOID:0050457 Sertoli cell-only syndrome MONDO:0056796 obstructive nephropathy MONDO:0005240 DOID:0070314 DOID:557 kidney disorder MONDO:0056804 benign neoplasm of peripheral nervous system MONDO:0000628 DOID:0080320 DOID:0060090 central nervous system organ benign neoplasm MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005233 DOID:0080521 DOID:3908 non-small cell lung carcinoma diff --git a/src/ontology/reports/doid_mapping_status.tsv b/src/ontology/reports/doid_mapping_status.tsv index 080dd812..161c0c1b 100644 --- a/src/ontology/reports/doid_mapping_status.tsv +++ b/src/ontology/reports/doid_mapping_status.tsv @@ -1,5 +1,6 @@ subject_id subject_label is_mapped is_excluded is_deprecated DOID:0050156 idiopathic pulmonary fibrosis False False False +DOID:0050457 Sertoli cell-only syndrome False False False DOID:0060160 childhood spinal muscular atrophy False False False DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 False False False DOID:0060854 autosomal recessive pseudohypoaldosteronism type 1 False False False @@ -14,6 +15,15 @@ DOID:0060991 congenital disorder of deglycosylation False False False DOID:0060992 bent bone dysplasia syndrome 1 False False False DOID:0060993 bent bone dysplasia syndrome 2 False False False DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 False False False +DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 False False False +DOID:0060996 poor metabolism of thiopurines 2 False False False +DOID:0060997 rhabdoid tumor predisposition syndrome 2 False False False +DOID:0060998 striatal degeneration 2 False False False +DOID:0060999 mitochondrial trifunctional protein deficiency 2 False False False +DOID:0061001 glycine encephalopathy 2 False False False +DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 False False False +DOID:0061003 pancreatic agenesis 1 False False False +DOID:0061004 poor metabolism of thiopurines 1 False False False DOID:0070564 dialysis disequilibrium syndrome False False False DOID:0070600 intellectual disability and myopathy syndrome False False False DOID:0070601 autosomal dominant nonsyndromic deafness 37 False False False @@ -30,6 +40,11 @@ DOID:0070611 autosomal dominant nonsyndromic deafness 88 False False False DOID:0070612 autosomal dominant nonsyndromic deafness 89 False False False DOID:0070613 familial renal glucosuria False False False DOID:0070614 chromosome 11 partial duplication syndrome False False False +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome False False False +DOID:0070616 glycine encephalopathy 1 False False False +DOID:0070617 rhabdoid tumor predisposition syndrome False False False +DOID:0070618 rhabdoid tumor predisposition syndrome 1 False False False +DOID:0070619 mitochondrial trifunctional protein deficiency 1 False False False DOID:0111368 cholesterol-ester transfer protein deficiency False False False DOID:146 papilledema False False False DOID:2536 chronic inflammatory demyelinating polyneuritis False False False @@ -2789,7 +2804,6 @@ DOID:0050452 mevalonic aciduria True False False DOID:0050453 lissencephaly True False False DOID:0050454 periventricular nodular heterotopia True False False DOID:0050456 Buruli ulcer disease True False False -DOID:0050457 Sertoli cell-only syndrome True False False DOID:0050458 juvenile myelomonocytic leukemia True False False DOID:0050459 hyperphosphatemia True False False DOID:0050460 Wolf-Hirschhorn syndrome True False False @@ -3147,7 +3161,7 @@ DOID:0050871 fibroma True False False DOID:0050872 large cell neuroendocrine carcinoma True False False DOID:0050873 follicular lymphoma True False False DOID:0050876 Caroli disease True False False -DOID:0050877 pancreatic agenesis 1 True False False +DOID:0050877 pancreatic agenesis True False False DOID:0050879 fragile X-associated tremor/ataxia syndrome True False False DOID:0050880 Koolen de Vries syndrome True False False DOID:0050881 inclusion body myopathy with Paget disease of bone and frontotemporal dementia True False False @@ -4844,7 +4858,7 @@ DOID:0080167 myeloid and lymphoid neoplasms associated with FGFR1 abnormalities DOID:0080169 tricuspid atresia True False False DOID:0080170 normophosphatemic familial tumoral calcinosis True False False DOID:0080171 esophageal atresia/tracheoesophageal fistula True False False -DOID:0080172 thiopurine S-methyltransferase deficiency True False False +DOID:0080172 poor metabolism of thiopurines True False False DOID:0080173 bladder exstrophy-epispadias-cloacal exstrophy complex True False False DOID:0080174 bladder exstrophy True False False DOID:0080175 cloacal exstrophy True False False @@ -6161,7 +6175,7 @@ DOID:0090093 hypogonadotropic hypogonadism 21 with or without anosmia True False DOID:0090094 hypogonadotropic hypogonadism 1 with or without anosmia True False False DOID:0090100 ocular albinism with sensorineural deafness True False False DOID:0090101 lethal congenital glycogen storage disease of heart True False False -DOID:0090102 autosomal dominant macrothrombocytopenia TUBB1-related True False False +DOID:0090102 autosomal dominant isolated macrothrombocytopenia 1 True False False DOID:0090103 Huntington's disease-like 1 True False False DOID:0090104 Huntington's disease-like 2 True False False DOID:0090105 autosomal recessive hypercholesterolemia True False False diff --git a/src/ontology/reports/doid_unmapped_terms.tsv b/src/ontology/reports/doid_unmapped_terms.tsv index 07e0fae0..9b032c11 100644 --- a/src/ontology/reports/doid_unmapped_terms.tsv +++ b/src/ontology/reports/doid_unmapped_terms.tsv @@ -1,5 +1,8 @@ subject_id subject_label +DOID:0050457 Sertoli cell-only syndrome DOID:2934 aleutian mink disease +DOID:0070615 autoinflammation, antibody deficiency, and immune dysregulation syndrome +DOID:0060995 autosomal dominant isolated macrothrombocytopenia 2 DOID:0070601 autosomal dominant nonsyndromic deafness 37 DOID:0070602 autosomal dominant nonsyndromic deafness 80 DOID:0070608 autosomal dominant nonsyndromic deafness 81 @@ -20,6 +23,7 @@ DOID:0060160 childhood spinal muscular atrophy DOID:0111368 cholesterol-ester transfer protein deficiency DOID:0070614 chromosome 11 partial duplication syndrome DOID:2536 chronic inflammatory demyelinating polyneuritis +DOID:0061002 congenital amegakaryocytic thrombocytopenia 2 DOID:0060991 congenital disorder of deglycosylation DOID:0060990 congenital disorder of deglycosylation 2 DOID:4668 congenital kyphosis @@ -27,13 +31,24 @@ DOID:0070564 dialysis disequilibrium syndrome DOID:0060984 digenic dyskeratosis congenita DOID:0060994 encephalopathy due to defective mitochondrial and peroxisomal fission 2 DOID:0070613 familial renal glucosuria +DOID:0070616 glycine encephalopathy 1 +DOID:0061001 glycine encephalopathy 2 DOID:0050156 idiopathic pulmonary fibrosis DOID:0070600 intellectual disability and myopathy syndrome DOID:0060333 mitochondrial complex V (ATP synthase) deficiency nuclear type 4 +DOID:0070619 mitochondrial trifunctional protein deficiency 1 +DOID:0060999 mitochondrial trifunctional protein deficiency 2 +DOID:0061003 pancreatic agenesis 1 DOID:0060988 pancreatic agenesis 2 DOID:146 papilledema +DOID:0061004 poor metabolism of thiopurines 1 +DOID:0060996 poor metabolism of thiopurines 2 DOID:9373 postural kyphosis DOID:0060987 preaxial polydactyly I DOID:0060986 preaxial polydactyly II DOID:0060985 preaxial polydactyly type IV +DOID:0070617 rhabdoid tumor predisposition syndrome +DOID:0070618 rhabdoid tumor predisposition syndrome 1 +DOID:0060997 rhabdoid tumor predisposition syndrome 2 DOID:0060989 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 +DOID:0060998 striatal degeneration 2 diff --git a/src/ontology/reports/mirror_signature-doid.tsv b/src/ontology/reports/mirror_signature-doid.tsv index f9d36211..a16fa3a8 100644 --- a/src/ontology/reports/mirror_signature-doid.tsv +++ b/src/ontology/reports/mirror_signature-doid.tsv @@ -2521,6 +2521,15 @@ + + + + + + + + + @@ -3136,6 +3145,11 @@ + + + + + @@ -14935,6 +14949,8 @@ + + @@ -14985,6 +15001,7 @@ + @@ -15127,6 +15144,8 @@ + + @@ -18280,6 +18299,7 @@ + @@ -18682,6 +18702,7 @@ + @@ -18754,6 +18775,7 @@ + diff --git a/src/ontology/reports/mirror_signature-mondo.tsv b/src/ontology/reports/mirror_signature-mondo.tsv index 9034b06a..2e953e5e 100644 --- a/src/ontology/reports/mirror_signature-mondo.tsv +++ b/src/ontology/reports/mirror_signature-mondo.tsv @@ -1471,6 +1471,7 @@ + @@ -3878,15 +3879,26 @@ + + + + + + + + + + + @@ -3911,24 +3923,39 @@ + + + + + + + + + + + + + + + @@ -3941,6 +3968,7 @@ + @@ -3949,16 +3977,28 @@ + + + + + + + + + + + + @@ -3968,10 +4008,13 @@ + + + @@ -3980,9 +4023,12 @@ + + + @@ -3992,16 +4038,21 @@ + + + + + @@ -4016,6 +4067,8 @@ + + @@ -6325,6 +6378,7 @@ + @@ -6752,8 +6806,11 @@ + + + @@ -7856,6 +7913,7 @@ + @@ -8554,6 +8612,7 @@ + @@ -9621,6 +9680,7 @@ + @@ -10041,6 +10101,7 @@ + @@ -11269,6 +11330,7 @@ + @@ -42490,6 +42552,10 @@ + + + + @@ -46525,6 +46591,73 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -48502,6 +48635,7 @@ + @@ -48834,6 +48968,7 @@ + @@ -49052,6 +49187,7 @@ + diff --git a/src/ontology/reports/mirror_signature-omim.tsv b/src/ontology/reports/mirror_signature-omim.tsv index 347e2824..a05817eb 100644 --- a/src/ontology/reports/mirror_signature-omim.tsv +++ b/src/ontology/reports/mirror_signature-omim.tsv @@ -753,6 +753,7 @@ + @@ -1152,7 +1153,6 @@ - @@ -1461,6 +1461,7 @@ + @@ -1485,6 +1486,7 @@ + @@ -1756,6 +1758,7 @@ + @@ -1943,6 +1946,7 @@ + @@ -2051,7 +2055,6 @@ - @@ -2230,7 +2233,6 @@ - @@ -2330,7 +2332,6 @@ - @@ -2345,6 +2346,7 @@ + @@ -2391,6 +2393,7 @@ + @@ -2443,6 +2446,7 @@ + @@ -2913,6 +2917,7 @@ + @@ -2920,6 +2925,7 @@ + @@ -3746,7 +3752,6 @@ - @@ -3758,6 +3763,7 @@ + @@ -3928,7 +3934,6 @@ - @@ -4001,7 +4006,6 @@ - @@ -4146,6 +4150,7 @@ + @@ -4430,7 +4435,6 @@ - @@ -4535,7 +4539,6 @@ - @@ -12246,6 +12249,14 @@ + + + + + + + + @@ -33755,6 +33766,40 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -33985,7 +34030,6 @@ - @@ -34014,6 +34058,7 @@ + @@ -34432,6 +34477,7 @@ + diff --git a/src/ontology/reports/omim.subclass.added.robot.tsv b/src/ontology/reports/omim.subclass.added.robot.tsv index 209627e3..74a724ed 100644 --- a/src/ontology/reports/omim.subclass.added.robot.tsv +++ b/src/ontology/reports/omim.subclass.added.robot.tsv @@ -1,8 +1,7 @@ subject_mondo_id subject_mondo_label object_mondo_id subject_source_id object_source_id object_mondo_label ID AI obo:mondo#excluded_subClassOf >A oboInOwl:source MONDO:0004980 atopic eczema MONDO:0100178 OMIM:603165 OMIMPS:603165 dermatitis, atopic, susceptibility to -MONDO:0005260 autism MONDO:0020836 OMIM:209850 OMIMPS:209850 autism, susceptiblity to -MONDO:0007039 neurofibromatosis type 2 MONDO:0008075 OMIM:101000 OMIMPS:162091 schwannomatosis +MONDO:0007039 NF2-related schwannomatosis MONDO:0008075 OMIM:101000 OMIMPS:162091 schwannomatosis MONDO:0007097 Finnish type amyloidosis MONDO:0007100 OMIM:105120 OMIMPS:105210 familial amyloid neuropathy MONDO:0007099 familial visceral amyloidosis MONDO:0007100 OMIM:105200 OMIMPS:105210 familial amyloid neuropathy MONDO:0007350 coloboma, ocular, autosomal dominant MONDO:0000170 OMIM:120200 OMIMPS:300345 microphthalmia, isolated, with coloboma @@ -67,7 +66,7 @@ MONDO:0011407 facial paresis, hereditary congenital, 2 MONDO:0011090 OMIM:604185 MONDO:0011415 Leber congenital amaurosis 3 MONDO:0019200 OMIM:604232 OMIMPS:268000 retinitis pigmentosa MONDO:0011434 psoriasis 5, susceptibility to MONDO:0005083 OMIM:604316 OMIMPS:177900 psoriasis MONDO:0011451 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 MONDO:0033885 OMIM:604377 OMIMPS:220110 mitochondrial complex IV deficiency, nuclear-type -MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0005579 OMIM:604827 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0005579 OMIM:604827 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0011491 epilepsy, idiopathic generalized, susceptibility to, 7 MONDO:0009696 OMIM:604827 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0011542 psoriasis 6, susceptibility to MONDO:0005083 OMIM:605364 OMIMPS:177900 psoriasis MONDO:0011573 psoriasis 7, susceptibility to MONDO:0005083 OMIM:605606 OMIMPS:177900 psoriasis @@ -78,28 +77,27 @@ MONDO:0011714 partial lipodystrophy, congenital cataracts, and neurodegeneration MONDO:0011738 bilateral frontoparietal polymicrogyria MONDO:0000904 OMIM:606854 OMIMPS:614039 complex cortical dysplasia with other brain malformations MONDO:0011741 Hirschsprung disease, susceptibility to, 6 MONDO:0018309 OMIM:606874 OMIMPS:142623 Hirschsprung disease MONDO:0011742 Hirschsprung disease, susceptibility to, 7 MONDO:0018309 OMIM:606875 OMIMPS:142623 Hirschsprung disease -MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 MONDO:0005579 OMIM:606972 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0011753 epilepsy, idiopathic generalized, susceptibility to, 2 MONDO:0005579 OMIM:606972 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0011787 autosomal recessive limb-girdle muscular dystrophy type 2I MONDO:0000173 OMIM:607155 OMIMPS:609308 muscular dystrophy-dystroglycanopathy, type C MONDO:0011793 celiac disease, susceptibility to, 5 MONDO:0005130 OMIM:607202 OMIMPS:212750 celiac disease MONDO:0011851 migraine with or without aura, susceptibility to, 6 MONDO:0000700 OMIM:607516 OMIMPS:141500 familial hemiplegic migraine -MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 MONDO:0005579 OMIM:607628 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 MONDO:0005579 OMIM:607628 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0011875 epilepsy, idiopathic generalized, susceptibility to, 11 MONDO:0009696 OMIM:607628 OMIMPS:254770 juvenile myoclonic epilepsy -MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 MONDO:0005579 OMIM:607682 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 MONDO:0005579 OMIM:607682 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0011892 epilepsy, idiopathic generalized, susceptibility to, 9 MONDO:0009696 OMIM:607682 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0011896 Parkinson disease 11, autosomal dominant, susceptibility to MONDO:0005180 OMIM:607688 OMIMPS:168600 Parkinson disease MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to MONDO:0005363 OMIM:607832 OMIMPS:603278 inherited focal segmental glomerulosclerosis MONDO:0011926 psoriasis 9, susceptibility to MONDO:0005083 OMIM:607857 OMIMPS:177900 psoriasis MONDO:0011974 retinitis pigmentosa 7 MONDO:0018998 OMIM:608133 OMIMPS:204000 Leber congenital amaurosis MONDO:0012042 Hirschsprung disease, susceptibility to, 8 MONDO:0018309 OMIM:608462 OMIMPS:142623 Hirschsprung disease -MONDO:0012081 15q11q13 microduplication syndrome MONDO:0020836 OMIM:608636 OMIMPS:209850 autism, susceptiblity to -MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 MONDO:0005579 OMIM:608762 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0012113 epilepsy, idiopathic generalized, susceptibility to, 3 MONDO:0005579 OMIM:608762 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0012130 myofibrillar myopathy 2 MONDO:0018943 OMIM:608810 OMIMPS:601419 myofibrillar myopathy MONDO:0012134 myoclonic epilepsy, juvenile, susceptibility to, 3 MONDO:0009696 OMIM:608816 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0012141 orofacial cleft 6, susceptibility to MONDO:0000358 OMIM:608864 OMIMPS:119530 orofacial cleft MONDO:0012161 susceptibility to respiratory infections associated with CD8alpha chain mutation MONDO:0021094 OMIM:608957 OMIMPS:300755 immunodeficiency disease MONDO:0012212 Loeys-Dietz syndrome 1 MONDO:0019625 OMIM:609192 OMIMPS:607086 familial thoracic aortic aneurysm and aortic dissection MONDO:0012317 visceral neuropathy, familial, 3, autosomal dominant MONDO:0023961 OMIM:609629 OMIMPS:243180 visceral neuropathy, familial -MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 MONDO:0005579 OMIM:609750 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0012338 epilepsy, idiopathic generalized, susceptibility to, 4 MONDO:0005579 OMIM:609750 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0012339 celiac disease, susceptibility to, 4 MONDO:0005130 OMIM:609753 OMIMPS:212750 celiac disease MONDO:0012340 celiac disease, susceptibility to, 2 MONDO:0005130 OMIM:609754 OMIMPS:212750 celiac disease MONDO:0012341 celiac disease, susceptibility to, 3 MONDO:0005130 OMIM:609755 OMIMPS:212750 celiac disease @@ -109,7 +107,7 @@ MONDO:0012474 autosomal dominant nocturnal frontal lobe epilepsy 4 MONDO:0017615 MONDO:0012496 Koolen-de Vries syndrome MONDO:0100172 OMIM:610443 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0012542 psoriasis 8, susceptibility to MONDO:0005083 OMIM:610707 OMIMPS:177900 psoriasis MONDO:0012624 acyl-CoA dehydrogenase 9 deficiency MONDO:0100223 OMIM:611126 OMIMPS:252010 mitochondrial complex I deficiency, nuclear type -MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 MONDO:0005579 OMIM:611136 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 MONDO:0005579 OMIM:611136 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 MONDO:0009696 OMIM:611136 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0012627 epilepsy, idiopathic generalized, susceptibility to, 13 MONDO:0010826 OMIM:611136 OMIMPS:600131 childhood absence epilepsy MONDO:0012655 myoclonic epilepsy, juvenile, susceptibility to, 4 MONDO:0009696 OMIM:611364 OMIMPS:254770 juvenile myoclonic epilepsy @@ -120,9 +118,8 @@ MONDO:0012710 Hirschsprung disease, susceptibility to, 9 MONDO:0018309 OMIM:6116 MONDO:0012737 long QT syndrome 10 MONDO:0018054 OMIM:611819 OMIMPS:608583 familial atrial fibrillation MONDO:0012744 dilated cardiomyopathy 1Y MONDO:0016333 OMIM:611878 OMIMPS:115200 familial dilated cardiomyopathy MONDO:0012747 glycogen storage disease due to aldolase A deficiency MONDO:0002412 OMIM:611881 OMIMPS:232200 disorder of glycogen metabolism -MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO:0020836 OMIM:611913 OMIMPS:209850 autism, susceptiblity to -MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 MONDO:0005579 OMIM:611934 OMIMPS:600669 epilepsy, idiopathic generalized -MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 MONDO:0005579 OMIM:611942 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0012760 epilepsy, idiopathic generalized, susceptibility to, 5 MONDO:0005579 OMIM:611934 OMIMPS:600669 idiopathic generalized epilepsy +MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 MONDO:0005579 OMIM:611942 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0012763 epilepsy, childhood absence, susceptibility to, 6 MONDO:0010826 OMIM:611942 OMIMPS:600131 childhood absence epilepsy MONDO:0012776 celiac disease, susceptibility to, 7 MONDO:0005130 OMIM:612005 OMIMPS:212750 celiac disease MONDO:0012777 celiac disease, susceptibility to, 8 MONDO:0005130 OMIM:612006 OMIMPS:212750 celiac disease @@ -140,9 +137,9 @@ MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to MONDO:0005 MONDO:0012959 psoriasis 11, susceptibility to MONDO:0005083 OMIM:612599 OMIMPS:177900 psoriasis MONDO:0012990 Leber congenital amaurosis 13 MONDO:0019200 OMIM:612712 OMIMPS:268000 retinitis pigmentosa MONDO:0013020 narcolepsy 5, susceptibility to MONDO:0100554 OMIM:612851 OMIMPS:161400 hereditary narcolepsy -MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 MONDO:0005579 OMIM:612899 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 MONDO:0005579 OMIM:612899 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0013057 psoriasis 12, susceptibility to MONDO:0005083 OMIM:612950 OMIMPS:177900 psoriasis -MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0005579 OMIM:613060 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0005579 OMIM:613060 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0009696 OMIM:613060 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0013103 epilepsy, idiopathic generalized, susceptibility to, 10 MONDO:0018214 OMIM:613060 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0013129 cone dystrophy 4 MONDO:0015993 OMIM:613093 OMIMPS:120970 cone-rod dystrophy @@ -174,7 +171,7 @@ MONDO:0013821 intellectual disability, autosomal dominant 16 MONDO:0100172 OMIM: MONDO:0013880 facial paresis, hereditary congenital, 3 MONDO:0011090 OMIM:614744 OMIMPS:601471 isolated hereditary congenital facial paralysis MONDO:0013908 thyrotoxic periodic paralysis, susceptibility to, 3 MONDO:0019201 OMIM:614834 OMIMPS:188580 thyrotoxic periodic paralysis MONDO:0013916 nephronophthisis 14 MONDO:0018772 OMIM:614844 OMIMPS:213300 Joubert syndrome -MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 MONDO:0005579 OMIM:614847 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 MONDO:0005579 OMIM:614847 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 MONDO:0000166 OMIM:614849 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0013921 herpes simplex encephalitis, susceptibility to, 4 MONDO:0000166 OMIM:614850 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0013953 immunodeficiency 28 MONDO:0021094 OMIM:614889 OMIMPS:300755 immunodeficiency disease @@ -216,14 +213,11 @@ MONDO:0014668 cardioencephalomyopathy, fatal infantile, due to cytochrome c oxid MONDO:0014680 herpes simplex encephalitis, susceptibility to, 7 MONDO:0000166 OMIM:616532 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0014710 autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency MONDO:0021094 OMIM:616622 OMIMPS:300755 immunodeficiency disease MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection MONDO:0021094 OMIM:616636 OMIMPS:300755 immunodeficiency disease -MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 MONDO:0005579 OMIM:616685 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14 MONDO:0005579 OMIM:616685 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0014838 Coffin-Siris syndrome 5 MONDO:0100172 OMIM:616938 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0014883 hypertrophic cardiomyopathy 26 MONDO:0016340 OMIM:617047 OMIMPS:115210 familial restrictive cardiomyopathy MONDO:0014934 spinocerebellar ataxia, autosomal recessive 24 MONDO:0015244 OMIM:617133 OMIMPS:213200 autosomal recessive cerebellar ataxia MONDO:0018163 autosomal recessive cutis laxa type 2A MONDO:0005500 OMIM:219200 OMIMPS:212065 congenital disorder of glycosylation type I -MONDO:0020630 epileptic encephalopathy, infantile or early childhood, 1 MONDO:0100062 OMIM:617711 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0020631 epileptic encephalopathy, infantile or early childhood, 2 MONDO:0100062 OMIM:617829 OMIMPS:308350 developmental and epileptic encephalopathy -MONDO:0020632 epileptic encephalopathy, infantile or early childhood, 3 MONDO:0100062 OMIM:618012 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0020714 mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy MONDO:0017338 OMIM:251900 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0020759 epilepsy, childhood absence, susceptibility to, 1 MONDO:0010826 OMIM:600131 OMIMPS:600131 childhood absence epilepsy MONDO:0020840 pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0021094 OMIM:618042 OMIMPS:300755 immunodeficiency disease @@ -237,17 +231,17 @@ MONDO:0029140 glycosylphosphatidylinositol biosynthesis defect 18 MONDO:0100062 MONDO:0030071 retinitis pigmentosa 89 MONDO:0019200 OMIM:618955 OMIMPS:268000 retinitis pigmentosa MONDO:0030313 encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 10 MONDO:0000166 OMIM:619396 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0030334 encephalitis, acute, infection (viral)-induced, susceptibility to, 11 MONDO:0000166 OMIM:619441 OMIMPS:610551 encephalopathy, acute, infection-induced -MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18 MONDO:0005579 OMIM:619521 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0030434 epilepsy, idiopathic generalized, susceptibility to, 18 MONDO:0005579 OMIM:619521 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0030872 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 MONDO:0017161 OMIM:619132 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0030875 frontotemporal dementia and/or amyotrophic lateral sclerosis 5 MONDO:0017161 OMIM:619141 OMIMPS:105550 frontotemporal dementia with motor neuron disease MONDO:0030928 microcephaly 26, primary, autosomal dominant MONDO:0016660 OMIM:619179 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0030929 microcephaly 27, primary, autosomal dominant MONDO:0016660 OMIM:619180 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0031008 nephrotic syndrome, type 24 MONDO:0002350 OMIM:619263 OMIMPS:256300 familial nephrotic syndrome MONDO:0032659 mucocutaneous ulceration, chronic MONDO:0031384 OMIM:618287 OMIMPS:616744 autoinflammatory syndrome, familial, Behcet-like -MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0005579 OMIM:618357 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0032699 epilepsy, idiopathic generalized, susceptibility to, 15 MONDO:0005579 OMIM:618357 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0032702 Coffin-Siris syndrome 8 MONDO:0100172 OMIM:618362 OMIMPS:156200 intellectual disability, autosomal dominant MONDO:0032742 encephalopathy, acute, infection-induced, susceptibility to, 9 MONDO:0000166 OMIM:618426 OMIMPS:610551 encephalopathy, acute, infection-induced -MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 MONDO:0005579 OMIM:618596 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0032827 epilepsy, idiopathic generalized, susceptibility to, 16 MONDO:0005579 OMIM:618596 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0032853 myopathy, distal, 6, adult-onset, autosomal dominant MONDO:0018949 OMIM:618655 OMIMPS:160500 distal myopathy MONDO:0032862 hydrocephalus, congenital communicating, 1 MONDO:0016349 OMIM:618667 OMIMPS:236600 congenital hydrocephalus MONDO:0032893 pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures MONDO:0000904 OMIM:618737 OMIMPS:614039 complex cortical dysplasia with other brain malformations @@ -269,7 +263,7 @@ MONDO:0060583 platelet abnormalities with eosinophilia and immune-mediated infla MONDO:0060670 amyotrophic lateral sclerosis, susceptibility to, 25 MONDO:0005144 OMIM:617921 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0060671 epilepsy, juvenile myoclonic, susceptibility to, 10 MONDO:0009696 OMIM:617924 OMIMPS:254770 juvenile myoclonic epilepsy MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 MONDO:0000032 OMIM:602477 OMIMPS:121210 febrile seizures, familial -MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 MONDO:0005579 OMIM:602477 OMIMPS:600669 epilepsy, idiopathic generalized +MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 MONDO:0005579 OMIM:602477 OMIMPS:600669 idiopathic generalized epilepsy MONDO:0100519 epilepsy, idiopathic generalized, susceptibility to, 17 MONDO:0018214 OMIM:602477 OMIMPS:604233 generalized epilepsy with febrile seizures plus MONDO:0800187 immunodeficiency 83, susceptibility to viral infections MONDO:0000166 OMIM:613002 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0800187 immunodeficiency 83, susceptibility to viral infections MONDO:0021094 OMIM:613002 OMIMPS:300755 immunodeficiency disease diff --git a/src/ontology/reports/omim.subclass.confirmed.robot.tsv b/src/ontology/reports/omim.subclass.confirmed.robot.tsv index 4a24d560..daaf2b26 100644 --- a/src/ontology/reports/omim.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/omim.subclass.confirmed.robot.tsv @@ -523,7 +523,6 @@ MONDO:0010316 FG syndrome 3 MONDO:0002010 OMIM:300406 OMIMPS:305450 FG syndrome MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related MONDO:0019181 OMIM:300419 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010318 FG syndrome 4 MONDO:0002010 OMIM:300422 OMIMPS:305450 FG syndrome MONDO:0010320 retinitis pigmentosa 23 MONDO:0019200 OMIM:300424 OMIMPS:268000 retinitis pigmentosa -MONDO:0010321 autism, susceptibility to, X-linked 1 MONDO:0020836 OMIM:300425 OMIMPS:209850 autism, susceptiblity to MONDO:0010322 intellectual disability, X-linked 2 MONDO:0019181 OMIM:300428 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010324 intellectual disability, X-linked 81 MONDO:0019181 OMIM:300433 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:0020119 OMIM:300434 OMIMPS:309510 X-linked syndromic intellectual disability @@ -533,8 +532,6 @@ MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-microgna MONDO:0010336 orofaciodigital syndrome VIII MONDO:0015375 OMIM:300484 OMIMPS:311200 orofaciodigital syndrome MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0020119 OMIM:300486 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0859390 OMIM:300491 OMIMPS:300491 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features -MONDO:0010341 autism, susceptibility to, X-linked 2 MONDO:0020836 OMIM:300495 OMIMPS:209850 autism, susceptiblity to -MONDO:0010342 autism, susceptibility to, X-linked 3 MONDO:0020836 OMIM:300496 OMIMPS:209850 autism, susceptiblity to MONDO:0010344 intellectual disability, X-linked 45 MONDO:0019181 OMIM:300498 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010347 intellectual disability, X-linked 84 MONDO:0019181 OMIM:300505 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010349 ovarian dysgenesis 2 MONDO:0009299 OMIM:300510 OMIMPS:233300 46 XX gonadal dysgenesis @@ -577,10 +574,8 @@ MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect MONDO:0100240 OMIM MONDO:0010435 nystagmus 6, congenital, X-linked MONDO:0005712 OMIM:300814 OMIMPS:310700 congenital nystagmus MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0000732 OMIM:300816 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 MONDO:0100244 OMIM:300818 OMIMPS:300818 paroxysmal nocturnal hemoglobinuria -MONDO:0010440 autism, susceptibility to, X-linked 4 MONDO:0020836 OMIM:300830 OMIMPS:209850 autism, susceptiblity to MONDO:0010447 intellectual disability, X-linked 19 MONDO:0019181 OMIM:300844 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0016820 OMIM:300845 OMIMPS:252350 Moyamoya disease -MONDO:0010449 autism, susceptibility to, X-linked 5 MONDO:0020836 OMIM:300847 OMIMPS:209850 autism, susceptiblity to MONDO:0010450 intellectual disability, X-linked 89 MONDO:0019181 OMIM:300848 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010451 intellectual disability, X-linked 41 MONDO:0019181 OMIM:300849 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010452 intellectual disability, X-linked 90 MONDO:0019181 OMIM:300850 OMIMPS:309530 non-syndromic X-linked intellectual disability @@ -595,7 +590,6 @@ MONDO:0010465 Kabuki syndrome 2 MONDO:0016512 OMIM:300867 OMIMPS:147920 Kabuki s MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0100062 OMIM:300868 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0100247 OMIM:300868 OMIMPS:614080 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0010468 aneurysm, intracranial berry, 5 MONDO:0016483 OMIM:300870 OMIMPS:105800 intracranial berry aneurysm -MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency MONDO:0020836 OMIM:300872 OMIMPS:209850 autism, susceptiblity to MONDO:0010471 Cornelia de Lange syndrome 5 MONDO:0016033 OMIM:300882 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0005500 OMIM:300884 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0100062 OMIM:300884 OMIMPS:308350 developmental and epileptic encephalopathy @@ -669,6 +663,7 @@ MONDO:0010741 tooth agenesis, selective, X-linked, 1 MONDO:0005486 OMIM:313500 O MONDO:0010743 thrombocytopenia 1 MONDO:0100241 OMIM:313900 OMIMPS:313900 inherited thrombocytopenia MONDO:0010758 Wieacker-Wolff syndrome MONDO:0025445 OMIM:314580 OMIMPS:314580 Wieacker-Wolff syndrome (spectrum) MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0019200 OMIM:400004 OMIMPS:268000 retinitis pigmentosa +MONDO:0010763 spermatogenic failure, Y-linked, 1 MONDO:0004983 OMIM:400042 OMIMPS:258150 spermatogenic failure MONDO:0010764 hearing loss, Y-linked 1 MONDO:0033304 OMIM:400043 OMIMPS:400043 nonsyndromic deafness, Y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 MONDO:0004983 OMIM:415000 OMIMPS:258150 spermatogenic failure MONDO:0010806 retinitis pigmentosa 13 MONDO:0019200 OMIM:600059 OMIMPS:268000 retinitis pigmentosa @@ -897,7 +892,6 @@ MONDO:0011608 dermatitis, atopic, 5 MONDO:0100178 OMIM:605844 OMIMPS:603165 derm MONDO:0011609 dermatitis, atopic, 6 MONDO:0100178 OMIM:605845 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011616 holoprosencephaly 6 MONDO:0016296 OMIM:605934 OMIMPS:236100 holoprosencephaly MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 MONDO:0019587 OMIM:606012 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0011627 autism, susceptibility to, 5 MONDO:0020836 OMIM:606053 OMIMPS:209850 autism, susceptiblity to MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0005501 OMIM:606056 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011630 retinitis pigmentosa 28 MONDO:0019200 OMIM:606068 OMIMPS:268000 retinitis pigmentosa MONDO:0011631 hemochromatosis type 4 MONDO:0006507 OMIM:606069 OMIMPS:235200 hereditary hemochromatosis @@ -957,7 +951,6 @@ MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0019064 OMIM:607259 OMIMPS:3 MONDO:0011814 Smith-McCort dysplasia 1 MONDO:0015799 OMIM:607326 OMIMPS:607326 Smith-McCort dysplasia MONDO:0011821 Meckel syndrome, type 3 MONDO:0018921 OMIM:607361 OMIMPS:249000 Meckel syndrome MONDO:0011822 Bartter disease type 3 MONDO:0015231 OMIM:607364 OMIMPS:601678 Bartter syndrome -MONDO:0011824 autism, susceptibility to, 8 MONDO:0020836 OMIM:607373 OMIMPS:209850 autism, susceptiblity to MONDO:0011826 glucocorticoid deficiency 2 MONDO:0008733 OMIM:607398 OMIMPS:202200 familial glucocorticoid deficiency MONDO:0011828 intellectual disability, autosomal recessive 2 MONDO:0019502 OMIM:607417 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0011829 coenzyme Q10 deficiency, primary, 1 MONDO:0018151 OMIM:607426 OMIMPS:607426 coenzyme Q10 deficiency @@ -1003,7 +996,6 @@ MONDO:0011951 amyotrophic lateral sclerosis type 6 MONDO:0005144 OMIM:608030 OMI MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0005144 OMIM:608031 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0000166 OMIM:608033 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 MONDO:0024462 OMIM:608035 OMIMPS:155600 susceptibility to familial cutaneous melanoma -MONDO:0011956 autism, susceptibility to, 3 MONDO:0020836 OMIM:608049 OMIMPS:209850 autism, susceptiblity to MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 OMIM:608051 OMIMPS:136550 macular dystrophy, retinal MONDO:0011963 Joubert syndrome 2 MONDO:0018772 OMIM:608091 OMIMPS:213300 Joubert syndrome MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0005500 OMIM:608093 OMIMPS:212065 congenital disorder of glycosylation type I @@ -1123,7 +1115,6 @@ MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0 MONDO:0012249 Lynch syndrome 2 MONDO:0018630 OMIM:609310 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0012252 rhabdoid tumor predisposition syndrome 1 MONDO:0016473 OMIM:609322 OMIMPS:609322 familial rhabdoid tumor MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema MONDO:0017610 OMIM:609352 OMIMPS:131760 epidermolysis bullosa simplex -MONDO:0012261 autism, susceptibility to, 6 MONDO:0020836 OMIM:609378 OMIMPS:209850 autism, susceptiblity to MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c MONDO:0007614 OMIM:609384 OMIMPS:135700 congenital fibrosis of extraocular muscles MONDO:0012264 preeclampsia/eclampsia 2 MONDO:0005081 OMIM:609402 OMIMPS:189800 preeclampsia MONDO:0012265 preeclampsia/eclampsia 3 MONDO:0005081 OMIM:609403 OMIMPS:189800 preeclampsia @@ -1246,7 +1237,6 @@ MONDO:0012525 Leber congenital amaurosis 12 MONDO:0018998 OMIM:610612 OMIMPS:204 MONDO:0012526 hereditary angioedema type 3 MONDO:0019623 OMIM:610618 OMIMPS:106100 hereditary angioedema MONDO:0012529 Diamond-Blackfan anemia 3 MONDO:0015253 OMIM:610629 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 MONDO:0019180 OMIM:610655 OMIMPS:187300 hereditary hemorrhagic telangiectasia -MONDO:0012533 autism, susceptibility to, 7 MONDO:0020836 OMIM:610676 OMIMPS:209850 autism, susceptiblity to MONDO:0012534 combined oxidative phosphorylation defect type 4 MONDO:0000732 OMIM:610678 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0012539 Joubert syndrome 6 MONDO:0018772 OMIM:610688 OMIMPS:213300 Joubert syndrome MONDO:0012540 age related macular degeneration 4 MONDO:0005150 OMIM:610698 OMIMPS:603075 age-related macular degeneration @@ -1261,20 +1251,15 @@ MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0005500 OMIM:610768 MONDO:0012561 congenital anomalies of kidney and urinary tract 1 MONDO:0019719 OMIM:610805 OMIMPS:610805 congenital anomaly of kidney and urinary tract MONDO:0012562 holoprosencephaly 7 MONDO:0016296 OMIM:610828 OMIMPS:236100 holoprosencephaly MONDO:0012565 Fanconi anemia complementation group N MONDO:0019391 OMIM:610832 OMIMPS:227650 Fanconi anemia -MONDO:0012566 autism, susceptibility to, 11 MONDO:0020836 OMIM:610836 OMIMPS:209850 autism, susceptiblity to -MONDO:0012567 autism, susceptibility to, 12 MONDO:0020836 OMIM:610838 OMIMPS:209850 autism, susceptiblity to MONDO:0012569 mitral valve prolapse, myxomatous 3 MONDO:0008004 OMIM:610840 OMIMPS:157700 familial mitral valve prolapse MONDO:0012571 primary ciliary dyskinesia 6 MONDO:0016575 OMIM:610852 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012573 vesicoureteral reflux 2 MONDO:0017329 OMIM:610878 OMIMPS:193000 familial vesicoureteral reflux MONDO:0012575 branchiootorenal syndrome 2 MONDO:0007029 OMIM:610896 OMIMPS:113650 branchio-oto-renal syndrome MONDO:0012576 supranuclear palsy, progressive, 3 MONDO:0019037 OMIM:610898 OMIMPS:601104 progressive supranuclear palsy -MONDO:0012578 autism, susceptibility to, 13 MONDO:0020836 OMIM:610908 OMIMPS:209850 autism, susceptiblity to MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0012580 OMIM:610921 OMIMPS:265120 hereditary pulmonary alveolar proteinosis MONDO:0012583 tooth agenesis, selective, 5 MONDO:0005486 OMIM:610926 OMIMPS:106600 tooth agenesis MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0016295 OMIM:610951 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0012598 fibromatosis, gingival, 4 MONDO:0016070 OMIM:611010 OMIMPS:135300 hereditary gingival fibromatosis -MONDO:0012600 autism, susceptibility to, 9 MONDO:0020836 OMIM:611015 OMIMPS:209850 autism, susceptiblity to -MONDO:0012601 autism, susceptibility to, 10 MONDO:0020836 OMIM:611016 OMIMPS:209850 autism, susceptiblity to MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 MONDO:0019588 OMIM:611022 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0044202 OMIM:611031 OMIMPS:128200 episodic kinesigenic dyskinesia MONDO:0012604 isolated microphthalmia 3 MONDO:0000062 OMIM:611038 OMIMPS:251600 isolated microphthalmia @@ -1371,7 +1356,6 @@ MONDO:0012793 hypouricemia, renal, 2 MONDO:0968951 OMIM:612076 OMIMPS:220150 hyp MONDO:0012796 retinitis pigmentosa 41 MONDO:0019200 OMIM:612095 OMIMPS:268000 retinitis pigmentosa MONDO:0012797 otosclerosis 8 MONDO:0005349 OMIM:612096 OMIMPS:166800 otosclerosis MONDO:0012799 hypertrophic cardiomyopathy 11 MONDO:0024573 OMIM:612098 OMIMPS:192600 familial hypertrophic cardiomyopathy -MONDO:0012801 autism, susceptibility to, 15 MONDO:0020836 OMIM:612100 OMIMPS:209850 autism, susceptiblity to MONDO:0012804 hypertrophic cardiomyopathy 12 MONDO:0024573 OMIM:612124 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000188 OMIM:612126 OMIMPS:606777 GLUT1 deficiency syndrome MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 OMIM:612132 OMIMPS:300291 ectodermal dysplasia and immune deficiency @@ -1577,12 +1561,10 @@ MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 MONDO:0019588 OMI MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 MONDO:0100526 OMIM:613399 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0013254 microcephaly, seizures, and developmental delay MONDO:0100062 OMIM:613402 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0017123 OMIM:613404 OMIMPS:208085 arthrogryposis-renal dysfunction-cholestasis syndrome -MONDO:0013258 autism, susceptibility to, 16 MONDO:0020836 OMIM:613410 OMIMPS:209850 autism, susceptiblity to MONDO:0013261 dilated cardiomyopathy 1R MONDO:0018901 OMIM:613424 OMIMPS:604169 left ventricular noncompaction MONDO:0013262 dilated cardiomyopathy 1S MONDO:0018901 OMIM:613426 OMIMPS:604169 left ventricular noncompaction MONDO:0013263 retinitis pigmentosa 54 MONDO:0019200 OMIM:613428 OMIMPS:268000 retinitis pigmentosa MONDO:0013264 amyotrophic lateral sclerosis type 12 MONDO:0005144 OMIM:613435 OMIMPS:105400 familial amyotrophic lateral sclerosis -MONDO:0013265 autism, susceptibility to, 17 MONDO:0020836 OMIM:613436 OMIMPS:209850 autism, susceptiblity to MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0016643 OMIM:613451 OMIMPS:136760 frontonasal dysplasia MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 MONDO:0019588 OMIM:613453 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0016643 OMIM:613456 OMIMPS:136760 frontonasal dysplasia @@ -1979,7 +1961,6 @@ MONDO:0014006 Schuurs-Hoeijmakers syndrome MONDO:0100172 OMIM:615009 OMIMPS:1562 MONDO:0014007 Aicardi-Goutieres syndrome 6 MONDO:0018866 OMIM:615010 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0017610 OMIM:615028 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0019064 OMIM:615030 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0020836 OMIM:615032 OMIMPS:209850 autism, susceptiblity to MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement MONDO:0018319 OMIM:615040 OMIMPS:615040 familial episodic pain syndrome MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 MONDO:0000171 OMIM:615041 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0005500 OMIM:615042 OMIMPS:212065 congenital disorder of glycosylation type I @@ -1991,7 +1972,6 @@ MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing MONDO:0014037 spermatogenic failure 11 MONDO:0004983 OMIM:615081 OMIMPS:258150 spermatogenic failure MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0018158 OMIM:615084 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0019026 OMIM:615085 OMIMPS:259700 autosomal recessive osteopetrosis -MONDO:0014041 autism, susceptibility to, 19 MONDO:0020836 OMIM:615091 OMIMPS:209850 autism, susceptiblity to MONDO:0014042 left ventricular noncompaction 7 MONDO:0018901 OMIM:615092 OMIMPS:604169 left ventricular noncompaction MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:0016660 OMIM:615095 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014046 Cowden syndrome 4 MONDO:0016063 OMIM:615107 OMIMPS:158350 Cowden disease @@ -2531,6 +2511,9 @@ MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 OMIM:278000 OMIMPS MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 OMIM:603896 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0020607 Liddle syndrome 1 MONDO:0008323 OMIM:177200 OMIMPS:177200 Liddle syndrome MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 MONDO:0020629 OMIM:618097 OMIMPS:210900 microcephaly, growth restriction and increased sister chromatid exchange +MONDO:0020630 developmental and epileptic encephalopathy 91 MONDO:0100062 OMIM:617711 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0020631 developmental and epileptic encephalopathy 92 MONDO:0100062 OMIM:617829 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0020632 developmental and epileptic encephalopathy 93 MONDO:0100062 OMIM:618012 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 OMIM:400044 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0020713 pulmonary venoocclusive disease 1 MONDO:0009937 OMIM:265450 OMIMPS:265450 pulmonary venoocclusive disease MONDO:0020716 thyroid dyshormonogenesis 1 MONDO:0010132 OMIM:274400 OMIMPS:274400 familial thyroid dyshormonogenesis @@ -2707,7 +2690,6 @@ MONDO:0029145 orofacial cleft 8 MONDO:0000358 OMIM:618149 OMIMPS:119530 orofacia MONDO:0029147 spermatogenic failure 33 MONDO:0004983 OMIM:618152 OMIMPS:258150 spermatogenic failure MONDO:0029148 spermatogenic failure 34 MONDO:0004983 OMIM:618153 OMIMPS:258150 spermatogenic failure MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 MONDO:0100172 OMIM:617863 OMIMPS:156200 intellectual disability, autosomal dominant -MONDO:0030004 autism, susceptibility to, 20 MONDO:0020836 OMIM:618830 OMIMPS:209850 autism, susceptiblity to MONDO:0030005 epilepsy, early-onset, with or without developmental delay MONDO:0957599 OMIM:618832 OMIMPS:617290 epilepsy, early-onset MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000732 OMIM:618835 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030007 combined oxidative phosphorylation deficiency 41 MONDO:0000732 OMIM:618838 OMIMPS:609060 combined oxidative phosphorylation deficiency @@ -3455,6 +3437,7 @@ MONDO:0054852 peeling skin syndrome 6 MONDO:0019347 OMIM:618084 OMIMPS:270300 pe MONDO:0054860 hearing loss, autosomal recessive 110 MONDO:0019588 OMIM:618094 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0054861 intellectual disability, autosomal recessive 63 MONDO:0019502 OMIM:618095 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0054862 premature ovarian failure 15 MONDO:0019852 OMIM:618096 OMIMPS:311360 inherited primary ovarian failure +MONDO:0056795 X-linked spermatogenic failure 1 MONDO:0004983 OMIM:305700 OMIMPS:258150 spermatogenic failure MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MONDO:0015168 OMIM:617468 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0020831 OMIM:617660 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0020831 OMIM:617661 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome @@ -3652,6 +3635,7 @@ MONDO:0957301 spermatogenic failure 84 MONDO:0004983 OMIM:620409 OMIMPS:258150 s MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 OMIM:620411 OMIMPS:144200 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 OMIM:620416 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 OMIM:620417 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0957314 retinitis pigmentosa 97 MONDO:0019200 OMIM:620422 OMIMPS:268000 retinitis pigmentosa MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 MONDO:0017338 OMIM:620423 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0957385 dystonia 37, early-onset, with striatal lesions MONDO:0044807 OMIM:620427 OMIMPS:128100 inherited dystonia MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 MONDO:0000213 OMIM:620430 OMIMPS:615952 autoimmune disease, multisystem, infantile-onset diff --git a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv index eec664ee..f6800d4c 100644 --- a/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv +++ b/src/ontology/reports/omim_exclusion_reasons.robot.template.tsv @@ -3148,6 +3148,11 @@ OMIM:301122 MONDO:excludeGene OMIM:301123 MONDO:excludeGene OMIM:301124 MONDO:excludeGene OMIM:301125 MONDO:excludeGene +OMIM:301126 MONDO:excludeGene +OMIM:301128 MONDO:excludeGene +OMIM:301129 MONDO:excludeGene +OMIM:301130 MONDO:excludeGene +OMIM:301131 MONDO:excludeGene OMIM:301300 MONDO:excludeGene OMIM:301770 MONDO:excludeGene OMIM:301780 MONDO:excludeGene @@ -17648,6 +17653,24 @@ OMIM:620963 MONDO:excludeGene OMIM:620965 MONDO:excludeGene OMIM:620966 MONDO:excludeGene OMIM:620967 MONDO:excludeGene +OMIM:620970 MONDO:excludeGene +OMIM:620972 MONDO:excludeGene +OMIM:620973 MONDO:excludeGene +OMIM:620974 MONDO:excludeGene +OMIM:620976 MONDO:excludeGene +OMIM:620979 MONDO:excludeGene +OMIM:620980 MONDO:excludeGene +OMIM:620981 MONDO:excludeGene +OMIM:620982 MONDO:excludeGene +OMIM:620986 MONDO:excludeGene +OMIM:620989 MONDO:excludeGene +OMIM:620992 MONDO:excludeGene +OMIM:620993 MONDO:excludeGene +OMIM:620994 MONDO:excludeGene +OMIM:620995 MONDO:excludeGene +OMIM:620997 MONDO:excludeGene +OMIM:620998 MONDO:excludeGene +OMIM:621000 MONDO:excludeGene OMIMPS:151623 MONDO:excludeGrouping OMIM:100640 MONDO:excludeNonDisease OMIM:100660 MONDO:excludeNonDisease @@ -17656,6 +17679,7 @@ OMIM:100790 MONDO:excludeNonDisease OMIM:100880 MONDO:excludeNonDisease OMIM:102525 MONDO:excludeNonDisease OMIM:102577 MONDO:excludeNonDisease +OMIM:102578 MONDO:excludeNonDisease OMIM:102581 MONDO:excludeNonDisease OMIM:102593 MONDO:excludeNonDisease OMIM:102595 MONDO:excludeNonDisease @@ -18844,7 +18868,6 @@ OMIM:188411 MONDO:excludeNonDisease OMIM:188595 MONDO:excludeNonDisease OMIM:188825 MONDO:excludeNonDisease OMIM:188855 MONDO:excludeNonDisease -OMIM:188860 MONDO:excludeNonDisease OMIM:189880 MONDO:excludeNonDisease OMIM:189889 MONDO:excludeNonDisease OMIM:189890 MONDO:excludeNonDisease @@ -18988,7 +19011,6 @@ OMIM:300024 MONDO:excludeNonDisease OMIM:300025 MONDO:excludeNonDisease OMIM:300026 MONDO:excludeNonDisease OMIM:300027 MONDO:excludeNonDisease -OMIM:300028 MONDO:excludeNonDisease OMIM:300031 MONDO:excludeNonDisease OMIM:300033 MONDO:excludeNonDisease OMIM:300034 MONDO:excludeNonDisease @@ -19465,6 +19487,11 @@ OMIM:301122 MONDO:excludeNonDisease OMIM:301123 MONDO:excludeNonDisease OMIM:301124 MONDO:excludeNonDisease OMIM:301125 MONDO:excludeNonDisease +OMIM:301126 MONDO:excludeNonDisease +OMIM:301128 MONDO:excludeNonDisease +OMIM:301129 MONDO:excludeNonDisease +OMIM:301130 MONDO:excludeNonDisease +OMIM:301131 MONDO:excludeNonDisease OMIM:301780 MONDO:excludeNonDisease OMIM:302020 MONDO:excludeNonDisease OMIM:302650 MONDO:excludeNonDisease @@ -21075,7 +21102,6 @@ OMIM:603108 MONDO:excludeNonDisease OMIM:603110 MONDO:excludeNonDisease OMIM:603112 MONDO:excludeNonDisease OMIM:603114 MONDO:excludeNonDisease -OMIM:603115 MONDO:excludeNonDisease OMIM:603118 MONDO:excludeNonDisease OMIM:603120 MONDO:excludeNonDisease OMIM:603124 MONDO:excludeNonDisease @@ -21778,6 +21804,7 @@ OMIM:604430 MONDO:excludeNonDisease OMIM:604438 MONDO:excludeNonDisease OMIM:604440 MONDO:excludeNonDisease OMIM:604441 MONDO:excludeNonDisease +OMIM:604443 MONDO:excludeNonDisease OMIM:604444 MONDO:excludeNonDisease OMIM:604445 MONDO:excludeNonDisease OMIM:604446 MONDO:excludeNonDisease @@ -27291,7 +27318,6 @@ OMIM:614797 MONDO:excludeNonDisease OMIM:614798 MONDO:excludeNonDisease OMIM:614799 MONDO:excludeNonDisease OMIM:614801 MONDO:excludeNonDisease -OMIM:614802 MONDO:excludeNonDisease OMIM:614803 MONDO:excludeNonDisease OMIM:614804 MONDO:excludeNonDisease OMIM:614805 MONDO:excludeNonDisease @@ -27581,7 +27607,6 @@ OMIM:615509 MONDO:excludeNonDisease OMIM:615514 MONDO:excludeNonDisease OMIM:615519 MONDO:excludeNonDisease OMIM:615520 MONDO:excludeNonDisease -OMIM:615525 MONDO:excludeNonDisease OMIM:615526 MONDO:excludeNonDisease OMIM:615531 MONDO:excludeNonDisease OMIM:615536 MONDO:excludeNonDisease @@ -28058,7 +28083,6 @@ OMIM:616597 MONDO:excludeNonDisease OMIM:616598 MONDO:excludeNonDisease OMIM:616599 MONDO:excludeNonDisease OMIM:616600 MONDO:excludeNonDisease -OMIM:616601 MONDO:excludeNonDisease OMIM:616605 MONDO:excludeNonDisease OMIM:616607 MONDO:excludeNonDisease OMIM:616608 MONDO:excludeNonDisease @@ -28538,7 +28562,6 @@ OMIM:617543 MONDO:excludeNonDisease OMIM:617544 MONDO:excludeNonDisease OMIM:617545 MONDO:excludeNonDisease OMIM:617546 MONDO:excludeNonDisease -OMIM:617548 MONDO:excludeNonDisease OMIM:617549 MONDO:excludeNonDisease OMIM:617550 MONDO:excludeNonDisease OMIM:617551 MONDO:excludeNonDisease @@ -29787,6 +29810,7 @@ OMIM:620473 MONDO:excludeNonDisease OMIM:620474 MONDO:excludeNonDisease OMIM:620476 MONDO:excludeNonDisease OMIM:620477 MONDO:excludeNonDisease +OMIM:620479 MONDO:excludeNonDisease OMIM:620480 MONDO:excludeNonDisease OMIM:620485 MONDO:excludeNonDisease OMIM:620487 MONDO:excludeNonDisease @@ -30084,6 +30108,22 @@ OMIM:620963 MONDO:excludeNonDisease OMIM:620965 MONDO:excludeNonDisease OMIM:620966 MONDO:excludeNonDisease OMIM:620967 MONDO:excludeNonDisease +OMIM:620972 MONDO:excludeNonDisease +OMIM:620973 MONDO:excludeNonDisease +OMIM:620976 MONDO:excludeNonDisease +OMIM:620979 MONDO:excludeNonDisease +OMIM:620980 MONDO:excludeNonDisease +OMIM:620981 MONDO:excludeNonDisease +OMIM:620982 MONDO:excludeNonDisease +OMIM:620986 MONDO:excludeNonDisease +OMIM:620989 MONDO:excludeNonDisease +OMIM:620992 MONDO:excludeNonDisease +OMIM:620993 MONDO:excludeNonDisease +OMIM:620994 MONDO:excludeNonDisease +OMIM:620995 MONDO:excludeNonDisease +OMIM:620997 MONDO:excludeNonDisease +OMIM:620998 MONDO:excludeNonDisease +OMIM:621000 MONDO:excludeNonDisease OMIM:123270 MONDO:excludePhenotype OMIM:130180 MONDO:excludePhenotype OMIM:131500 MONDO:excludePhenotype @@ -34957,6 +34997,11 @@ OMIM:301122 MONDO:nonDisease OMIM:301123 MONDO:nonDisease OMIM:301124 MONDO:nonDisease OMIM:301125 MONDO:nonDisease +OMIM:301126 MONDO:nonDisease +OMIM:301128 MONDO:nonDisease +OMIM:301129 MONDO:nonDisease +OMIM:301130 MONDO:nonDisease +OMIM:301131 MONDO:nonDisease OMIM:301300 MONDO:nonDisease OMIM:301770 MONDO:nonDisease OMIM:301780 MONDO:nonDisease @@ -49271,3 +49316,21 @@ OMIM:620963 MONDO:nonDisease OMIM:620965 MONDO:nonDisease OMIM:620966 MONDO:nonDisease OMIM:620967 MONDO:nonDisease +OMIM:620970 MONDO:nonDisease +OMIM:620972 MONDO:nonDisease +OMIM:620973 MONDO:nonDisease +OMIM:620974 MONDO:nonDisease +OMIM:620976 MONDO:nonDisease +OMIM:620979 MONDO:nonDisease +OMIM:620980 MONDO:nonDisease +OMIM:620981 MONDO:nonDisease +OMIM:620982 MONDO:nonDisease +OMIM:620986 MONDO:nonDisease +OMIM:620989 MONDO:nonDisease +OMIM:620992 MONDO:nonDisease +OMIM:620993 MONDO:nonDisease +OMIM:620994 MONDO:nonDisease +OMIM:620995 MONDO:nonDisease +OMIM:620997 MONDO:nonDisease +OMIM:620998 MONDO:nonDisease +OMIM:621000 MONDO:nonDisease diff --git a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv index 2a3a77e0..684ba986 100644 --- a/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/omim_mapped_deprecated_terms.robot.template.tsv @@ -2,6 +2,7 @@ mondo_id source_id source ID A oboInOwl:hasDbXref >A oboInOwl:source MONDO:0000911 OMIM:613740 MONDO:equivalentObsolete MONDO:0007061 OMIM:102590 MONDO:equivalentObsolete +MONDO:0007066 OMIM:102800 MONDO:equivalentObsolete MONDO:0007602 OMIM:134700 MONDO:equivalentObsolete MONDO:0007659 OMIM:137560 MONDO:equivalentObsolete MONDO:0007779 OMIM:145410 MONDO:equivalentObsolete diff --git a/src/ontology/reports/omim_mapping_status.tsv b/src/ontology/reports/omim_mapping_status.tsv index 1c64085f..afeae228 100644 --- a/src/ontology/reports/omim_mapping_status.tsv +++ b/src/ontology/reports/omim_mapping_status.tsv @@ -1,4 +1,7 @@ subject_id subject_label is_mapped is_excluded is_deprecated +OMIM:301127 arthrogryposis multiplex congenita 7, X-linked False False False +OMIM:301132 orofaciodigital syndrome 21 False False False +OMIM:301134 intellectual developmental disorder, X-linked 114 False False False OMIM:620937 kariminejad-reversade neurodevelopmental syndrome False False False OMIM:620938 spastic paraplegia 93, autosomal recessive False False False OMIM:620939 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities False False False @@ -13,6 +16,23 @@ OMIM:620960 multiple mitochondrial dysfunctions syndrome 10 False False False OMIM:620962 cholestasis, progressive familial intrahepatic, 13 False False False OMIM:620964 congenital myopathy 25 False False False OMIM:620968 microphthalmia/coloboma 13 False False False +OMIM:620969 anemia, congenital dyserythropoietic, type ivb False False False +OMIM:620971 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 False False False +OMIM:620975 blood group, anton system False False False +OMIM:620977 immunodeficiency 127 False False False +OMIM:620978 leukodystrophy, hypomyelinating, 28 False False False +OMIM:620983 immunodeficiency 128 False False False +OMIM:620984 bronchiectasis and nasal polyposis False False False +OMIM:620985 karayol-borroto-haghshenas neurodevelopmental syndrome False False False +OMIM:620987 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities False False False +OMIM:620988 intellectual developmental disorder, autosomal dominant 75 False False False +OMIM:620990 acth-independent macronodular adrenal hyperplasia 3 False False False +OMIM:620991 pancreatic agenesis 3 False False False +OMIM:620996 retinitis pigmentosa 98 False False False +OMIM:620999 fibromatosis, gingival, 6 False False False +OMIM:621001 spermatogenic failure 96 False False False +OMIM:621002 premature ovarian failure 25 False False False +OMIMPS:219080 ACTH-independent macronodular adrenal hyperplasia False False False OMIMPS:236270 Homocystinuria-megaloblastic anemia False False False OMIMPS:251000 Methylmalonic aciduria False False False OMIMPS:616255 Short stature with nonspecific skeletal abnormalities False False False @@ -2265,8 +2285,8 @@ OMIM:139390 GNB2 False True False OMIM:139391 GNGT2 False True False OMIM:139392 GUCA2A False True False OMIM:139395 GNAT3 False True False -OMIM:139396 GUCY1A3 False True False -OMIM:139397 GUCY1B3 False True False +OMIM:139396 GUCY1A1 False True False +OMIM:139397 GUCY1B1 False True False OMIM:139605 HES1 False True False OMIM:140050 GZMA False True False OMIM:140100 HP False True False @@ -4528,6 +4548,11 @@ 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:301126 SYTL5 False True False +OMIM:301128 TRMT2B False True False +OMIM:301129 SATL1 False True False +OMIM:301130 RTL3 False True False +OMIM:301131 RTL4 False True False OMIM:301300 ALAS2 False True False OMIM:301770 ARR3 False True False OMIM:301780 ARSC2 False True False @@ -6377,7 +6402,7 @@ OMIM:602334 EMP2 False True False OMIM:602335 EMP3 False True False OMIM:602336 ROR1 False True False OMIM:602337 ROR2 False True False -OMIM:602338 PRPF4B False True False +OMIM:602338 PRP4K False True False OMIM:602339 SLC15A2 False True False OMIM:602341 FOXM1 False True False OMIM:602343 TRPC1 False True False @@ -11792,7 +11817,7 @@ OMIM:608942 DYNLL2 False True False OMIM:608943 CIAPIN1 False True False OMIM:608944 FREM1 False True False OMIM:608945 FREM2 False True False -OMIM:608946 fras1-related extracellular matrix protein 3 False True False +OMIM:608946 FREM3 False True False OMIM:608947 KCTD13 False True False OMIM:608948 ZIC4 False True False OMIM:608949 GLTP False True False @@ -12948,7 +12973,7 @@ OMIM:610468 IFI44 False True False OMIM:610469 AP3M2 False True False OMIM:610470 TRPT1 False True False OMIM:610471 VASH2 False True False -OMIM:610472 AYTL2 False True False +OMIM:610472 LPCAT1 False True False OMIM:610473 LPGAT1 False True False OMIM:610477 TMPRSS9 False True False OMIM:610479 SRFBP1 False True False @@ -14263,8 +14288,8 @@ OMIM:612093 MIR141 False True False OMIM:612094 MIRN429 False True False OMIM:612101 PI4K2B False True False OMIM:612102 MIRNLET7G False True False -OMIM:612103 OBFC2A False True False -OMIM:612104 OBFC2B False True False +OMIM:612103 NABP1 False True False +OMIM:612104 NABP2 False True False OMIM:612105 KLLN False True False OMIM:612106 ZBTB40 False True False OMIM:612107 SLC17A9 False True False @@ -19075,6 +19100,24 @@ OMIM:620963 ZDHHC18 False True False OMIM:620965 SVIP False True False OMIM:620966 TLCD1 False True False OMIM:620967 TLCD2 False True False +OMIM:620970 ZNF808 False True False +OMIM:620972 ZNF608 False True False +OMIM:620973 SYTL3 False True False +OMIM:620974 ZNF862 False True False +OMIM:620976 ZNF740 False True False +OMIM:620979 TRIML1 False True False +OMIM:620980 ZNF414 False True False +OMIM:620981 ZNF697 False True False +OMIM:620982 ZNF385C False True False +OMIM:620986 TSNARE1 False True False +OMIM:620989 SERPINE3 False True False +OMIM:620992 SLTM False True False +OMIM:620993 CHASERR False True False +OMIM:620994 RUFY4 False True False +OMIM:620995 SETD4 False True False +OMIM:620997 SEMA3G False True False +OMIM:620998 ZNF230 False True False +OMIM:621000 SNX18 False True False OMIMPS:151623 Li-Fraumeni syndrome False True False OMIM:616915 removed from database False True True OMIM:100070 aortic aneurysm, familial abdominal, 1 True False False @@ -19100,7 +19143,6 @@ OMIM:102500 hajdu-cheney syndrome True False False OMIM:102510 acropectorovertebral dysplasia True False False OMIM:102530 spermatogenic failure 6 True False False OMIM:102700 severe combined immunodeficiency, autosomal recessive, t cell-negative, B cell-negative, nk cell-negative, due to adenosine deaminase deficiency True False False -OMIM:102800 adenosine triphosphatase deficiency, anemia due to True False False OMIM:102900 adenosine triphosphate, elevated, of erythrocytes True False False OMIM:103050 adenylosuccinase deficiency True False False OMIM:103100 adie pupil True False False @@ -20488,7 +20530,7 @@ OMIM:230000 fucosidosis True False False OMIM:230200 galactosemia 2 True False False OMIM:230350 galactosemia 3 True False False OMIM:230400 galactosemia 1 True False False -OMIM:230450 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to True False False +OMIM:230450 anemia, congenital, nonspherocytic hemolytic, 7 True False False OMIM:230500 gm1-gangliosidosis, type 1 True False False OMIM:230600 gm1-gangliosidosis, type 2 True False False OMIM:230650 gm1-gangliosidosis, type 3 True False False @@ -20508,7 +20550,7 @@ OMIM:231550 achalasia-addisonianism-alacrima syndrome True False False OMIM:231670 glutaric acidemia 1 True False False OMIM:231680 multiple acyl-coa dehydrogenase deficiency True False False OMIM:231690 glutaric aciduria 3 True False False -OMIM:231900 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to True False False +OMIM:231900 anemia, congenital, nonspherocytic hemolytic, 6 True False False OMIM:231950 glutathionuria True False False OMIM:232200 glycogen storage disease ia True False False OMIM:232220 glycogen storage disease ib True False False @@ -20543,7 +20585,7 @@ OMIM:235400 hemolytic uremic syndrome, atypical, susceptibility to, 1 True False OMIM:235510 hennekam lymphangiectasia-lymphedema syndrome 1 True False False OMIM:235550 hepatic venoocclusive disease with immunodeficiency True False False OMIM:235555 bile acid synthesis defect, congenital, 2 True False False -OMIM:235700 hemolytic anemia, nonspherocytic, due to hexokinase deficiency True False False +OMIM:235700 anemia, congenital, nonspherocytic hemolytic, 5 True False False OMIM:235730 mowat-wilson syndrome True False False OMIM:235800 histidinemia True False False OMIM:235830 histidinuria due to a renal tubular defect True False False @@ -20936,11 +20978,11 @@ OMIM:265850 pygmy True False False OMIM:265900 pyle disease True False False OMIM:265950 pyloric atresia True False False OMIM:266100 epilepsy, early-onset, 4, vitamin b6-dependent True False False -OMIM:266120 uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to True False False +OMIM:266120 anemia, congenital, nonspherocytic hemolytic, 8 True False False OMIM:266130 glutathione synthetase deficiency True False False OMIM:266140 pyropoikilocytosis, hereditary True False False OMIM:266150 pyruvate carboxylase deficiency True False False -OMIM:266200 pyruvate kinase deficiency of red cells True False False +OMIM:266200 anemia, congenital, nonspherocytic hemolytic, 2 True False False OMIM:266250 radiculoneuropathy, fatal neonatal True False False OMIM:266265 congenital disorder of glycosylation, type iic True False False OMIM:266280 rapadilino syndrome True False False @@ -21337,7 +21379,7 @@ OMIM:300894 neurodegeneration with brain iron accumulation 5 True False False OMIM:300895 ohdo syndrome, X-linked True False False OMIM:300896 congenital disorder of glycosylation, type iim True False False OMIM:300905 charcot-marie-tooth disease, X-linked dominant, 6 True False False -OMIM:300908 anemia, nonspherocytic hemolytic, due to g6pd deficiency True False False +OMIM:300908 anemia, congenital, nonspherocytic hemolytic, 1 True False False OMIM:300909 angioedema induced by ace inhibitors, susceptibility to True False False OMIM:300911 parkinsonism with spasticity, X-linked True False False OMIM:300912 intellectual developmental disorder, X-linked 98 True False False @@ -21353,7 +21395,7 @@ OMIM:300943 pituitary adenoma 2, growth hormone-secreting True False False OMIM:300946 diamond-blackfan anemia 14 with mandibulofacial dysostosis True False False OMIM:300952 linear skin defects with multiple congenital anomalies 3 True False False OMIM:300953 trichothiodystrophy 5, nonphotosensitive True False False -OMIM:300957 intellectual developmental disorder, X-linked 12 True False False +OMIM:300957 intellectual developmental disorder, x-linked, syndromic, kumar type True False False OMIM:300958 intellectual developmental disorder, x-linked, syndromic, snijders blok type True False False OMIM:300960 mend syndrome True False False OMIM:300963 ritscher-schinzel syndrome 2 True False False @@ -21424,7 +21466,7 @@ OMIM:301078 immunodeficiency 98 with autoinflammation, X-linked True False False OMIM:301080 systemic lupus erythematosus 17 True False False OMIM:301081 autoinflammatory disease, systemic, X-linked True False False OMIM:301082 immunodeficiency 102 True False False -OMIM:301083 adenosine deaminase, elevated, hemolytic anemia due to True False False +OMIM:301083 anemia, congenital, nonspherocytic hemolytic, 9 True False False OMIM:301091 epilepsy, X-linked 2, with or without impaired intellectual development and dysmorphic features True False False OMIM:301094 hijazi-reis syndrome True False False OMIM:301095 intellectual developmental disorder, X-linked 110 True False False @@ -22819,7 +22861,7 @@ OMIM:609428 tukel syndrome True False False OMIM:609432 syndactyly, mesoaxial synostotic, with phalangeal reduction True False False OMIM:609439 deafness, autosomal recessive 48 True False False OMIM:609441 acromesomelic dysplasia 3 True False False -OMIM:609446 paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy True False False +OMIM:609446 paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy True False False OMIM:609452 myopathy, myofibrillar, 4 True False False OMIM:609454 supranuclear palsy, progressive, 2 True False False OMIM:609460 goldberg-shprintzen syndrome True False False @@ -23470,7 +23512,7 @@ OMIM:612624 microvascular complications of diabetes, susceptibility to, 3 True F OMIM:612626 chromosome 15q26-qter deletion syndrome True False False OMIM:612627 seizures, benign familial infantile, 4 True False False OMIM:612628 microvascular complications of diabetes, susceptibility to, 4 True False False -OMIM:612631 adenylate kinase deficiency, hemolytic anemia due to True False False +OMIM:612631 anemia, congenital, nonspherocytic hemolytic, 3 True False False OMIM:612632 usher syndrome, type 1h True False False OMIM:612633 microvascular complications of diabetes, susceptibility to, 5 True False False OMIM:612634 microvascular complications of diabetes, susceptibility to, 6 True False False @@ -23769,7 +23811,7 @@ OMIM:613456 frontonasal dysplasia 3 True False False OMIM:613457 chromosome 14q11-q22 deletion syndrome True False False OMIM:613458 chromosome 16p13.3 duplication syndrome True False False OMIM:613464 retinitis pigmentosa 51 True False False -OMIM:613470 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency True False False +OMIM:613470 anemia, congenital, nonspherocytic hemolytic, 4 True False False OMIM:613471 reynolds syndrome True False False OMIM:613477 developmental and epileptic encephalopathy 5 True False False OMIM:613480 lymphatic malformation 3 True False False @@ -23845,7 +23887,7 @@ OMIM:613668 microcephaly, postnatal progressive, with seizures and brain atrophy OMIM:613670 intellectual developmental disorder with language impairment and with or without autistic features True False False OMIM:613671 impaired intellectual development, anterior maxillary protrusion, and strabismus True False False OMIM:613672 spastic ataxia 4, autosomal recessive True False False -OMIM:613673 anemia, congenital dyserythropoietic, type 4 True False False +OMIM:613673 anemia, congenital dyserythropoietic, type iva True False False OMIM:613674 vesicoureteral reflux 3 True False False OMIM:613675 chromosome 17q11.2 deletion syndrome, 1.4-mb True False False OMIM:613676 seckel syndrome 4 True False False @@ -25099,7 +25141,7 @@ OMIM:616409 developmental and epileptic encephalopathy 33 True False False OMIM:616410 spinocerebellar ataxia 41 True False False OMIM:616411 dystonia 27 True False False OMIM:616413 basal ganglia calcification, idiopathic, 6 True False False -OMIM:616414 autoimmune interstitial lung, joint, and kidney disease True False False +OMIM:616414 autoinflammation and autoimmunity, systemic, with immune dysregulation True False False OMIM:616415 familial adenomatous polyposis 3 True False False OMIM:616418 hypomagnesemia, seizures, and impaired intellectual development 1 True False False OMIM:616420 leukodystrophy, hypomyelinating, 10 True False False @@ -25516,7 +25558,7 @@ OMIM:617396 anauxetic dysplasia 2 True False False OMIM:617397 pseudo-torch syndrome 2 True False False OMIM:617402 cutis laxa, autosomal recessive, type 2c True False False OMIM:617403 cutis laxa, autosomal recessive, type 2d True False False -OMIM:617404 muscular dystrophy, congenital, with cataracts and intellectual disability True False False +OMIM:617404 muscular dystrophy, congenital, with cataracts and impaired intellectual development True False False OMIM:617405 short-rib thoracic dysplasia 17 with or without polydactyly True False False OMIM:617406 bardet-biedl syndrome 21 True False False OMIM:617408 diamond-blackfan anemia 16 True False False @@ -26131,7 +26173,7 @@ OMIM:618654 congenital myopathy 8 True False False OMIM:618655 myopathy, distal, 6, adult-onset, autosomal dominant True False False OMIM:618658 zimmermann-laband syndrome 3 True False False OMIM:618659 neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies True False False -OMIM:618660 hemolytic anemia due to glutathione reductase deficiency True False False +OMIM:618660 anemia, congenital, nonspherocytic hemolytic, 10 True False False OMIM:618662 diarrhea 11, malabsorptive, congenital True False False OMIM:618663 developmental and epileptic encephalopathy 81 True False False OMIM:618664 spermatogenic failure 40 True False False @@ -26903,7 +26945,7 @@ OMIM:620126 pseudohypoaldosteronism, type ib3, autosomal recessive True False Fa OMIM:620133 dyskeratosis congenita, autosomal recessive 8 True False False OMIM:620135 mitochondrial complex 1 deficiency, nuclear type 39 True False False OMIM:620137 mitochondrial complex 3 deficiency, nuclear type 11 True False False -OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis True False False +OMIM:620138 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 True False False OMIM:620139 combined oxidative phosphorylation deficiency 56 True False False OMIM:620141 developmental delay, language impairment, and ocular abnormalities True False False OMIM:620145 developmental and epileptic encephalopathy 109 True False False @@ -27480,7 +27522,7 @@ OMIMPS:208085 Arthrogryposis, renal dysfunction, and cholestasis True False Fals OMIMPS:208150 Fetal akinesia deformation sequence True False False OMIMPS:208500 Short-rib thoracic dysplasia True False False OMIMPS:208540 Renal-hepatic-pancreatic dysplasia True False False -OMIMPS:209850 Autism, susceptiblity to True False False +OMIMPS:209850 True False False OMIMPS:209880 Central hypoventilation syndrome, congenital True False False OMIMPS:209900 Bardet-Biedl syndrome True False False OMIMPS:209920 MHC class II deficiency True False False @@ -27837,6 +27879,7 @@ OMIMPS:619758 Tessadori-Van-Haaften neurodevelopmental syndrome True False False OMIMPS:619980 Braddock-Carey Syndrome True False False OMIMPS:620184 Atelis syndrome True False False OMIM:102590 True False True +OMIM:102800 True False True OMIM:103470 True False True OMIM:134700 True False True OMIM:137560 True False True diff --git a/src/ontology/reports/omim_term_exclusions.txt b/src/ontology/reports/omim_term_exclusions.txt index 3a8cc317..0b238811 100644 --- a/src/ontology/reports/omim_term_exclusions.txt +++ b/src/ontology/reports/omim_term_exclusions.txt @@ -4374,6 +4374,11 @@ OMIM:301122 OMIM:301123 OMIM:301124 OMIM:301125 +OMIM:301126 +OMIM:301128 +OMIM:301129 +OMIM:301130 +OMIM:301131 OMIM:301300 OMIM:301410 OMIM:301700 @@ -19345,4 +19350,22 @@ OMIM:620963 OMIM:620965 OMIM:620966 OMIM:620967 +OMIM:620970 +OMIM:620972 +OMIM:620973 +OMIM:620974 +OMIM:620976 +OMIM:620979 +OMIM:620980 +OMIM:620981 +OMIM:620982 +OMIM:620986 +OMIM:620989 +OMIM:620992 +OMIM:620993 +OMIM:620994 +OMIM:620995 +OMIM:620997 +OMIM:620998 +OMIM:621000 OMIMPS:151623 diff --git a/src/ontology/reports/omim_unmapped_terms.tsv b/src/ontology/reports/omim_unmapped_terms.tsv index 91805950..01d3af7d 100644 --- a/src/ontology/reports/omim_unmapped_terms.tsv +++ b/src/ontology/reports/omim_unmapped_terms.tsv @@ -1,18 +1,38 @@ subject_id subject_label +OMIMPS:219080 ACTH-independent macronodular adrenal hyperplasia OMIMPS:236270 Homocystinuria-megaloblastic anemia OMIMPS:251000 Methylmalonic aciduria OMIMPS:616255 Short stature with nonspecific skeletal abnormalities +OMIM:620990 acth-independent macronodular adrenal hyperplasia 3 +OMIM:620969 anemia, congenital dyserythropoietic, type ivb +OMIM:301127 arthrogryposis multiplex congenita 7, X-linked +OMIM:620975 blood group, anton system OMIM:620943 brain malformation renal syndrome +OMIM:620984 bronchiectasis and nasal polyposis OMIM:620962 cholestasis, progressive familial intrahepatic, 13 OMIM:620964 congenital myopathy 25 OMIM:620950 encephalopathy, acute transient +OMIM:620999 fibromatosis, gingival, 6 OMIM:620958 foveal hypoplasia 3 OMIM:620952 homocystinuria-megaloblastic anemia, cbld type +OMIM:620977 immunodeficiency 127 +OMIM:620983 immunodeficiency 128 +OMIM:301134 intellectual developmental disorder, X-linked 114 +OMIM:620988 intellectual developmental disorder, autosomal dominant 75 +OMIM:620985 karayol-borroto-haghshenas neurodevelopmental syndrome OMIM:620937 kariminejad-reversade neurodevelopmental syndrome +OMIM:620978 leukodystrophy, hypomyelinating, 28 OMIM:620940 methylmalonic aciduria and homocystinuria, cbll type OMIM:620953 methylmalonic aciduria, cbld type OMIM:620968 microphthalmia/coloboma 13 OMIM:620960 multiple mitochondrial dysfunctions syndrome 10 OMIM:620939 myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities +OMIM:620971 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 +OMIM:620987 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities +OMIM:301132 orofaciodigital syndrome 21 +OMIM:620991 pancreatic agenesis 3 +OMIM:621002 premature ovarian failure 25 +OMIM:620996 retinitis pigmentosa 98 OMIM:620938 spastic paraplegia 93, autosomal recessive +OMIM:621001 spermatogenic failure 96 OMIM:620947 spinocerebellar ataxia 51 diff --git a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv index 17abfeb4..0e34ba34 100644 --- a/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added-obsolete.robot.tsv @@ -357,8 +357,8 @@ MONDO:0007034 Adams-Oliver syndrome MONDO:0800094 Orphanet:974 Orphanet:498454 o MONDO:0007034 Adams-Oliver syndrome MONDO:0957001 Orphanet:974 Orphanet:183481 obsolete hereditary mixed dermis disorder MONDO:0007034 Adams-Oliver syndrome MONDO:8000032 Orphanet:974 Orphanet:377789 obsolete malformation syndrome MONDO:0007037 Achondroplasia MONDO:0018232 Orphanet:15 Orphanet:364536 obsolete primary bone dysplasia with micromelia -MONDO:0007039 neurofibromatosis type 2 MONDO:0019589 Orphanet:637 Orphanet:90642 obsolete syndromic genetic hearing loss -MONDO:0007039 neurofibromatosis type 2 MONDO:0020225 Orphanet:637 Orphanet:98641 obsolete syndromic cataract +MONDO:0007039 NF2-related schwannomatosis MONDO:0019589 Orphanet:637 Orphanet:90642 obsolete syndromic genetic hearing loss +MONDO:0007039 NF2-related schwannomatosis MONDO:0020225 Orphanet:637 Orphanet:98641 obsolete syndromic cataract MONDO:0007041 Apert syndrome MONDO:0020234 Orphanet:87 Orphanet:98650 obsolete craniofacial anomaly with cataract MONDO:0007041 Apert syndrome MONDO:0020254 Orphanet:87 Orphanet:98684 obsolete craniostenosis associated with a strabismus MONDO:0007041 Apert syndrome MONDO:0024149 Orphanet:87 Orphanet:138055 obsolete Pierre Robin syndrome associated with bone disease @@ -12015,8 +12015,8 @@ MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:8000031 Orphanet:98795 Orphanet:557494 obsolete subtype of a disorder MONDO:0020304 isochromosomy Yp MONDO:8000032 Orphanet:98797 Orphanet:377789 obsolete malformation syndrome MONDO:0020305 isochromosomy Yq MONDO:8000032 Orphanet:98798 Orphanet:377789 obsolete malformation syndrome -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type MONDO:8000031 Orphanet:98815 Orphanet:557494 obsolete subtype of a disorder -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type MONDO:8000031 Orphanet:98816 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020307 self-limited epilepsy with autonomic seizures MONDO:8000031 Orphanet:98815 Orphanet:557494 obsolete subtype of a disorder +MONDO:0020308 childhood occipital visual epilepsy MONDO:8000031 Orphanet:98816 Orphanet:557494 obsolete subtype of a disorder MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease MONDO:0000001 Orphanet:98825 Orphanet:377788 disease MONDO:0020313 obsolete unclassified myelodysplastic/myeloproliferative disease MONDO:0020077 Orphanet:98825 Orphanet:98275 myelodysplastic/myeloproliferative disease MONDO:0020315 obsolete unclassified myelodysplastic syndrome MONDO:0000001 Orphanet:98827 Orphanet:377788 disease diff --git a/src/ontology/reports/ordo.subclass.added.robot.tsv b/src/ontology/reports/ordo.subclass.added.robot.tsv index caba5a25..8d9dbf10 100644 --- a/src/ontology/reports/ordo.subclass.added.robot.tsv +++ b/src/ontology/reports/ordo.subclass.added.robot.tsv @@ -47,7 +47,7 @@ MONDO:0006976 somatostatinoma MONDO:0015064 Orphanet:97283 Orphanet:100077 jejun MONDO:0006976 somatostatinoma MONDO:0023206 Orphanet:97283 Orphanet:506060 functional pancreatic neuroendocrine tumor MONDO:0007034 Adams-Oliver syndrome MONDO:0015159 Orphanet:974 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007034 Adams-Oliver syndrome MONDO:0019294 Orphanet:974 Orphanet:79380 mixed dermis disorder -MONDO:0007039 neurofibromatosis type 2 MONDO:0859008 Orphanet:637 Orphanet:634518 neurofibromatosis/schwannomatosis +MONDO:0007039 NF2-related schwannomatosis MONDO:0859008 Orphanet:637 Orphanet:634518 neurofibromatosis/schwannomatosis MONDO:0007041 Apert syndrome MONDO:0015159 Orphanet:87 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007073 Hypoglossia-hypodactyly syndrome MONDO:0015159 Orphanet:989 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO:0004907 Orphanet:1008 Orphanet:79364 alopecia @@ -74,7 +74,6 @@ MONDO:0007526 Ehlers-Danlos syndrome, spondylodysplastic type MONDO:0034021 Orph MONDO:0007534 Beckwith-Wiedemann syndrome MONDO:0015496 Orphanet:116 Orphanet:156207 macroglossia MONDO:0007539 encephalopathy, recurrent, of childhood MONDO:0100309 Orphanet:2672 Orphanet:183518 hereditary ataxia MONDO:0007552 pretibial dystrophic epidermolysis bullosa MONDO:0035349 Orphanet:79410 Orphanet:595356 localized dystrophic epidermolysis bullosa -MONDO:0007558 benign occipital epilepsy MONDO:0020072 Orphanet:25968 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0007590 hemifacial hypertrophy MONDO:0015496 Orphanet:141145 Orphanet:156207 macroglossia MONDO:0007606 fibrodysplasia ossificans progressiva MONDO:0015159 Orphanet:337 Orphanet:102283 multiple congenital anomalies/dysmorphic syndrome-intellectual disability MONDO:0007630 North Carolina macular dystrophy MONDO:0957048 Orphanet:75327 Orphanet:519302 isolated macular dystrophy @@ -796,6 +795,7 @@ MONDO:0016006 Cockayne syndrome MONDO:0015159 Orphanet:191 Orphanet:102283 multi MONDO:0016006 Cockayne syndrome MONDO:0024237 Orphanet:191 Orphanet:183500 inherited neurodegenerative disorder MONDO:0016018 diabetic embryopathy MONDO:0016330 Orphanet:1926 Orphanet:217598 non-familial hypertrophic cardiomyopathy MONDO:0016018 diabetic embryopathy MONDO:0019716 Orphanet:1926 Orphanet:93460 overgrowth syndrome +MONDO:0016022 early myoclonic encephalopathy MONDO:0016801 Orphanet:1935 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0016022 early myoclonic encephalopathy MONDO:0020070 Orphanet:1935 Orphanet:98257 neonatal epilepsy syndrome MONDO:0016056 isolated congenital microcephaly MONDO:0957008 Orphanet:199642 Orphanet:269553 hereditary cerebral malformation MONDO:0016063 Cowden disease MONDO:0015185 Orphanet:201 Orphanet:104010 intestinal polyposis syndrome diff --git a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv index 50aabdc2..32f30889 100644 --- a/src/ontology/reports/ordo.subclass.confirmed.robot.tsv +++ b/src/ontology/reports/ordo.subclass.confirmed.robot.tsv @@ -280,6 +280,7 @@ MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 Orphanet:652 Orp MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0021227 Orphanet:652 Orphanet:100091 adrenal gland neoplasm MONDO:0007548 transient bullous dermolysis of the newborn MONDO:0006543 Orphanet:79411 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO:0006543 Orphanet:231568 Orphanet:303 epidermolysis bullosa dystrophica +MONDO:0007558 self-limited childhood occipital epilepsy MONDO:0020072 Orphanet:25968 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0007560 reading seizures MONDO:0017768 Orphanet:166433 Orphanet:310 reflex epilepsy MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 Orphanet:93308 Orphanet:251 multiple epiphyseal dysplasia MONDO:0007565 familial cylindromatosis MONDO:0011512 Orphanet:211 Orphanet:79493 Brooke-Spiegler syndrome @@ -2339,7 +2340,7 @@ MONDO:0015339 adrenomyeloneuropathy MONDO:0018544 Orphanet:139399 Orphanet:43 ad MONDO:0015340 drug rash with eosinophilia and systemic symptoms MONDO:0017396 Orphanet:139402 Orphanet:293815 toxic dermatosis MONDO:0015344 idiopathic acute transverse myelitis MONDO:0015342 Orphanet:139423 Orphanet:139417 acute transverse myelitis MONDO:0015345 perioral myoclonia with absences MONDO:0020072 Orphanet:139426 Orphanet:98259 childhood-onset epilepsy syndrome -MONDO:0015346 Jeavons syndrome MONDO:0020072 Orphanet:139431 Orphanet:98259 childhood-onset epilepsy syndrome +MONDO:0015346 epilepsy with eyelid myoclonia MONDO:0020072 Orphanet:139431 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0015347 multicentric reticulohistiocytosis MONDO:0015531 Orphanet:139436 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts MONDO:0019046 Orphanet:139444 Orphanet:68356 leukodystrophy MONDO:0015349 progressive cavitating leukoencephalopathy MONDO:0019046 Orphanet:139447 Orphanet:68356 leukodystrophy @@ -2588,7 +2589,6 @@ MONDO:0016014 fetal minoxidil syndrome MONDO:0016677 Orphanet:1918 Orphanet:2515 MONDO:0016016 toluene embryopathy MONDO:0016677 Orphanet:1920 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016017 methimazole embryofetopathy MONDO:0016677 Orphanet:1923 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016020 frontal encephalocele MONDO:0016057 Orphanet:1931 Orphanet:199647 isolated encephalocele -MONDO:0016022 early myoclonic encephalopathy MONDO:0016801 Orphanet:1935 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0016025 myoclonic-astatic epilepsy MONDO:0020072 Orphanet:1942 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0016026 infant epilepsy with migrant focal crisis MONDO:0020071 Orphanet:1943 Orphanet:98258 infantile epilepsy syndrome MONDO:0016027 benign neonatal seizures MONDO:0020070 Orphanet:1949 Orphanet:98257 neonatal epilepsy syndrome @@ -4254,8 +4254,8 @@ MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion MONDO:0016913 MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:0007113 Orphanet:98795 Orphanet:72 Angelman syndrome MONDO:0020304 isochromosomy Yp MONDO:0019935 Orphanet:98797 Orphanet:96325 isochromosome Y MONDO:0020305 isochromosomy Yq MONDO:0019935 Orphanet:98798 Orphanet:96325 isochromosome Y -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type MONDO:0007558 Orphanet:98815 Orphanet:25968 benign occipital epilepsy -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type MONDO:0007558 Orphanet:98816 Orphanet:25968 benign occipital epilepsy +MONDO:0020307 self-limited epilepsy with autonomic seizures MONDO:0007558 Orphanet:98815 Orphanet:25968 self-limited childhood occipital epilepsy +MONDO:0020308 childhood occipital visual epilepsy MONDO:0007558 Orphanet:98816 Orphanet:25968 self-limited childhood occipital epilepsy MONDO:0020310 familial focal epilepsy with variable foci MONDO:0017704 Orphanet:98820 Orphanet:309 familial partial epilepsy MONDO:0020311 chronic myelomonocytic leukemia MONDO:0020077 Orphanet:98823 Orphanet:98275 myelodysplastic/myeloproliferative disease MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0015667 Orphanet:98834 Orphanet:167714 acute myeloid leukemia by FAB classification diff --git a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv index 44afa5f3..c8eac73d 100644 --- a/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv +++ b/src/ontology/reports/ordo_mapped_deprecated_terms.robot.template.tsv @@ -17,6 +17,7 @@ MONDO:0015218 Orphanet:108987 MONDO:equivalentObsolete MONDO:0015255 Orphanet:1256 MONDO:equivalentObsolete MONDO:0015297 Orphanet:137653 MONDO:equivalentObsolete MONDO:0015343 Orphanet:139420 MONDO:equivalentObsolete +MONDO:0015424 Orphanet:1420 MONDO:equivalentObsolete MONDO:0015551 Orphanet:158665 MONDO:equivalentObsolete MONDO:0015560 Orphanet:158796 MONDO:equivalentObsolete MONDO:0015591 Orphanet:163903 MONDO:equivalentObsolete diff --git a/src/ontology/reports/ordo_mapping_status.tsv b/src/ontology/reports/ordo_mapping_status.tsv index 21c76999..acd06d1c 100644 --- a/src/ontology/reports/ordo_mapping_status.tsv +++ b/src/ontology/reports/ordo_mapping_status.tsv @@ -4812,7 +4812,6 @@ Orphanet:141136 Otomandibular syndrome False True True Orphanet:141327 OBSOLETE: Orofaciodigital syndrome type 12 False True True Orphanet:141330 OBSOLETE: Orofaciodigital syndrome type 13 False True True Orphanet:1417 OBSOLETE: Platyspondylic lethal chondrodysplasia False True True -Orphanet:1420 OBSOLETE: Lethal chondrodysplasia, Moerman type False True True Orphanet:1421 OBSOLETE: Lethal chondrodysplasia, Seller type False True True Orphanet:1428 OBSOLETE: Familial chondromalacia patellae False True True Orphanet:1432 Autosomal dominant chorioretinopathy-microcephaly syndrome False True True @@ -15404,6 +15403,7 @@ Orphanet:1256 OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome True Tru Orphanet:1317 CAMFAK syndrome True True True Orphanet:137653 Microcephaly-digital anomalies-intellectual disability syndrome True True True Orphanet:139420 OBSOLETE: Secondary acute transverse myelitis True True True +Orphanet:1420 OBSOLETE: Lethal chondrodysplasia, Moerman type True True True Orphanet:1526 OBSOLETE: Craniosynostosis-synostoses-hypertensive nephropathy syndrome True True True Orphanet:158665 OBSOLETE: Basal epidermolysis bullosa simplex True True True Orphanet:158796 OBSOLETE: Classic mast cell leukemia True True True diff --git a/src/ontology/reports/sync-subClassOf.confirmed.tsv b/src/ontology/reports/sync-subClassOf.confirmed.tsv index 6eee1bab..16b49310 100644 --- a/src/ontology/reports/sync-subClassOf.confirmed.tsv +++ b/src/ontology/reports/sync-subClassOf.confirmed.tsv @@ -1073,7 +1073,6 @@ MONDO:0001854 lacrimal apparatus disorder MONDO:0005328 DOID:1400 DOID:5614 eye MONDO:0001855 rubeosis iridis MONDO:0005283 DOID:14000 DOID:5679 retinal disorder MONDO:0001856 splenic artery aneurysm MONDO:0000473 DOID:14006 DOID:0050828 arterial disorder MONDO:0001857 Brucella canis brucellosis MONDO:0005683 DOID:14019 DOID:11077 brucellosis -MONDO:0001858 Tietze syndrome MONDO:0002254 DOID:14021 DOID:225 syndromic disease MONDO:0001859 algoneurodystrophy MONDO:0019369 DOID:14022 DOID:3223 complex regional pain syndrome MONDO:0001860 folic acid deficiency anemia MONDO:0006873 DOID:14026 DOID:5113 nutritional deficiency disease MONDO:0001861 malignant parietal pleura tumor MONDO:0006294 DOID:14032 DOID:5158 pleural cancer @@ -3505,7 +3504,6 @@ MONDO:0005574 tauopathy MONDO:0005559 DOID:680 DOID:1289 neurodegenerative disea MONDO:0005575 colorectal cancer MONDO:0005814 DOID:5672 DOID:10155 intestinal cancer MONDO:0005576 cryoglobulinemia MONDO:0002459 DOID:2917 DOID:2916 type IV hypersensitivity disease MONDO:0005578 arthritic joint disease MONDO:0002614 DOID:848 DOID:3342 bone inflammation disease -MONDO:0005579 epilepsy, idiopathic generalized MONDO:0005027 DOID:1827 DOID:1826 epilepsy MONDO:0005580 esophageal squamous cell carcinoma MONDO:0005096 DOID:3748 DOID:1749 squamous cell carcinoma MONDO:0005580 esophageal squamous cell carcinoma MONDO:0019086 DOID:3748 DOID:1107 carcinoma of esophagus MONDO:0005595 laryngeal squamous cell carcinoma MONDO:0002358 DOID:2876 DOID:2600 laryngeal carcinoma @@ -5188,7 +5186,6 @@ MONDO:0010747 X-linked dystonia-parkinsonism MONDO:0000477 DOID:0090057 DOID:005 MONDO:0010752 VACTERL association, X-linked, with or without hydrocephalus MONDO:0008642 DOID:0111766 DOID:14679 VACTERL/vater association MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0000428 DOID:0110418 DOID:0050738 Y-linked disease MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0019200 DOID:0110418 DOID:10584 retinitis pigmentosa -MONDO:0010763 spermatogenic failure, Y-linked, 1 MONDO:0010595 DOID:0070186 DOID:0050457 Sertoli cell-only syndrome MONDO:0010764 hearing loss, Y-linked 1 MONDO:0033304 DOID:0111759 DOID:0111757 nonsyndromic deafness, Y-linked MONDO:0010765 46,XY complete gonadal dysgenesis MONDO:0001967 DOID:14448 DOID:14447 gonadal dysgenesis MONDO:0010767 spermatogenic failure, Y-linked, 2 MONDO:0004983 DOID:0070187 DOID:0111910 spermatogenic failure @@ -7247,6 +7244,9 @@ MONDO:0020563 dedifferentiated liposarcoma MONDO:0005060 DOID:0080531 DOID:3382 MONDO:0020572 complex regional pain syndrome type 2 MONDO:0019369 DOID:3222 DOID:3223 complex regional pain syndrome MONDO:0020604 X-linked dominant disease MONDO:0000425 DOID:0080009 DOID:0050735 X-linked disease MONDO:0020605 X-linked recessive disease MONDO:0000425 DOID:0080012 DOID:0050735 X-linked disease +MONDO:0020630 developmental and epileptic encephalopathy 91 MONDO:0100062 DOID:0080472 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0020631 developmental and epileptic encephalopathy 92 MONDO:0100062 DOID:0080471 DOID:0112202 developmental and epileptic encephalopathy +MONDO:0020632 developmental and epileptic encephalopathy 93 MONDO:0100062 DOID:0112275 DOID:0112202 developmental and epileptic encephalopathy MONDO:0020655 juvenile ankylosing spondylitis MONDO:0005306 DOID:0040092 DOID:7147 ankylosing spondylitis MONDO:0020658 infiltrating ureter transitional cell carcinoma MONDO:0004030 DOID:6845 DOID:6888 ureter transitional cell carcinoma MONDO:0020667 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis MONDO:0008803 DOID:0081290 DOID:0081289 Antley-Bixler syndrome @@ -7830,7 +7830,6 @@ MONDO:0054850 ovarian dysgenesis 6 MONDO:0009299 DOID:0080498 DOID:14450 46 XX g MONDO:0054852 peeling skin syndrome 6 MONDO:0019347 DOID:0070525 DOID:0060283 peeling skin syndrome MONDO:0054860 hearing loss, autosomal recessive 110 MONDO:0019588 DOID:0111644 DOID:0050565 hearing loss, autosomal recessive MONDO:0054861 intellectual disability, autosomal recessive 63 MONDO:0019502 DOID:0081224 DOID:0060308 autosomal recessive non-syndromic intellectual disability -MONDO:0056795 X-linked spermatogenic failure 1 MONDO:0010595 DOID:0070189 DOID:0050457 Sertoli cell-only syndrome MONDO:0056796 obstructive nephropathy MONDO:0005240 DOID:0070314 DOID:557 kidney disorder MONDO:0056804 benign neoplasm of peripheral nervous system MONDO:0000628 DOID:0080320 DOID:0060090 central nervous system organ benign neoplasm MONDO:0056806 non-small cell squamous lung carcinoma MONDO:0005233 DOID:0080521 DOID:3908 non-small cell lung carcinoma @@ -13766,7 +13765,6 @@ MONDO:0010316 FG syndrome 3 MONDO:0002010 OMIM:300406 OMIMPS:305450 FG syndrome MONDO:0010317 intellectual disability, X-linked, with or without seizures, arx-related MONDO:0019181 OMIM:300419 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010318 FG syndrome 4 MONDO:0002010 OMIM:300422 OMIMPS:305450 FG syndrome MONDO:0010320 retinitis pigmentosa 23 MONDO:0019200 OMIM:300424 OMIMPS:268000 retinitis pigmentosa -MONDO:0010321 autism, susceptibility to, X-linked 1 MONDO:0020836 OMIM:300425 OMIMPS:209850 autism, susceptiblity to MONDO:0010322 intellectual disability, X-linked 2 MONDO:0019181 OMIM:300428 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010324 intellectual disability, X-linked 81 MONDO:0019181 OMIM:300433 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010325 X-linked intellectual disability, Stocco dos Santos type MONDO:0020119 OMIM:300434 OMIMPS:309510 X-linked syndromic intellectual disability @@ -13776,8 +13774,6 @@ MONDO:0010333 corpus callosum agenesis-intellectual disability-coloboma-microgna MONDO:0010336 orofaciodigital syndrome VIII MONDO:0015375 OMIM:300484 OMIMPS:311200 orofaciodigital syndrome MONDO:0010337 X-linked intellectual disability-cerebellar hypoplasia syndrome MONDO:0020119 OMIM:300486 OMIMPS:309510 X-linked syndromic intellectual disability MONDO:0010339 epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0859390 OMIM:300491 OMIMPS:300491 epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features -MONDO:0010341 autism, susceptibility to, X-linked 2 MONDO:0020836 OMIM:300495 OMIMPS:209850 autism, susceptiblity to -MONDO:0010342 autism, susceptibility to, X-linked 3 MONDO:0020836 OMIM:300496 OMIMPS:209850 autism, susceptiblity to MONDO:0010344 intellectual disability, X-linked 45 MONDO:0019181 OMIM:300498 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010347 intellectual disability, X-linked 84 MONDO:0019181 OMIM:300505 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010349 ovarian dysgenesis 2 MONDO:0009299 OMIM:300510 OMIMPS:233300 46 XX gonadal dysgenesis @@ -13820,10 +13816,8 @@ MONDO:0010432 thrombophilia, X-linked, due to factor 9 defect MONDO:0100240 OMIM MONDO:0010435 nystagmus 6, congenital, X-linked MONDO:0005712 OMIM:300814 OMIMPS:310700 congenital nystagmus MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO:0000732 OMIM:300816 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0010438 paroxysmal nocturnal hemoglobinuria 1 MONDO:0100244 OMIM:300818 OMIMPS:300818 paroxysmal nocturnal hemoglobinuria -MONDO:0010440 autism, susceptibility to, X-linked 4 MONDO:0020836 OMIM:300830 OMIMPS:209850 autism, susceptiblity to MONDO:0010447 intellectual disability, X-linked 19 MONDO:0019181 OMIM:300844 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010448 moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome MONDO:0016820 OMIM:300845 OMIMPS:252350 Moyamoya disease -MONDO:0010449 autism, susceptibility to, X-linked 5 MONDO:0020836 OMIM:300847 OMIMPS:209850 autism, susceptiblity to MONDO:0010450 intellectual disability, X-linked 89 MONDO:0019181 OMIM:300848 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010451 intellectual disability, X-linked 41 MONDO:0019181 OMIM:300849 OMIMPS:309530 non-syndromic X-linked intellectual disability MONDO:0010452 intellectual disability, X-linked 90 MONDO:0019181 OMIM:300850 OMIMPS:309530 non-syndromic X-linked intellectual disability @@ -13838,7 +13832,6 @@ MONDO:0010465 Kabuki syndrome 2 MONDO:0016512 OMIM:300867 OMIMPS:147920 Kabuki s MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0100062 OMIM:300868 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0010466 multiple congenital anomalies-hypotonia-seizures syndrome 2 MONDO:0100247 OMIM:300868 OMIMPS:614080 multiple congenital anomalies-hypotonia-seizures syndrome MONDO:0010468 aneurysm, intracranial berry, 5 MONDO:0016483 OMIM:300870 OMIMPS:105800 intracranial berry aneurysm -MONDO:0010469 epsilon-trimethyllysine hydroxylase deficiency MONDO:0020836 OMIM:300872 OMIMPS:209850 autism, susceptiblity to MONDO:0010471 Cornelia de Lange syndrome 5 MONDO:0016033 OMIM:300882 OMIMPS:122470 Cornelia de Lange syndrome MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0005500 OMIM:300884 OMIMPS:212065 congenital disorder of glycosylation type I MONDO:0010472 developmental and epileptic encephalopathy, 36 MONDO:0100062 OMIM:300884 OMIMPS:308350 developmental and epileptic encephalopathy @@ -13912,6 +13905,7 @@ MONDO:0010741 tooth agenesis, selective, X-linked, 1 MONDO:0005486 OMIM:313500 O MONDO:0010743 thrombocytopenia 1 MONDO:0100241 OMIM:313900 OMIMPS:313900 inherited thrombocytopenia MONDO:0010758 Wieacker-Wolff syndrome MONDO:0025445 OMIM:314580 OMIMPS:314580 Wieacker-Wolff syndrome (spectrum) MONDO:0010761 retinitis pigmentosa Y-linked MONDO:0019200 OMIM:400004 OMIMPS:268000 retinitis pigmentosa +MONDO:0010763 spermatogenic failure, Y-linked, 1 MONDO:0004983 OMIM:400042 OMIMPS:258150 spermatogenic failure MONDO:0010764 hearing loss, Y-linked 1 MONDO:0033304 OMIM:400043 OMIMPS:400043 nonsyndromic deafness, Y-linked MONDO:0010767 spermatogenic failure, Y-linked, 2 MONDO:0004983 OMIM:415000 OMIMPS:258150 spermatogenic failure MONDO:0010806 retinitis pigmentosa 13 MONDO:0019200 OMIM:600059 OMIMPS:268000 retinitis pigmentosa @@ -14140,7 +14134,6 @@ MONDO:0011608 dermatitis, atopic, 5 MONDO:0100178 OMIM:605844 OMIMPS:603165 derm MONDO:0011609 dermatitis, atopic, 6 MONDO:0100178 OMIM:605845 OMIMPS:603165 dermatitis, atopic, susceptibility to MONDO:0011616 holoprosencephaly 6 MONDO:0016296 OMIM:605934 OMIMPS:236100 holoprosencephaly MONDO:0011625 autosomal dominant nonsyndromic hearing loss 18 MONDO:0019587 OMIM:606012 OMIMPS:124900 autosomal dominant nonsyndromic hearing loss -MONDO:0011627 autism, susceptibility to, 5 MONDO:0020836 OMIM:606053 OMIMPS:209850 autism, susceptiblity to MONDO:0011629 MOGS-congenital disorder of glycosylation MONDO:0005501 OMIM:606056 OMIMPS:212066 congenital disorder of glycosylation type II MONDO:0011630 retinitis pigmentosa 28 MONDO:0019200 OMIM:606068 OMIMPS:268000 retinitis pigmentosa MONDO:0011631 hemochromatosis type 4 MONDO:0006507 OMIM:606069 OMIMPS:235200 hereditary hemochromatosis @@ -14200,7 +14193,6 @@ MONDO:0011803 hereditary spastic paraplegia 7 MONDO:0019064 OMIM:607259 OMIMPS:3 MONDO:0011814 Smith-McCort dysplasia 1 MONDO:0015799 OMIM:607326 OMIMPS:607326 Smith-McCort dysplasia MONDO:0011821 Meckel syndrome, type 3 MONDO:0018921 OMIM:607361 OMIMPS:249000 Meckel syndrome MONDO:0011822 Bartter disease type 3 MONDO:0015231 OMIM:607364 OMIMPS:601678 Bartter syndrome -MONDO:0011824 autism, susceptibility to, 8 MONDO:0020836 OMIM:607373 OMIMPS:209850 autism, susceptiblity to MONDO:0011826 glucocorticoid deficiency 2 MONDO:0008733 OMIM:607398 OMIMPS:202200 familial glucocorticoid deficiency MONDO:0011828 intellectual disability, autosomal recessive 2 MONDO:0019502 OMIM:607417 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0011829 coenzyme Q10 deficiency, primary, 1 MONDO:0018151 OMIM:607426 OMIMPS:607426 coenzyme Q10 deficiency @@ -14246,7 +14238,6 @@ MONDO:0011951 amyotrophic lateral sclerosis type 6 MONDO:0005144 OMIM:608030 OMI MONDO:0011952 amyotrophic lateral sclerosis type 7 MONDO:0005144 OMIM:608031 OMIMPS:105400 familial amyotrophic lateral sclerosis MONDO:0011953 familial acute necrotizing encephalopathy MONDO:0000166 OMIM:608033 OMIMPS:610551 encephalopathy, acute, infection-induced MONDO:0011954 melanoma, cutaneous malignant, susceptibility to, 4 MONDO:0024462 OMIM:608035 OMIMPS:155600 susceptibility to familial cutaneous melanoma -MONDO:0011956 autism, susceptibility to, 3 MONDO:0020836 OMIM:608049 OMIMPS:209850 autism, susceptiblity to MONDO:0011957 retinal macular dystrophy type 2 MONDO:0031166 OMIM:608051 OMIMPS:136550 macular dystrophy, retinal MONDO:0011963 Joubert syndrome 2 MONDO:0018772 OMIM:608091 OMIMPS:213300 Joubert syndrome MONDO:0011964 DPAGT1-congenital disorder of glycosylation MONDO:0005500 OMIM:608093 OMIMPS:212065 congenital disorder of glycosylation type I @@ -14366,7 +14357,6 @@ MONDO:0012248 autosomal recessive limb-girdle muscular dystrophy type 2K MONDO:0 MONDO:0012249 Lynch syndrome 2 MONDO:0018630 OMIM:609310 OMIMPS:120435 hereditary nonpolyposis colon cancer MONDO:0012252 rhabdoid tumor predisposition syndrome 1 MONDO:0016473 OMIM:609322 OMIMPS:609322 familial rhabdoid tumor MONDO:0012258 epidermolysis bullosa simplex 2E, with migratory circinate erythema MONDO:0017610 OMIM:609352 OMIMPS:131760 epidermolysis bullosa simplex -MONDO:0012261 autism, susceptibility to, 6 MONDO:0020836 OMIM:609378 OMIMPS:209850 autism, susceptiblity to MONDO:0012262 fibrosis of extraocular muscles, congenital, 3c MONDO:0007614 OMIM:609384 OMIMPS:135700 congenital fibrosis of extraocular muscles MONDO:0012264 preeclampsia/eclampsia 2 MONDO:0005081 OMIM:609402 OMIMPS:189800 preeclampsia MONDO:0012265 preeclampsia/eclampsia 3 MONDO:0005081 OMIM:609403 OMIMPS:189800 preeclampsia @@ -14489,7 +14479,6 @@ MONDO:0012525 Leber congenital amaurosis 12 MONDO:0018998 OMIM:610612 OMIMPS:204 MONDO:0012526 hereditary angioedema type 3 MONDO:0019623 OMIM:610618 OMIMPS:106100 hereditary angioedema MONDO:0012529 Diamond-Blackfan anemia 3 MONDO:0015253 OMIM:610629 OMIMPS:105650 Diamond-Blackfan anemia MONDO:0012532 hereditary hemorrhagic telangiectasia type 4 MONDO:0019180 OMIM:610655 OMIMPS:187300 hereditary hemorrhagic telangiectasia -MONDO:0012533 autism, susceptibility to, 7 MONDO:0020836 OMIM:610676 OMIMPS:209850 autism, susceptiblity to MONDO:0012534 combined oxidative phosphorylation defect type 4 MONDO:0000732 OMIM:610678 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0012539 Joubert syndrome 6 MONDO:0018772 OMIM:610688 OMIMPS:213300 Joubert syndrome MONDO:0012540 age related macular degeneration 4 MONDO:0005150 OMIM:610698 OMIMPS:603075 age-related macular degeneration @@ -14504,20 +14493,15 @@ MONDO:0012556 DK1-congenital disorder of glycosylation MONDO:0005500 OMIM:610768 MONDO:0012561 congenital anomalies of kidney and urinary tract 1 MONDO:0019719 OMIM:610805 OMIMPS:610805 congenital anomaly of kidney and urinary tract MONDO:0012562 holoprosencephaly 7 MONDO:0016296 OMIM:610828 OMIMPS:236100 holoprosencephaly MONDO:0012565 Fanconi anemia complementation group N MONDO:0019391 OMIM:610832 OMIMPS:227650 Fanconi anemia -MONDO:0012566 autism, susceptibility to, 11 MONDO:0020836 OMIM:610836 OMIMPS:209850 autism, susceptiblity to -MONDO:0012567 autism, susceptibility to, 12 MONDO:0020836 OMIM:610838 OMIMPS:209850 autism, susceptiblity to MONDO:0012569 mitral valve prolapse, myxomatous 3 MONDO:0008004 OMIM:610840 OMIMPS:157700 familial mitral valve prolapse MONDO:0012571 primary ciliary dyskinesia 6 MONDO:0016575 OMIM:610852 OMIMPS:244400 primary ciliary dyskinesia MONDO:0012573 vesicoureteral reflux 2 MONDO:0017329 OMIM:610878 OMIMPS:193000 familial vesicoureteral reflux MONDO:0012575 branchiootorenal syndrome 2 MONDO:0007029 OMIM:610896 OMIMPS:113650 branchio-oto-renal syndrome MONDO:0012576 supranuclear palsy, progressive, 3 MONDO:0019037 OMIM:610898 OMIMPS:601104 progressive supranuclear palsy -MONDO:0012578 autism, susceptibility to, 13 MONDO:0020836 OMIM:610908 OMIMPS:209850 autism, susceptiblity to MONDO:0012582 interstitial lung disease due to ABCA3 deficiency MONDO:0012580 OMIM:610921 OMIMPS:265120 hereditary pulmonary alveolar proteinosis MONDO:0012583 tooth agenesis, selective, 5 MONDO:0005486 OMIM:610926 OMIMPS:106600 tooth agenesis MONDO:0012588 neuronal ceroid lipofuscinosis 7 MONDO:0016295 OMIM:610951 OMIMPS:256730 neuronal ceroid lipofuscinosis MONDO:0012598 fibromatosis, gingival, 4 MONDO:0016070 OMIM:611010 OMIMPS:135300 hereditary gingival fibromatosis -MONDO:0012600 autism, susceptibility to, 9 MONDO:0020836 OMIM:611015 OMIMPS:209850 autism, susceptiblity to -MONDO:0012601 autism, susceptibility to, 10 MONDO:0020836 OMIM:611016 OMIMPS:209850 autism, susceptiblity to MONDO:0012602 autosomal recessive nonsyndromic hearing loss 24 MONDO:0019588 OMIM:611022 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0012603 episodic kinesigenic dyskinesia 2 MONDO:0044202 OMIM:611031 OMIMPS:128200 episodic kinesigenic dyskinesia MONDO:0012604 isolated microphthalmia 3 MONDO:0000062 OMIM:611038 OMIMPS:251600 isolated microphthalmia @@ -14614,7 +14598,6 @@ MONDO:0012793 hypouricemia, renal, 2 MONDO:0968951 OMIM:612076 OMIMPS:220150 hyp MONDO:0012796 retinitis pigmentosa 41 MONDO:0019200 OMIM:612095 OMIMPS:268000 retinitis pigmentosa MONDO:0012797 otosclerosis 8 MONDO:0005349 OMIM:612096 OMIMPS:166800 otosclerosis MONDO:0012799 hypertrophic cardiomyopathy 11 MONDO:0024573 OMIM:612098 OMIMPS:192600 familial hypertrophic cardiomyopathy -MONDO:0012801 autism, susceptibility to, 15 MONDO:0020836 OMIM:612100 OMIMPS:209850 autism, susceptiblity to MONDO:0012804 hypertrophic cardiomyopathy 12 MONDO:0024573 OMIM:612124 OMIMPS:192600 familial hypertrophic cardiomyopathy MONDO:0012805 childhood onset GLUT1 deficiency syndrome 2 MONDO:0000188 OMIM:612126 OMIMPS:606777 GLUT1 deficiency syndrome MONDO:0012806 ectodermal dysplasia and immunodeficiency 2 MONDO:0010293 OMIM:612132 OMIMPS:300291 ectodermal dysplasia and immune deficiency @@ -14820,12 +14803,10 @@ MONDO:0013250 autosomal recessive nonsyndromic hearing loss 85 MONDO:0019588 OMI MONDO:0013253 breast-ovarian cancer, familial, susceptibility to, 3 MONDO:0100526 OMIM:613399 OMIMPS:604370 breast-ovarian cancer, familial, susceptibility to MONDO:0013254 microcephaly, seizures, and developmental delay MONDO:0100062 OMIM:613402 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0013255 arthrogryposis, renal dysfunction, and cholestasis 2 MONDO:0017123 OMIM:613404 OMIMPS:208085 arthrogryposis-renal dysfunction-cholestasis syndrome -MONDO:0013258 autism, susceptibility to, 16 MONDO:0020836 OMIM:613410 OMIMPS:209850 autism, susceptiblity to MONDO:0013261 dilated cardiomyopathy 1R MONDO:0018901 OMIM:613424 OMIMPS:604169 left ventricular noncompaction MONDO:0013262 dilated cardiomyopathy 1S MONDO:0018901 OMIM:613426 OMIMPS:604169 left ventricular noncompaction MONDO:0013263 retinitis pigmentosa 54 MONDO:0019200 OMIM:613428 OMIMPS:268000 retinitis pigmentosa MONDO:0013264 amyotrophic lateral sclerosis type 12 MONDO:0005144 OMIM:613435 OMIMPS:105400 familial amyotrophic lateral sclerosis -MONDO:0013265 autism, susceptibility to, 17 MONDO:0020836 OMIM:613436 OMIMPS:209850 autism, susceptiblity to MONDO:0013268 frontonasal dysplasia with alopecia and genital anomaly MONDO:0016643 OMIM:613451 OMIMPS:136760 frontonasal dysplasia MONDO:0013269 autosomal recessive nonsyndromic hearing loss 91 MONDO:0019588 OMIM:613453 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0013271 frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome MONDO:0016643 OMIM:613456 OMIMPS:136760 frontonasal dysplasia @@ -15222,7 +15203,6 @@ MONDO:0014006 Schuurs-Hoeijmakers syndrome MONDO:0100172 OMIM:615009 OMIMPS:1562 MONDO:0014007 Aicardi-Goutieres syndrome 6 MONDO:0018866 OMIM:615010 OMIMPS:225750 Aicardi-Goutieres syndrome MONDO:0014014 epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive MONDO:0017610 OMIM:615028 OMIMPS:131760 epidermolysis bullosa simplex MONDO:0014015 hereditary spastic paraplegia 56 MONDO:0019064 OMIM:615030 OMIMPS:303350 hereditary spastic paraplegia -MONDO:0014017 intellectual developmental disorder with autism and macrocephaly MONDO:0020836 OMIM:615032 OMIMPS:209850 autism, susceptiblity to MONDO:0014021 familial episodic pain syndrome with predominantly upper body involvement MONDO:0018319 OMIM:615040 OMIMPS:615040 familial episodic pain syndrome MONDO:0014022 muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 MONDO:0000171 OMIM:615041 OMIMPS:236670 muscular dystrophy-dystroglycanopathy, type A MONDO:0014023 congenital muscular dystrophy with intellectual disability and severe epilepsy MONDO:0005500 OMIM:615042 OMIMPS:212065 congenital disorder of glycosylation type I @@ -15234,7 +15214,6 @@ MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing MONDO:0014037 spermatogenic failure 11 MONDO:0004983 OMIM:615081 OMIMPS:258150 spermatogenic failure MONDO:0014039 mitochondrial DNA depletion syndrome 11 MONDO:0018158 OMIM:615084 OMIMPS:603041 mitochondrial DNA depletion syndrome MONDO:0014040 autosomal recessive osteopetrosis 8 MONDO:0019026 OMIM:615085 OMIMPS:259700 autosomal recessive osteopetrosis -MONDO:0014041 autism, susceptibility to, 19 MONDO:0020836 OMIM:615091 OMIMPS:209850 autism, susceptiblity to MONDO:0014042 left ventricular noncompaction 7 MONDO:0018901 OMIM:615092 OMIMPS:604169 left ventricular noncompaction MONDO:0014043 microcephalic primordial dwarfism due to ZNF335 deficiency MONDO:0016660 OMIM:615095 OMIMPS:251200 autosomal recessive primary microcephaly MONDO:0014046 Cowden syndrome 4 MONDO:0016063 OMIM:615107 OMIMPS:158350 Cowden disease @@ -15774,6 +15753,9 @@ MONDO:0019149 cholesteryl ester storage disease MONDO:0800449 OMIM:278000 OMIMPS MONDO:0020507 leukoencephalopathy with vanishing white matter 1 MONDO:0800448 OMIM:603896 OMIMPS:603896 leukoencephalopathy with vanishing white matter MONDO:0020607 Liddle syndrome 1 MONDO:0008323 OMIM:177200 OMIMPS:177200 Liddle syndrome MONDO:0020628 microcephaly, growth restriction, and increased sister chromatid exchange 2 MONDO:0020629 OMIM:618097 OMIMPS:210900 microcephaly, growth restriction and increased sister chromatid exchange +MONDO:0020630 developmental and epileptic encephalopathy 91 MONDO:0100062 OMIM:617711 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0020631 developmental and epileptic encephalopathy 92 MONDO:0100062 OMIM:617829 OMIMPS:308350 developmental and epileptic encephalopathy +MONDO:0020632 developmental and epileptic encephalopathy 93 MONDO:0100062 OMIM:618012 OMIMPS:308350 developmental and epileptic encephalopathy MONDO:0020712 46,XY sex reversal 1 MONDO:0010765 OMIM:400044 OMIMPS:400044 46,XY complete gonadal dysgenesis MONDO:0020713 pulmonary venoocclusive disease 1 MONDO:0009937 OMIM:265450 OMIMPS:265450 pulmonary venoocclusive disease MONDO:0020716 thyroid dyshormonogenesis 1 MONDO:0010132 OMIM:274400 OMIMPS:274400 familial thyroid dyshormonogenesis @@ -15950,7 +15932,6 @@ MONDO:0029145 orofacial cleft 8 MONDO:0000358 OMIM:618149 OMIMPS:119530 orofacia MONDO:0029147 spermatogenic failure 33 MONDO:0004983 OMIM:618152 OMIMPS:258150 spermatogenic failure MONDO:0029148 spermatogenic failure 34 MONDO:0004983 OMIM:618153 OMIMPS:258150 spermatogenic failure MONDO:0029465 intellectual developmental disorder, autosomal dominant 69 MONDO:0100172 OMIM:617863 OMIMPS:156200 intellectual disability, autosomal dominant -MONDO:0030004 autism, susceptibility to, 20 MONDO:0020836 OMIM:618830 OMIMPS:209850 autism, susceptiblity to MONDO:0030005 epilepsy, early-onset, with or without developmental delay MONDO:0957599 OMIM:618832 OMIMPS:617290 epilepsy, early-onset MONDO:0030006 combined oxidative phosphorylation deficiency 40 MONDO:0000732 OMIM:618835 OMIMPS:609060 combined oxidative phosphorylation deficiency MONDO:0030007 combined oxidative phosphorylation deficiency 41 MONDO:0000732 OMIM:618838 OMIMPS:609060 combined oxidative phosphorylation deficiency @@ -16698,6 +16679,7 @@ MONDO:0054852 peeling skin syndrome 6 MONDO:0019347 OMIM:618084 OMIMPS:270300 pe MONDO:0054860 hearing loss, autosomal recessive 110 MONDO:0019588 OMIM:618094 OMIMPS:220290 hearing loss, autosomal recessive MONDO:0054861 intellectual disability, autosomal recessive 63 MONDO:0019502 OMIM:618095 OMIMPS:249500 autosomal recessive non-syndromic intellectual disability MONDO:0054862 premature ovarian failure 15 MONDO:0019852 OMIM:618096 OMIMPS:311360 inherited primary ovarian failure +MONDO:0056795 X-linked spermatogenic failure 1 MONDO:0004983 OMIM:305700 OMIMPS:258150 spermatogenic failure MONDO:0060486 arthrogryposis multiplex congenita 1, neurogenic, with myelin defect MONDO:0015168 OMIM:617468 OMIMPS:617468 arthrogryposis multiplex congenita MONDO:0060554 vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0020831 OMIM:617660 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome MONDO:0060555 vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0020831 OMIM:617661 OMIMPS:617660 congenital vertebral-cardiac-renal anomalies syndrome @@ -16895,6 +16877,7 @@ MONDO:0957301 spermatogenic failure 84 MONDO:0004983 OMIM:620409 OMIMPS:258150 s MONDO:0957303 palmoplantar keratoderma, epidermolytic, 2 MONDO:0968949 OMIM:620411 OMIMPS:144200 palmoplantar keratoderma, epidermolytic MONDO:0957308 spastic paraplegia 90A, autosomal dominant MONDO:0019064 OMIM:620416 OMIMPS:303350 hereditary spastic paraplegia MONDO:0957309 spastic paraplegia 90B, autosomal recessive MONDO:0019064 OMIM:620417 OMIMPS:303350 hereditary spastic paraplegia +MONDO:0957314 retinitis pigmentosa 97 MONDO:0019200 OMIM:620422 OMIMPS:268000 retinitis pigmentosa MONDO:0957382 multiple mitochondrial dysfunctions syndrome 7 MONDO:0017338 OMIM:620423 OMIMPS:605711 fatal multiple mitochondrial dysfunctions syndrome MONDO:0957385 dystonia 37, early-onset, with striatal lesions MONDO:0044807 OMIM:620427 OMIMPS:128100 inherited dystonia MONDO:0957388 autoimmune disease, multisystem, infantile-onset, 3 MONDO:0000213 OMIM:620430 OMIMPS:615952 autoimmune disease, multisystem, infantile-onset @@ -17343,6 +17326,7 @@ MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0017169 Orphanet:652 Orp MONDO:0007540 multiple endocrine neoplasia type 1 MONDO:0021227 Orphanet:652 Orphanet:100091 adrenal gland neoplasm MONDO:0007548 transient bullous dermolysis of the newborn MONDO:0006543 Orphanet:79411 Orphanet:303 epidermolysis bullosa dystrophica MONDO:0007549 generalized dominant dystrophic epidermolysis bullosa MONDO:0006543 Orphanet:231568 Orphanet:303 epidermolysis bullosa dystrophica +MONDO:0007558 self-limited childhood occipital epilepsy MONDO:0020072 Orphanet:25968 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0007560 reading seizures MONDO:0017768 Orphanet:166433 Orphanet:310 reflex epilepsy MONDO:0007561 multiple epiphyseal dysplasia type 1 MONDO:0016648 Orphanet:93308 Orphanet:251 multiple epiphyseal dysplasia MONDO:0007565 familial cylindromatosis MONDO:0011512 Orphanet:211 Orphanet:79493 Brooke-Spiegler syndrome @@ -19402,7 +19386,7 @@ MONDO:0015339 adrenomyeloneuropathy MONDO:0018544 Orphanet:139399 Orphanet:43 ad MONDO:0015340 drug rash with eosinophilia and systemic symptoms MONDO:0017396 Orphanet:139402 Orphanet:293815 toxic dermatosis MONDO:0015344 idiopathic acute transverse myelitis MONDO:0015342 Orphanet:139423 Orphanet:139417 acute transverse myelitis MONDO:0015345 perioral myoclonia with absences MONDO:0020072 Orphanet:139426 Orphanet:98259 childhood-onset epilepsy syndrome -MONDO:0015346 Jeavons syndrome MONDO:0020072 Orphanet:139431 Orphanet:98259 childhood-onset epilepsy syndrome +MONDO:0015346 epilepsy with eyelid myoclonia MONDO:0020072 Orphanet:139431 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0015347 multicentric reticulohistiocytosis MONDO:0015531 Orphanet:139436 Orphanet:157987 non-Langerhans cell histiocytosis MONDO:0015348 leukoencephalopathy with bilateral anterior temporal lobe cysts MONDO:0019046 Orphanet:139444 Orphanet:68356 leukodystrophy MONDO:0015349 progressive cavitating leukoencephalopathy MONDO:0019046 Orphanet:139447 Orphanet:68356 leukodystrophy @@ -19651,7 +19635,6 @@ MONDO:0016014 fetal minoxidil syndrome MONDO:0016677 Orphanet:1918 Orphanet:2515 MONDO:0016016 toluene embryopathy MONDO:0016677 Orphanet:1920 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016017 methimazole embryofetopathy MONDO:0016677 Orphanet:1923 Orphanet:251529 toxic or drug-related embryofetopathy MONDO:0016020 frontal encephalocele MONDO:0016057 Orphanet:1931 Orphanet:199647 isolated encephalocele -MONDO:0016022 early myoclonic encephalopathy MONDO:0016801 Orphanet:1935 Orphanet:254830 mitochondrial substrate carrier disorder MONDO:0016025 myoclonic-astatic epilepsy MONDO:0020072 Orphanet:1942 Orphanet:98259 childhood-onset epilepsy syndrome MONDO:0016026 infant epilepsy with migrant focal crisis MONDO:0020071 Orphanet:1943 Orphanet:98258 infantile epilepsy syndrome MONDO:0016027 benign neonatal seizures MONDO:0020070 Orphanet:1949 Orphanet:98257 neonatal epilepsy syndrome @@ -21317,8 +21300,8 @@ MONDO:0020302 Angelman syndrome due to maternal 15q11q13 deletion MONDO:0016913 MONDO:0020303 Angelman syndrome due to paternal uniparental disomy of chromosome 15 MONDO:0007113 Orphanet:98795 Orphanet:72 Angelman syndrome MONDO:0020304 isochromosomy Yp MONDO:0019935 Orphanet:98797 Orphanet:96325 isochromosome Y MONDO:0020305 isochromosomy Yq MONDO:0019935 Orphanet:98798 Orphanet:96325 isochromosome Y -MONDO:0020307 benign childhood occipital epilepsy, Panayiotopoulos type MONDO:0007558 Orphanet:98815 Orphanet:25968 benign occipital epilepsy -MONDO:0020308 benign childhood occipital epilepsy, Gastaut type MONDO:0007558 Orphanet:98816 Orphanet:25968 benign occipital epilepsy +MONDO:0020307 self-limited epilepsy with autonomic seizures MONDO:0007558 Orphanet:98815 Orphanet:25968 self-limited childhood occipital epilepsy +MONDO:0020308 childhood occipital visual epilepsy MONDO:0007558 Orphanet:98816 Orphanet:25968 self-limited childhood occipital epilepsy MONDO:0020310 familial focal epilepsy with variable foci MONDO:0017704 Orphanet:98820 Orphanet:309 familial partial epilepsy MONDO:0020311 chronic myelomonocytic leukemia MONDO:0020077 Orphanet:98823 Orphanet:98275 myelodysplastic/myeloproliferative disease MONDO:0020320 acute myeloblastic leukemia with maturation MONDO:0015667 Orphanet:98834 Orphanet:167714 acute myeloid leukemia by FAB classification 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 f5334f78..0ef681e3 100644 --- a/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv +++ b/src/ontology/reports/sync-subClassOf.direct-in-mondo-only.tsv @@ -16,6 +16,7 @@ MONDO:0000171 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type A m MONDO:0000172 MONDO:0018276 True muscular dystrophy-dystroglycanopathy, type B muscular dystrophy-dystroglycanopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000179 MONDO:0015148 True Neu-Laxova syndrome lissencephaly type 3 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000179 MONDO:0015159 True Neu-Laxova syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0000188 MONDO:0019214 True GLUT1 deficiency syndrome inborn carbohydrate metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0000193 MONDO:0015898 True cortisone reductase deficiency adrenogenital syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000208 MONDO:0800450 True microcephaly, short stature, and impaired glucose metabolism 1 microcephaly, short stature, and impaired glucose metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0000209 MONDO:0015168 True prenatal-onset spinal muscular atrophy with congenital bone fractures arthrogryposis multiplex congenita UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -1328,7 +1329,6 @@ MONDO:0001854 MONDO:0005328 True lacrimal apparatus disorder eye disorder UNSUPP MONDO:0001855 MONDO:0005283 True rubeosis iridis retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001856 MONDO:0000473 True splenic artery aneurysm arterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001857 MONDO:0005683 True Brucella canis brucellosis brucellosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0001858 MONDO:0002254 True Tietze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001859 MONDO:0019369 True algoneurodystrophy complex regional pain syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001860 MONDO:0006873 True folic acid deficiency anemia nutritional deficiency disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0001861 MONDO:0006294 True malignant parietal pleura tumor pleural cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -5345,7 +5345,6 @@ MONDO:0005575 MONDO:0005335 True colorectal cancer colorectal neoplasm UNSUPPORT MONDO:0005575 MONDO:0005814 True colorectal cancer intestinal cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005576 MONDO:0002459 True cryoglobulinemia type IV hypersensitivity disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005578 MONDO:0002614 True arthritic joint disease bone inflammation disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0005579 MONDO:0005027 True epilepsy, idiopathic generalized epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005580 MONDO:0005096 True esophageal squamous cell carcinoma squamous cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005580 MONDO:0019086 True esophageal squamous cell carcinoma carcinoma of esophagus UNSUPPORTED-MISSING SUPPORTED SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0005586 MONDO:0005070 True head and neck neoplasm neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -6902,7 +6901,7 @@ MONDO:0007554 MONDO:0017610 True epidermolysis bullosa simplex 1B, generalized i MONDO:0007555 MONDO:0017610 True pidermolysis bullosa simplex 5A, Ogna type epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007556 MONDO:0017610 True epidermolysis bullosa simplex 2F, with mottled pigmentation epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0007557 MONDO:0003847 True epidermolysis bullosa with congenital localized absence of skin and deformity of nails hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0007558 MONDO:0015650 True benign occipital epilepsy epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0007558 MONDO:0020072 True self-limited childhood occipital epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007559 MONDO:0015643 True photoparoxysmal response 1 photosensitive epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0007560 MONDO:0017768 True reading seizures reflex epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007561 MONDO:0016648 True multiple epiphyseal dysplasia type 1 multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED SUPPORTED @@ -8971,7 +8970,6 @@ MONDO:0010317 MONDO:0019181 True intellectual disability, X-linked, with or with MONDO:0010318 MONDO:0002010 True FG syndrome 4 FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010319 MONDO:0016160 True syndromic X-linked intellectual disability Hedera type X-linked intellectual disability-epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010320 MONDO:0019200 True retinitis pigmentosa 23 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010321 MONDO:0020836 True autism, susceptibility to, X-linked 1 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010322 MONDO:0019181 True intellectual disability, X-linked 2 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010324 MONDO:0019181 True intellectual disability, X-linked 81 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010325 MONDO:0020119 True X-linked intellectual disability, Stocco dos Santos type X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -8989,8 +8987,6 @@ MONDO:0010338 MONDO:0000425 True X-linked distal spinal muscular atrophy type 3 MONDO:0010338 MONDO:0001516 True X-linked distal spinal muscular atrophy type 3 spinal muscular atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010338 MONDO:0018894 True X-linked distal spinal muscular atrophy type 3 distal hereditary motor neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010339 MONDO:0859390 True epilepsy, X-linked 1, with variable learning disabilities and behavior disorders epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010341 MONDO:0020836 True autism, susceptibility to, X-linked 2 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010342 MONDO:0020836 True autism, susceptibility to, X-linked 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010344 MONDO:0019181 True intellectual disability, X-linked 45 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010347 MONDO:0019181 True intellectual disability, X-linked 84 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010349 MONDO:0009299 True ovarian dysgenesis 2 46 XX gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9076,12 +9072,10 @@ MONDO:0010434 MONDO:0018078 True synovial sarcoma soft tissue sarcoma UNSUPPORTE MONDO:0010435 MONDO:0005712 True nystagmus 6, congenital, X-linked congenital nystagmus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010437 MONDO:0000732 True severe X-linked mitochondrial encephalomyopathy combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010438 MONDO:0100244 True paroxysmal nocturnal hemoglobinuria 1 paroxysmal nocturnal hemoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0010440 MONDO:0020836 True autism, susceptibility to, X-linked 4 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010442 MONDO:0100249 True 46,XX sex reversal 3 46,XX testicular disorder of sex development UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010444 MONDO:0019403 True X-linked dyserythropoetic anemia with abnormal platelets and neutropenia congenital dyserythropoietic anemia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010447 MONDO:0019181 True intellectual disability, X-linked 19 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010448 MONDO:0016820 True moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome Moyamoya disease UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED UNSUPPORTED-MISSING -MONDO:0010449 MONDO:0020836 True autism, susceptibility to, X-linked 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010450 MONDO:0019181 True intellectual disability, X-linked 89 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010451 MONDO:0019181 True intellectual disability, X-linked 41 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010452 MONDO:0019181 True intellectual disability, X-linked 90 non-syndromic X-linked intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9104,7 +9098,6 @@ MONDO:0010466 MONDO:0100062 True multiple congenital anomalies-hypotonia-seizure MONDO:0010466 MONDO:0100247 True multiple congenital anomalies-hypotonia-seizures syndrome 2 multiple congenital anomalies-hypotonia-seizures syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010467 MONDO:0017010 True Xq27.3q28 duplication syndrome partial duplication of the long arm of chromosome X UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010468 MONDO:0016483 True aneurysm, intracranial berry, 5 intracranial berry aneurysm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010469 MONDO:0020836 True epsilon-trimethyllysine hydroxylase deficiency autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010471 MONDO:0016033 True Cornelia de Lange syndrome 5 Cornelia de Lange syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010472 MONDO:0005500 True developmental and epileptic encephalopathy, 36 congenital disorder of glycosylation type I UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010472 MONDO:0017740 True developmental and epileptic encephalopathy, 36 disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -9340,7 +9333,7 @@ MONDO:0010752 MONDO:0008642 True VACTERL association, X-linked, with or without MONDO:0010758 MONDO:0025445 True Wieacker-Wolff syndrome Wieacker-Wolff syndrome (spectrum) UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0010761 MONDO:0000428 True retinitis pigmentosa Y-linked Y-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010761 MONDO:0019200 True retinitis pigmentosa Y-linked retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0010763 MONDO:0010595 True spermatogenic failure, Y-linked, 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0010763 MONDO:0004983 True spermatogenic failure, Y-linked, 1 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0010764 MONDO:0033304 True hearing loss, Y-linked 1 nonsyndromic deafness, Y-linked UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0010765 MONDO:0001967 True 46,XY complete gonadal dysgenesis gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0010767 MONDO:0004983 True spermatogenic failure, Y-linked, 2 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -9936,7 +9929,6 @@ MONDO:0011620 MONDO:0018230 True metaphyseal dysplasia, Braun-Tinschert type ske MONDO:0011621 MONDO:0019054 True acropectoral syndrome congenital limb malformation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011624 MONDO:0019231 True transaldolase deficiency inborn disorder of pentose phosphate metabolism UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011625 MONDO:0019587 True autosomal dominant nonsyndromic hearing loss 18 autosomal dominant nonsyndromic hearing loss UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0011627 MONDO:0020836 True autism, susceptibility to, 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011628 MONDO:0019215 True propionic acidemia classic organic aciduria UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011629 MONDO:0005501 True MOGS-congenital disorder of glycosylation congenital disorder of glycosylation type II UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011629 MONDO:0017740 True MOGS-congenital disorder of glycosylation disorder of protein N-glycosylation UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -10080,7 +10072,6 @@ MONDO:0011821 MONDO:0018921 True Meckel syndrome, type 3 Meckel syndrome UNSUPPO MONDO:0011822 MONDO:0015231 True Bartter disease type 3 Bartter syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011823 MONDO:0015161 True developmental malformations-deafness-dystonia 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:0011823 MONDO:0044807 True developmental malformations-deafness-dystonia syndrome inherited dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0011824 MONDO:0020836 True autism, susceptibility to, 8 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011826 MONDO:0008733 True glucocorticoid deficiency 2 familial glucocorticoid deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011827 MONDO:0005453 True patent ductus arteriosus congenital heart disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011828 MONDO:0019502 True intellectual disability, autosomal recessive 2 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -10178,7 +10169,6 @@ MONDO:0011951 MONDO:0005144 True amyotrophic lateral sclerosis type 6 familial a MONDO:0011952 MONDO:0005144 True amyotrophic lateral sclerosis type 7 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011953 MONDO:0000166 True familial acute necrotizing encephalopathy encephalopathy, acute, infection-induced UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011954 MONDO:0024462 True melanoma, cutaneous malignant, susceptibility to, 4 susceptibility to familial cutaneous melanoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0011956 MONDO:0020836 True autism, susceptibility to, 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0011957 MONDO:0031166 True retinal macular dystrophy type 2 macular dystrophy, retinal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0011959 MONDO:0005093 True sweet syndrome skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0011960 MONDO:0005090 True schizophrenia 11 schizophrenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS SUPPORTED @@ -10405,7 +10395,6 @@ MONDO:0012253 MONDO:0016648 True multiple epiphyseal dysplasia, with severe prox MONDO:0012254 MONDO:0016648 True multiple epiphyseal dysplasia, with miniepiphyses multiple epiphyseal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012256 MONDO:0015149 True hereditary spastic paraplegia 28 pure hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012258 MONDO:0017610 True epidermolysis bullosa simplex 2E, with migratory circinate erythema epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012261 MONDO:0020836 True autism, susceptibility to, 6 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012262 MONDO:0007614 True fibrosis of extraocular muscles, congenital, 3c congenital fibrosis of extraocular muscles UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012264 MONDO:0005081 True preeclampsia/eclampsia 2 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012265 MONDO:0005081 True preeclampsia/eclampsia 3 preeclampsia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -10603,7 +10592,6 @@ MONDO:0012530 MONDO:0017576 True palmoplantar keratoderma-XX sex reversal-predis MONDO:0012530 MONDO:0017666 True palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome diffuse palmoplantar keratoderma UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012531 MONDO:0019600 True xeroderma pigmentosum group B xeroderma pigmentosum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012532 MONDO:0019180 True hereditary hemorrhagic telangiectasia type 4 hereditary hemorrhagic telangiectasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012533 MONDO:0020836 True autism, susceptibility to, 7 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012534 MONDO:0000732 True combined oxidative phosphorylation defect type 4 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012539 MONDO:0018772 True Joubert syndrome 6 Joubert syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012540 MONDO:0005150 True age related macular degeneration 4 age-related macular degeneration UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -10627,8 +10615,6 @@ MONDO:0012559 MONDO:0015134 True primary immunodeficiency syndrome due to p14 de MONDO:0012561 MONDO:0019719 True congenital anomalies of kidney and urinary tract 1 congenital anomaly of kidney and urinary tract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012562 MONDO:0016296 True holoprosencephaly 7 holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012565 MONDO:0019391 True Fanconi anemia complementation group N Fanconi anemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012566 MONDO:0020836 True autism, susceptibility to, 11 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012567 MONDO:0020836 True autism, susceptibility to, 12 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012569 MONDO:0008004 True mitral valve prolapse, myxomatous 3 familial mitral valve prolapse UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012571 MONDO:0016575 True primary ciliary dyskinesia 6 primary ciliary dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012573 MONDO:0017329 True vesicoureteral reflux 2 familial vesicoureteral reflux UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -10636,7 +10622,6 @@ MONDO:0012574 MONDO:0003847 True Potocki-Lupski syndrome hereditary disease UNSU MONDO:0012574 MONDO:0016950 True Potocki-Lupski syndrome partial duplication of the short arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012575 MONDO:0007029 True branchiootorenal syndrome 2 branchio-oto-renal syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012576 MONDO:0019037 True supranuclear palsy, progressive, 3 progressive supranuclear palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012578 MONDO:0020836 True autism, susceptibility to, 13 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012579 MONDO:0001437 True autoimmune pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012582 MONDO:0012580 True interstitial lung disease due to ABCA3 deficiency hereditary pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012583 MONDO:0005486 True tooth agenesis, selective, 5 tooth agenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -10649,8 +10634,6 @@ MONDO:0012590 MONDO:0003847 True XFE progeroid syndrome hereditary disease UNSUP MONDO:0012594 MONDO:0003832 True complement factor I deficiency complement deficiency UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0012596 MONDO:0018162 True PSAT deficiency neurometabolic disorder due to serine deficiency UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012598 MONDO:0016070 True fibromatosis, gingival, 4 hereditary gingival fibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012600 MONDO:0020836 True autism, susceptibility to, 9 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0012601 MONDO:0020836 True autism, susceptibility to, 10 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012602 MONDO:0019588 True autosomal recessive nonsyndromic hearing loss 24 hearing loss, autosomal recessive UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012603 MONDO:0044202 True episodic kinesigenic dyskinesia 2 episodic kinesigenic dyskinesia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012604 MONDO:0000062 True isolated microphthalmia 3 isolated microphthalmia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -10801,7 +10784,6 @@ MONDO:0012794 MONDO:0018762 True ANE syndrome non-acquired combined pituitary ho MONDO:0012796 MONDO:0019200 True retinitis pigmentosa 41 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012797 MONDO:0005349 True otosclerosis 8 otosclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0012799 MONDO:0024573 True hypertrophic cardiomyopathy 11 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED -MONDO:0012801 MONDO:0020836 True autism, susceptibility to, 15 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0012802 MONDO:0016073 True oculoauricular syndrome syndromic microphthalmia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0012803 MONDO:0017706 True diarrhea-vomiting due to trehalase deficiency disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012804 MONDO:0024573 True hypertrophic cardiomyopathy 12 familial hypertrophic cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -11148,12 +11130,10 @@ MONDO:0013255 MONDO:0017123 True arthrogryposis, renal dysfunction, and cholesta MONDO:0013256 MONDO:0003847 True chromosome 15q24 deletion syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013256 MONDO:0015159 True chromosome 15q24 deletion syndrome multiple congenital anomalies/dysmorphic syndrome-intellectual disability UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013256 MONDO:0016913 True chromosome 15q24 deletion syndrome partial deletion of the long arm of chromosome 15 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0013258 MONDO:0020836 True autism, susceptibility to, 16 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013261 MONDO:0018901 True dilated cardiomyopathy 1R left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013262 MONDO:0018901 True dilated cardiomyopathy 1S left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0013263 MONDO:0019200 True retinitis pigmentosa 54 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0013264 MONDO:0005144 True amyotrophic lateral sclerosis type 12 familial amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0013265 MONDO:0020836 True autism, susceptibility to, 17 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0013266 MONDO:0015802 True intellectual disability, autosomal dominant 20 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0013267 MONDO:0016894 True distal 16p11.2 microdeletion syndrome partial deletion of the short arm of chromosome 16 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013268 MONDO:0016643 True frontonasal dysplasia with alopecia and genital anomaly frontonasal dysplasia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -11769,7 +11749,6 @@ MONDO:0014013 MONDO:0017757 True maternal riboflavin deficiency disorder of meta MONDO:0014014 MONDO:0017610 True epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive epidermolysis bullosa simplex UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014015 MONDO:0019064 True hereditary spastic paraplegia 56 hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014016 MONDO:0015150 True hereditary spastic paraplegia 49 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014017 MONDO:0020836 True intellectual developmental disorder with autism and macrocephaly autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014018 MONDO:0015150 True hereditary spastic paraplegia 54 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014019 MONDO:0015990 True dystonia 24 focal, segmental or multifocal dystonia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014020 MONDO:0015150 True hereditary spastic paraplegia 55 complex hereditary spastic paraplegia UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -11794,7 +11773,6 @@ MONDO:0014036 MONDO:0004975 True Alzheimer disease 17 Alzheimer disease UNSUPPOR MONDO:0014037 MONDO:0004983 True spermatogenic failure 11 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014039 MONDO:0018158 True mitochondrial DNA depletion syndrome 11 mitochondrial DNA depletion syndrome UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014040 MONDO:0019026 True autosomal recessive osteopetrosis 8 autosomal recessive osteopetrosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0014041 MONDO:0020836 True autism, susceptibility to, 19 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014042 MONDO:0018901 True left ventricular noncompaction 7 left ventricular noncompaction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0014043 MONDO:0016660 True microcephalic primordial dwarfism due to ZNF335 deficiency autosomal recessive primary microcephaly UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0014046 MONDO:0016063 True Cowden syndrome 4 Cowden disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -12836,7 +12814,7 @@ MONDO:0015339 MONDO:0020127 True adrenomyeloneuropathy hereditary peripheral neu MONDO:0015340 MONDO:0017396 True drug rash with eosinophilia and systemic symptoms toxic dermatosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015344 MONDO:0015342 True idiopathic acute transverse myelitis acute transverse myelitis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015345 MONDO:0020072 True perioral myoclonia with absences childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0015346 MONDO:0020072 True Jeavons syndrome childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0015346 MONDO:0020072 True epilepsy with eyelid myoclonia childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0015347 MONDO:0002254 True multicentric reticulohistiocytosis syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0015347 MONDO:0015531 True multicentric reticulohistiocytosis non-Langerhans cell histiocytosis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0015348 MONDO:0019046 True leukoencephalopathy with bilateral anterior temporal lobe cysts leukodystrophy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -13207,7 +13185,6 @@ MONDO:0016016 MONDO:0016677 True toluene embryopathy toxic or drug-related embry MONDO:0016017 MONDO:0016677 True methimazole embryofetopathy toxic or drug-related embryofetopathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016020 MONDO:0016057 True frontal encephalocele isolated encephalocele UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016022 MONDO:0000412 True early myoclonic encephalopathy neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED -MONDO:0016022 MONDO:0016801 True early myoclonic encephalopathy mitochondrial substrate carrier disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0020072 True myoclonic-astatic epilepsy childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016026 MONDO:0020071 True infant epilepsy with migrant focal crisis infantile epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016027 MONDO:0000412 True benign neonatal seizures neonatal period electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED @@ -14600,7 +14577,6 @@ MONDO:0018209 MONDO:0008752 True Alexander disease type I Alexander disease UNSU MONDO:0018210 MONDO:0008752 True Alexander disease type II Alexander disease UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018213 MONDO:0015364 True hereditary sensory and autonomic neuropathy type 1 hereditary sensory and autonomic neuropathy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING SUPPORTED MONDO:0018213 MONDO:0018117 True hereditary sensory and autonomic neuropathy type 1 disorder of phospholipids, sphingolipids and fatty acids biosynthesis UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018214 MONDO:0005027 True generalized epilepsy with febrile seizures plus epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0018216 MONDO:0012496 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome Koolen-de Vries syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018216 MONDO:0016915 True Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome partial deletion of the long arm of chromosome 17 UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018217 MONDO:0012496 True Koolen-de Vries syndrome due to a point mutation Koolen-de Vries syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -15830,10 +15806,8 @@ MONDO:0020302 MONDO:0016913 True Angelman syndrome due to maternal 15q11q13 dele MONDO:0020303 MONDO:0007113 True Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020304 MONDO:0019935 True isochromosomy Yp isochromosome Y UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020305 MONDO:0019935 True isochromosomy Yq isochromosome Y UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020307 MONDO:0007558 True benign childhood occipital epilepsy, Panayiotopoulos type benign occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020307 MONDO:0020072 True benign childhood occipital epilepsy, Panayiotopoulos type childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020308 MONDO:0007558 True benign childhood occipital epilepsy, Gastaut type benign occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020308 MONDO:0020072 True benign childhood occipital epilepsy, Gastaut type childhood-onset epilepsy syndrome UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020307 MONDO:0007558 True self-limited epilepsy with autonomic seizures self-limited childhood occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0020308 MONDO:0007558 True childhood occipital visual epilepsy self-limited childhood occipital epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020310 MONDO:0017704 True familial focal epilepsy with variable foci familial partial epilepsy UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020311 MONDO:0001014 True chronic myelomonocytic leukemia chronic leukemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020311 MONDO:0006311 True chronic myelomonocytic leukemia myelodysplastic/myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -16051,6 +16025,9 @@ MONDO:0020604 MONDO:0000425 True X-linked dominant disease X-linked disease UNSU MONDO:0020605 MONDO:0000425 True X-linked recessive disease X-linked disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0020607 MONDO:0008323 True Liddle syndrome 1 Liddle syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0020628 MONDO:0020629 True microcephaly, growth restriction, and increased sister chromatid exchange 2 microcephaly, growth restriction and increased sister chromatid exchange UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING +MONDO:0020630 MONDO:0100062 True developmental and epileptic encephalopathy 91 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020631 MONDO:0100062 True developmental and epileptic encephalopathy 92 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0020632 MONDO:0100062 True developmental and epileptic encephalopathy 93 developmental and epileptic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0020633 MONDO:0004992 True anaplastic cancer cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020634 MONDO:0016642 True grade III meningioma meningioma UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020635 MONDO:0020633 True anaplastic meningioma anaplastic cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -17040,7 +17017,6 @@ MONDO:0029145 MONDO:0000358 True orofacial cleft 8 orofacial cleft UNSUPPORTED-M MONDO:0029147 MONDO:0004983 True spermatogenic failure 33 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0029148 MONDO:0004983 True spermatogenic failure 34 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0029465 MONDO:0100172 True intellectual developmental disorder, autosomal dominant 69 intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING -MONDO:0030004 MONDO:0020836 True autism, susceptibility to, 20 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030005 MONDO:0957599 True epilepsy, early-onset, with or without developmental delay epilepsy, early-onset UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0030006 MONDO:0000732 True combined oxidative phosphorylation deficiency 40 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0030007 MONDO:0000732 True combined oxidative phosphorylation deficiency 41 combined oxidative phosphorylation deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED @@ -18258,7 +18234,7 @@ MONDO:0054860 MONDO:0019588 True hearing loss, autosomal recessive 110 hearing l MONDO:0054861 MONDO:0019502 True intellectual disability, autosomal recessive 63 autosomal recessive non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0054862 MONDO:0019852 True premature ovarian failure 15 inherited primary ovarian failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0054865 MONDO:0016387 True encephalopathy due to mitochondrial and peroxisomal fission defect mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0056795 MONDO:0010595 True X-linked spermatogenic failure 1 Sertoli cell-only syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED +MONDO:0056795 MONDO:0004983 True X-linked spermatogenic failure 1 spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-SUBCLASS MONDO:0056796 MONDO:0005240 True obstructive nephropathy kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0056804 MONDO:0000628 True benign neoplasm of peripheral nervous system central nervous system organ benign neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0056805 MONDO:0003250 True benign peripheral nerve granular cell tumor benign granular cell tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -18834,6 +18810,7 @@ MONDO:0957301 MONDO:0004983 True spermatogenic failure 84 spermatogenic failure MONDO:0957303 MONDO:0968949 True palmoplantar keratoderma, epidermolytic, 2 palmoplantar keratoderma, epidermolytic UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957308 MONDO:0019064 True spastic paraplegia 90A, autosomal dominant hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED MONDO:0957309 MONDO:0019064 True spastic paraplegia 90B, autosomal recessive hereditary spastic paraplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED SUPPORTED +MONDO:0957314 MONDO:0019200 True retinitis pigmentosa 97 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957317 MONDO:0003847 True hematuria, benign familial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED MONDO:0957382 MONDO:0017338 True multiple mitochondrial dysfunctions syndrome 7 fatal multiple mitochondrial dysfunctions syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING MONDO:0957385 MONDO:0044807 True dystonia 37, early-onset, with striatal lesions inherited dystonia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING SUPPORTED UNSUPPORTED-MISSING @@ -19216,6 +19193,7 @@ MONDO:0000158 MONDO:0003847 False developmental dysplasia of the hip hereditary MONDO:0000159 MONDO:0003225 False bone marrow failure syndrome bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000159 MONDO:0003847 False bone marrow failure syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000160 MONDO:0016022 False epilepsy, familial adult myoclonic early myoclonic encephalopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0000160 MONDO:0100545 False epilepsy, familial adult myoclonic hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0005560 False encephalopathy, acute, infection-induced brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0020683 False encephalopathy, acute, infection-induced acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000166 MONDO:0021669 False encephalopathy, acute, infection-induced post-infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19232,6 +19210,7 @@ MONDO:0000181 MONDO:0004674 False microcephaly and chorioretinopathy chorioretin MONDO:0000181 MONDO:0100500 False microcephaly and chorioretinopathy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000182 MONDO:0002320 False congenital myasthenic syndrome with tubular aggregates congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000182 MONDO:0018940 False congenital myasthenic syndrome with tubular aggregates congenital myasthenic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0000188 MONDO:0045015 False GLUT1 deficiency syndrome carbohydrate transport disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0100033 False GLUT1 deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000188 MONDO:0100545 False GLUT1 deficiency syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000190 MONDO:0007263 False ventricular fibrillation cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19361,8 +19340,6 @@ MONDO:0000453 MONDO:0100547 False short QT syndrome cardiogenetic disease UNSUPP MONDO:0000455 MONDO:0020242 False cone dystrophy hereditary macular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0019189 False cerebral creatine deficiency syndrome inborn disorder of amino acid and other organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000456 MONDO:0045022 False cerebral creatine deficiency syndrome disorder of organic acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000456 MONDO:0100033 False cerebral creatine deficiency syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0000456 MONDO:0100545 False cerebral creatine deficiency syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000461 MONDO:0020699 False nutritional biotin deficiency biotin metabolic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000461 MONDO:0024298 False nutritional biotin deficiency vitamin deficiency disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0000462 MONDO:0002022 False eye adnexa disorder disorder of orbital region UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -19884,6 +19861,7 @@ MONDO:0001838 MONDO:0020683 False acute gonococcal prostatitis acute disease UNS MONDO:0001847 MONDO:0045050 False nuclear senile cataract nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001848 MONDO:0045049 False Morgagni cataract hypermature cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0001854 MONDO:0000462 False lacrimal apparatus disorder eye adnexa disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0001858 MONDO:0002254 False Tietze syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001858 MONDO:0006816 False Tietze syndrome arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001867 MONDO:0002312 False phaeohyphomycosis opportunistic mycosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0001867 MONDO:0044083 False phaeohyphomycosis alternariosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -20927,6 +20905,9 @@ MONDO:0005174 MONDO:0005468 False acute hypotension hypotensive disorder UNSUPPO MONDO:0005174 MONDO:0020683 False acute hypotension acute disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005180 MONDO:0021095 False Parkinson disease parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005180 MONDO:0100545 False Parkinson disease hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005181 MONDO:0002320 False progressive external ophthalmoplegia congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005181 MONDO:0003425 False progressive external ophthalmoplegia ophthalmoplegia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0005181 MONDO:0100545 False progressive external ophthalmoplegia hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005182 MONDO:0005167 False serous cystadenofibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005183 MONDO:0005179 False ovarian cystadenoma ovarian adenoma benign UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005184 MONDO:0005606 False pancreatic ductal adenocarcinoma tubular adenocarcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -21178,8 +21159,7 @@ MONDO:0005572 MONDO:0016541 False polycythemia due to hypoxia acquired secondary MONDO:0005576 MONDO:0007179 False cryoglobulinemia autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005578 MONDO:0006816 False arthritic joint disease arthropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005578 MONDO:0021166 False arthritic joint disease inflammatory disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005579 MONDO:0100545 False epilepsy, idiopathic generalized hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0005579 MONDO:0700007 False epilepsy, idiopathic generalized idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005579 MONDO:0100576 False idiopathic generalized epilepsy hereditary generalized epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005582 MONDO:0005451 False binge eating disorder eating disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005583 MONDO:0000001 False non-human animal disease disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005584 MONDO:0019512 False congenital left-sided heart lesions congenital heart malformation UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -21319,6 +21299,7 @@ MONDO:0005752 MONDO:0006130 False epidural abscess central nervous system neopla MONDO:0005752 MONDO:0024619 False epidural abscess central nervous system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005753 MONDO:0020579 False epiglottitis mucositis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005753 MONDO:0020592 False epiglottitis disorder of pharynx UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0005754 MONDO:0005579 False epilepsy with generalized tonic-clonic seizures idiopathic generalized epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0005754 MONDO:0100030 False epilepsy with generalized tonic-clonic seizures adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005755 MONDO:0700053 False equine infectious anemia viral infectious disease, non-human animal UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0005755 MONDO:0700170 False equine infectious anemia equine neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -22032,7 +22013,7 @@ MONDO:0007034 MONDO:0003847 False Adams-Oliver syndrome hereditary disease UNSUP MONDO:0007035 MONDO:0002406 False acanthosis nigricans dermatitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007036 MONDO:0003847 False Achard syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007038 MONDO:0003847 False Achoo syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0007039 MONDO:0021061 False neurofibromatosis type 2 neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0007039 MONDO:0021061 False NF2-related schwannomatosis neurofibromatosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0007040 MONDO:0000078 False Sakati-Nyhan syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007041 MONDO:0019796 False Apert syndrome acrocephalosyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0007043 MONDO:0000078 False Pfeiffer syndrome acrocephalopolysyndactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23285,6 +23266,7 @@ MONDO:0008565 MONDO:0018751 False familial thyroglossal duct cyst hereditary oto MONDO:0008566 MONDO:0005034 False thyroid cancer, nonmedullary, 2 thyroid gland follicular carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008566 MONDO:0017895 False thyroid cancer, nonmedullary, 2 familial papillary or follicular thyroid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008567 MONDO:0005075 False thyroid cancer, nonmedullary, 1 thyroid gland papillary carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0008567 MONDO:0100520 False thyroid cancer, nonmedullary, 1 NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008568 MONDO:0003847 False thyroid hormone plasma membrane transport defect hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008569 MONDO:0009043 False thyroid hormone resistance, generalized, autosomal dominant generalized resistance to thyroid hormone UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008570 MONDO:0020573 False thyrotoxic periodic paralysis, susceptibility to, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23420,9 +23402,7 @@ MONDO:0008751 MONDO:0018541 False corticosterone methyloxidase type 1 deficiency MONDO:0008751 MONDO:0045012 False corticosterone methyloxidase type 1 deficiency steroid metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008756 MONDO:0003847 False alopecia - intellectual disability syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008758 MONDO:0002254 False mitochondrial DNA depletion syndrome 4a syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008758 MONDO:0100033 False mitochondrial DNA depletion syndrome 4a metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008759 MONDO:0004069 False oxoglutaricaciduria inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008759 MONDO:0100033 False oxoglutaricaciduria metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008764 MONDO:0100453 False Leber congenital amaurosis 1 GUCY2D-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008765 MONDO:0100368 False Leber congenital amaurosis 2 RPE65-related recessive retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008767 MONDO:0019262 False neuronal ceroid lipofuscinosis 3 juvenile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23615,7 +23595,6 @@ MONDO:0008965 MONDO:0015160 False CHARGE syndrome multiple congenital anomalies/ MONDO:0008965 MONDO:0021635 False CHARGE syndrome neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008965 MONDO:0100547 False CHARGE syndrome cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008966 MONDO:0005154 False Aagenaes syndrome liver disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0008967 MONDO:0002320 False congenital bile acid synthesis defect 4 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0008967 MONDO:0013681 False congenital bile acid synthesis defect 4 alpha-methylacyl-CoA racemase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0008968 MONDO:0003847 False cholestasis with gallstone, ataxia, and visual disturbance hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0008969 MONDO:0003847 False cholesterol pneumonia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -23793,7 +23772,7 @@ MONDO:0009178 MONDO:0006543 False epidermolysis bullosa dystrophica Neurotrophic MONDO:0009181 MONDO:0015152 False epidermolysis bullosa simplex 5B, with muscular dystrophy autosomal recessive limb-girdle muscular dystrophy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009184 MONDO:0003847 False epidermolysis bullosa with diaphragmatic hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009186 MONDO:0003847 False epilepsy, photogenic, with spastic diplegia and intellectual disability hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009187 MONDO:0100029 False celiac disease-epilepsy-cerebral calcification syndrome antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009187 MONDO:0003847 False celiac disease-epilepsy-cerebral calcification syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009189 MONDO:0000226 False multiple epiphyseal dysplasia type 4 mineral metabolism disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009189 MONDO:0019052 False multiple epiphyseal dysplasia type 4 inborn errors of metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009190 MONDO:0003847 False epiphyseal dysplasia of femoral head, myopia, and deafness hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24175,10 +24154,7 @@ MONDO:0009661 MONDO:0005328 False mucopolysaccharidosis type 6 eye disorder UNSU MONDO:0009663 MONDO:0003847 False mucus inspissation of respiratory tract hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009664 MONDO:0021147 False mulibrey nanism disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009664 MONDO:0100306 False mulibrey nanism disorder of defective peroxisome oxidative status UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009665 MONDO:0100033 False biotinidase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009666 MONDO:0019242 False holocarboxylase synthetase deficiency inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009666 MONDO:0100033 False holocarboxylase synthetase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0009666 MONDO:0100545 False holocarboxylase synthetase deficiency hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009667 MONDO:0018939 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 muscle-eye-brain disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009667 MONDO:0700068 False muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3 myopathy caused by variation in POMGNT1 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009668 MONDO:0002254 False lethal multiple pterygium syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24203,8 +24179,9 @@ MONDO:0009694 MONDO:0003847 False myeloperoxidase deficiency hereditary disease MONDO:0009694 MONDO:0024626 False myeloperoxidase deficiency defective phagocytic cell engulfment UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009695 MONDO:0020076 False myeloproliferative disease, autosomal recessive myeloproliferative neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009696 MONDO:0000414 False juvenile myoclonic epilepsy childhood electroclinical syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0009696 MONDO:0005395 False juvenile myoclonic epilepsy movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0009696 MONDO:0005579 False juvenile myoclonic epilepsy idiopathic generalized epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009696 MONDO:0100030 False juvenile myoclonic epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0009696 MONDO:0100573 False juvenile myoclonic epilepsy combined generalized and focal epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0009697 MONDO:0002412 False Lafora disease disorder of glycogen metabolism UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0009697 MONDO:0005395 False Lafora disease movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0009698 MONDO:0005395 False Unverricht-Lundborg syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -24684,13 +24661,13 @@ MONDO:0010302 MONDO:0005328 False Ito hypomelanosis eye disorder UNSUPPORTED-MIS MONDO:0010302 MONDO:0019287 False Ito hypomelanosis ectodermal dysplasia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010302 MONDO:0019290 False Ito hypomelanosis hypopigmentation of the skin UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010304 MONDO:0000162 False Graves disease, susceptibility to, X-linked 1 autoimmune thyroid disease, susceptibility to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010305 MONDO:0002320 False creatine transporter deficiency congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010305 MONDO:0015327 False creatine transporter deficiency developmental anomaly of metabolic origin UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010306 MONDO:0002320 False X-linked intellectual disability, Cabezas type congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010308 MONDO:0100241 False thrombocytopenia, X-linked, with or without dyserythropoietic anemia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010312 MONDO:0003847 False radial ray deficiency, X-linked hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010314 MONDO:0020340 False polymicrogyria, bilateral perisylvian, X-linked bilateral perisylvian polymicrogyria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010319 MONDO:0100146 False syndromic X-linked intellectual disability Hedera type ATP6AP2-related disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010321 MONDO:0020836 False autism, susceptibility to, X-linked 1 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010323 MONDO:0002254 False Atkin-Flaitz syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010327 MONDO:0004069 False HSD10 mitochondrial disease inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010327 MONDO:0100545 False HSD10 mitochondrial disease hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24703,6 +24680,8 @@ MONDO:0010334 MONDO:0000761 False severe motor and intellectual disabilities-sen MONDO:0010335 MONDO:0021155 False X-linked cone-rod dystrophy 3 X-linked cone-rod dystrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010335 MONDO:0700243 False X-linked cone-rod dystrophy 3 CACNA1F-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010339 MONDO:0020119 False epilepsy, X-linked 1, with variable learning disabilities and behavior disorders X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS +MONDO:0010341 MONDO:0020836 False autism, susceptibility to, X-linked 2 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0010342 MONDO:0020836 False autism, susceptibility to, X-linked 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010348 MONDO:0020573 False dyslexia, susceptibility to, 9 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010353 MONDO:0002254 False deafness-intellectual disability, Martin-Probst type syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010354 MONDO:0020119 False Allan-Herndon-Dudley syndrome X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS @@ -24749,6 +24728,7 @@ MONDO:0010433 MONDO:0020573 False systemic lupus erythematosus, susceptibility t MONDO:0010435 MONDO:0700230 False nystagmus 6, congenital, X-linked GPR143-related foveal hypoplasia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010436 MONDO:0010283 False chromosome Xq28 duplication syndrome syndromic X-linked intellectual disability Lubs type UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010439 MONDO:0003847 False cardiomyopathy, fatal fetal, due to myocardial calcification hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010440 MONDO:0020836 False autism, susceptibility to, X-linked 4 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010441 MONDO:0000508 False CK syndrome syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010441 MONDO:0021147 False CK syndrome disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010441 MONDO:0100545 False CK syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24758,11 +24738,13 @@ MONDO:0010444 MONDO:0100089 False X-linked dyserythropoetic anemia with abnormal MONDO:0010446 MONDO:0005328 False X-linked cone dysfunction syndrome with myopia eye disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010448 MONDO:0002320 False moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010448 MONDO:0015160 False moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism 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:0010449 MONDO:0020836 False autism, susceptibility to, X-linked 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010456 MONDO:0003008 False renal cell carcinoma, Xp11-associated hereditary renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010456 MONDO:0017886 False renal cell carcinoma, Xp11-associated MIT family translocation renal cell carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010457 MONDO:0100124 False Ogden syndrome NAA10-related syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010466 MONDO:0002320 False multiple congenital anomalies-hypotonia-seizures syndrome 2 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010466 MONDO:0015905 False multiple congenital anomalies-hypotonia-seizures syndrome 2 syndromic dyslipidemia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010469 MONDO:0020836 False epsilon-trimethyllysine hydroxylase deficiency autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010471 MONDO:0019713 False Cornelia de Lange syndrome 5 non-syndromic limb reduction defect UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010472 MONDO:0002320 False developmental and epileptic encephalopathy, 36 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010477 MONDO:0000734 False blepharophimosis - intellectual disability syndrome, MKB type Ohdo syndrome and variants UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -24853,7 +24835,6 @@ MONDO:0010587 MONDO:0009176 False epidermodysplasia verruciformis, X-linked epid MONDO:0010589 MONDO:0002010 False Aarskog-Scott syndrome, X-linked FG syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010590 MONDO:0100000 False FG syndrome 1 MED12-related intellectual disability syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010592 MONDO:0020119 False focal dermal hypoplasia X-linked syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS -MONDO:0010595 MONDO:0004983 False Sertoli cell-only syndrome spermatogenic failure UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010596 MONDO:0018904 False membranoproliferative glomerulonephritis, X-linked primary membranoproliferative glomerulonephritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010597 MONDO:0003847 False glutamyl ribose-5-phosphate storage disease hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010598 MONDO:0020693 False glycogen storage disease IXa1 glycogen storage disease due to liver phosphorylase kinase deficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25012,19 +24993,14 @@ MONDO:0010785 MONDO:0015967 False maternally-inherited diabetes and deafness mon MONDO:0010785 MONDO:0016387 False maternally-inherited diabetes and deafness mitochondrial oxidative phosphorylation disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010786 MONDO:0005020 False chronic diarrhea with villous atrophy intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010787 MONDO:0002254 False Kearns-Sayre syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010787 MONDO:0002320 False Kearns-Sayre syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010787 MONDO:0024458 False Kearns-Sayre syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010788 MONDO:0004884 False Leber hereditary optic neuropathy eye degenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010788 MONDO:0016333 False Leber hereditary optic neuropathy familial dilated cardiomyopathy UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010788 MONDO:0043878 False Leber hereditary optic neuropathy hereditary optic atrophy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010789 MONDO:0002254 False MELAS syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010790 MONDO:0002254 False MERRF syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010790 MONDO:0002320 False MERRF syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0010790 MONDO:0100033 False MERRF syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010790 MONDO:0100545 False MERRF syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010791 MONDO:0020504 False myoglobinuria, recurrent hereditary recurrent myoglobinuria UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010793 MONDO:0003847 False nephropathy, chronic tubulointerstitial hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010794 MONDO:0100033 False NARP syndrome metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010796 MONDO:0005180 False Parkinson disease, mitochondrial Parkinson disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010797 MONDO:0002254 False Pearson syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0010798 MONDO:0002254 False proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25046,7 +25022,7 @@ MONDO:0010823 MONDO:0100274 False rhizomelic chondrodysplasia punctata type 3 al MONDO:0010825 MONDO:0002254 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010825 MONDO:0005267 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome heart disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010825 MONDO:0024458 False atrioventricular defect-blepharophimosis-radial and anal defect syndrome disorder of visual system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0010826 MONDO:0100545 False childhood absence epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0010826 MONDO:0005579 False childhood absence epilepsy idiopathic generalized epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0010828 MONDO:0800395 False retinitis pigmentosa 11 PRPF31-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0010829 MONDO:0014768 False CARASIL syndrome cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0010830 MONDO:0015674 False neuronal ceroid lipofuscinosis 8 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25597,6 +25573,7 @@ MONDO:0011619 MONDO:0003847 False crumpled helices and small mouth hereditary di MONDO:0011621 MONDO:0800066 False acropectoral syndrome polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011622 MONDO:0020573 False nephrolithiasis, uric acid, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011626 MONDO:0003847 False acromegaloid features, overgrowth, cleft palate, and hernia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011627 MONDO:0020836 False autism, susceptibility to, 5 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011633 MONDO:0002316 False Charcot-Marie-Tooth disease axonal type 2C motor peripheral neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011634 MONDO:0005336 False rippling muscle disease myopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011636 MONDO:0002254 False Diamond-Blackfan anemia 2 syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -25720,11 +25697,11 @@ MONDO:0011817 MONDO:0020573 False coronary heart disease, susceptibility to, 1 i MONDO:0011820 MONDO:0020573 False scoliosis, isolated, susceptibility to, 2 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011821 MONDO:0800066 False Meckel syndrome, type 3 polydactyly-syndactyly-triphalangism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011823 MONDO:0002320 False developmental malformations-deafness-dystonia syndrome congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0011824 MONDO:0020836 False autism, susceptibility to, 8 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0011825 MONDO:0003847 False streptococcus, group A, severity of infection by hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011827 MONDO:0005385 False patent ductus arteriosus vascular disorder UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011827 MONDO:0100547 False patent ductus arteriosus cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011835 MONDO:0002320 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0011835 MONDO:0100033 False sensory ataxic neuropathy, dysarthria, and ophthalmoparesis metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011836 MONDO:0003847 False thyroid Hurthle cell carcinoma hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0011838 MONDO:0100444 False Bothnia retinal dystrophy RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0011839 MONDO:0100444 False Newfoundland cone-rod dystrophy RLBP1-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -25804,6 +25781,7 @@ 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:0011956 MONDO:0020836 False autism, susceptibility to, 3 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS 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 @@ -25989,6 +25967,7 @@ MONDO:0012255 MONDO:0700125 False chromosome 18 pericentric inversion chromosome MONDO:0012257 MONDO:0002254 False Cerebrorenodigital syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012259 MONDO:0003847 False colloid cysts of third ventricle hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012260 MONDO:0020376 False cataract 35 early-onset nuclear cataract UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012261 MONDO:0020836 False autism, susceptibility to, 6 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012262 MONDO:0002320 False fibrosis of extraocular muscles, congenital, 3c congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012263 MONDO:0020573 False autoimmune disease, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012268 MONDO:0003780 False AIDS T-cell immunodeficiency UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26148,6 +26127,7 @@ MONDO:0012527 MONDO:0011060 False cataract 11 multiple types early-onset non-syn MONDO:0012528 MONDO:0018800 False hypogonadotropic hypogonadism 4 with or without anosmia Kallmann syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012530 MONDO:0006025 False palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012531 MONDO:0016354 False xeroderma pigmentosum group B xeroderma pigmentosum-Cockayne syndrome complex UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012533 MONDO:0020836 False autism, susceptibility to, 7 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012535 MONDO:0003847 False holoprosencephaly, recurrent infections, and monocytosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012536 MONDO:0800064 False osteogenesis imperfecta type 7 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:0012537 MONDO:0018050 False split-hand/foot malformation with long bone deficiency 2 tibial aplasia-ectrodactyly syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26171,11 +26151,14 @@ MONDO:0012563 MONDO:0017219 False holoprosencephaly 9 microform holoprosencephal MONDO:0012563 MONDO:0019756 False holoprosencephaly 9 lobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012563 MONDO:0019757 False holoprosencephaly 9 alobar holoprosencephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012564 MONDO:0003847 False Polyosteolysis-hyperostosis syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012566 MONDO:0020836 False autism, susceptibility to, 11 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012567 MONDO:0020836 False autism, susceptibility to, 12 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012568 MONDO:0020573 False osteoarthritis susceptibility 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012570 MONDO:0100118 False body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012572 MONDO:0003847 False Sakoda complex hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012574 MONDO:0002254 False Potocki-Lupski syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0012577 MONDO:0010940 False asthma-related traits, susceptibility to, 4 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012578 MONDO:0020836 False autism, susceptibility to, 13 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012579 MONDO:0007179 False autoimmune pulmonary alveolar proteinosis autoimmune disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012580 MONDO:0001437 False hereditary pulmonary alveolar proteinosis pulmonary alveolar proteinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012580 MONDO:0003847 False hereditary pulmonary alveolar proteinosis hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26188,13 +26171,14 @@ MONDO:0012587 MONDO:0020573 False hypertension, essential, susceptibility to, 7 MONDO:0012588 MONDO:0015674 False neuronal ceroid lipofuscinosis 7 late infantile neuronal ceroid lipofuscinosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012591 MONDO:0800064 False osteogenesis imperfecta type 5 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:0012592 MONDO:0800064 False osteogenesis imperfecta type 11 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:0012593 MONDO:0002254 False brain-lung-thyroid syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0012593 MONDO:0005151 False brain-lung-thyroid syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0005395 False brain-lung-thyroid syndrome movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012593 MONDO:0100520 False brain-lung-thyroid syndrome NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012593 MONDO:0100545 False brain-lung-thyroid syndrome hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012595 MONDO:0020573 False leprosy, susceptibility to, 4 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012597 MONDO:0700275 False prostate cancer, hereditary, 9 prostate cancer, hereditary UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012599 MONDO:0020573 False hypertension, essential, susceptibility to, 8 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0012600 MONDO:0020836 False autism, susceptibility to, 9 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING +MONDO:0012601 MONDO:0020836 False autism, susceptibility to, 10 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012604 MONDO:0016764 False isolated microphthalmia 3 isolated anophthalmia-microphthalmia syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0012606 MONDO:0000070 False Mycobacterium tuberculosis, susceptibility to, 2 Mycobacterium tuberculosis, susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012607 MONDO:0010940 False asthma-related traits, susceptibility to, 5 inherited susceptibility to asthma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING @@ -26309,6 +26293,7 @@ MONDO:0012795 MONDO:0003847 False hypophosphatemic rickets and hyperparathyroidi 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:0012801 MONDO:0020836 False autism, susceptibility to, 15 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0012805 MONDO:0017706 False childhood onset GLUT1 deficiency syndrome 2 disorder of carbohydrate transmembrane transport and absorption UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS 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 MONDO:0012809 MONDO:0005509 False histiocytoma, Angiomatoid fibrous histiocytoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -26586,10 +26571,12 @@ MONDO:0013247 MONDO:0007600 False Fanconi renotubular syndrome 2 primary Fanconi MONDO:0013251 MONDO:0003847 False Birbeck granule deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013254 MONDO:0001149 False microcephaly, seizures, and developmental delay microcephaly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0013257 MONDO:0020573 False leprosy, susceptibility to, 6 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013258 MONDO:0020836 False autism, susceptibility to, 16 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013259 MONDO:0019152 False Oguchi disease-2 Oguchi disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013260 MONDO:0003847 False esophagitis, eosinophilic, 2 hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013260 MONDO:0005361 False esophagitis, eosinophilic, 2 eosinophilic esophagitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0013263 MONDO:0800404 False retinitis pigmentosa 54 PCARE-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0013265 MONDO:0020836 False autism, susceptibility to, 17 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0013268 MONDO:0002051 False frontonasal dysplasia with alopecia and genital anomaly integumentary system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS 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 @@ -26981,6 +26968,7 @@ MONDO:0014009 MONDO:0019306 False autosomal recessive congenital ichthyosis 7 co MONDO:0014010 MONDO:0019306 False autosomal recessive congenital ichthyosis 9 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014011 MONDO:0019306 False autosomal recessive congenital ichthyosis 10 congenital non-bullous ichthyosiform erythroderma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING 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:0014017 MONDO:0020836 False intellectual developmental disorder with autism and macrocephaly autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS 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 @@ -26995,6 +26983,7 @@ MONDO:0014035 MONDO:0002320 False severe intellectual disability-progressive spa MONDO:0014035 MONDO:0100172 False severe intellectual disability-progressive spastic diplegia syndrome intellectual disability, autosomal dominant UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014035 MONDO:0100571 False severe intellectual disability-progressive spastic diplegia syndrome CTNNB1-related neurodevelopmental disorder and/or vitreoretinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014038 MONDO:0015356 False colorectal cancer, susceptibility to, 12 hereditary neoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014041 MONDO:0020836 False autism, susceptibility to, 19 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0014043 MONDO:0018230 False microcephalic primordial dwarfism due to ZNF335 deficiency skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014044 MONDO:0015160 False dysmorphism-conductive hearing loss-heart defect 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:0014047 MONDO:1040002 False Cowden syndrome 5 PIK3CA-related overgrowth spectrum UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27046,7 +27035,6 @@ MONDO:0014148 MONDO:0002254 False estrogen resistance syndrome syndromic disease MONDO:0014148 MONDO:0003847 False estrogen resistance syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0005039 False estrogen resistance syndrome reproductive system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014148 MONDO:0005151 False estrogen resistance syndrome endocrine system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0014150 MONDO:0016025 False developmental and epileptic encephalopathy 94 myoclonic-astatic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014150 MONDO:0016532 False developmental and epileptic encephalopathy 94 Lennox-Gastaut syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0014151 MONDO:0020573 False pulmonary hypertension, neonatal, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014153 MONDO:0100448 False cone-rod dystrophy 18 RAB28-related retinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -27322,6 +27310,7 @@ MONDO:0014629 MONDO:0023603 False autoimmune interstitial lung disease-arthritis MONDO:0014629 MONDO:0957408 False autoimmune interstitial lung disease-arthritis syndrome type 1 interferonopathy of childhood UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014631 MONDO:0018101 False hypomagnesemia, seizures, and intellectual disability familial primary hypomagnesemia with normocalciuria and normocalcemia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014633 MONDO:0016025 False myoclonic-atonic epilepsy myoclonic-astatic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0014633 MONDO:0100545 False myoclonic-atonic epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014634 MONDO:0016674 False 46,XY sex reversal 10 46,XY partial gonadal dysgenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014640 MONDO:0017160 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 behavioral variant of frontotemporal dementia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0014640 MONDO:0030923 False frontotemporal dementia and/or amyotrophic lateral sclerosis 3 frontotemporal dementia and/or amyotrophic lateral sclerosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -28003,13 +27992,10 @@ MONDO:0016012 MONDO:0005039 False diethylstilbestrol syndrome reproductive syste MONDO:0016016 MONDO:0700092 False toluene embryopathy neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016017 MONDO:0002254 False methimazole embryofetopathy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016018 MONDO:0021147 False diabetic embryopathy disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0016019 MONDO:0005027 False Rasmussen subacute encephalitis epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016019 MONDO:0020068 False Rasmussen subacute encephalitis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016019 MONDO:0100028 False Rasmussen subacute encephalitis immune epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016022 MONDO:0100022 False early myoclonic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016022 MONDO:0100545 False early myoclonic encephalopathy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016025 MONDO:0002254 False myoclonic-astatic epilepsy syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016025 MONDO:0019216 False myoclonic-astatic epilepsy inborn disorder of amino acid transport UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0016025 MONDO:0100545 False myoclonic-astatic epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016027 MONDO:0100545 False benign neonatal seizures hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0016028 MONDO:0003847 False erythromelalgia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0016028 MONDO:0005294 False erythromelalgia peripheral vascular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -28698,7 +28684,6 @@ MONDO:0017411 MONDO:0023603 False neonatal inflammatory skin and bowel disease h MONDO:0017411 MONDO:0100118 False neonatal inflammatory skin and bowel disease hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017417 MONDO:0003847 False renal-hepatic-pancreatic dysplasia hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0017418 MONDO:0005020 False chronic intestinal failure intestinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0017424 MONDO:0021004 False non-syndromic brachydactyly brachydactyly UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017427 MONDO:0021147 False congenital deformities of limbs disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017435 MONDO:1040010 False popliteal pterygium syndrome IRF6-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0017441 MONDO:0018230 False congenital absence of upper arm and forearm with hand present skeletal dysplasia UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29074,7 +29059,7 @@ MONDO:0018206 MONDO:0011577 False childhood-onset autosomal recessive myopathy w MONDO:0018211 MONDO:0005071 False Balint syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018212 MONDO:0003847 False familial cervical artery dissection hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018212 MONDO:0006061 False familial cervical artery dissection cervical artery dissection UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018214 MONDO:0100545 False generalized epilepsy with febrile seizures plus hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018214 MONDO:0100576 False generalized epilepsy with febrile seizures plus hereditary generalized epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018215 MONDO:0005071 False paraneoplastic neurologic syndrome nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018215 MONDO:0021073 False paraneoplastic neurologic syndrome paraneoplastic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018218 MONDO:0006025 False autosomal recessive cerebral atrophy autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29498,7 +29483,7 @@ MONDO:0018974 MONDO:0700266 False paraneoplastic pemphigus paraneoplastic cutane MONDO:0018975 MONDO:0021635 False neurofibromatosis type 1 neurocristopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018976 MONDO:0002254 False schisis association syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018978 MONDO:0005087 False IgG4-related mediastinitis respiratory system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0018981 MONDO:0005579 False benign idiopathic neonatal seizures epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0018981 MONDO:0700007 False benign idiopathic neonatal seizures idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018982 MONDO:0006025 False Niemann-Pick disease type C autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0018983 MONDO:0002254 False Tolosa-Hunt syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0018983 MONDO:0015083 False Tolosa-Hunt syndrome nuclear oculomotor paralysis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29551,8 +29536,6 @@ MONDO:0019040 MONDO:0700096 False chromosomal disorder human disease UNSUPPORTED MONDO:0019046 MONDO:0024237 False leukodystrophy inherited neurodegenerative disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019050 MONDO:0003847 False inherited hemoglobinopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019050 MONDO:0044348 False inherited hemoglobinopathy hemoglobinopathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019053 MONDO:0100033 False peroxisomal disease metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019053 MONDO:0100545 False peroxisomal disease hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019060 MONDO:0005381 False bone neoplasm bone disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019060 MONDO:0021581 False bone neoplasm connective tissue neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019064 MONDO:0100546 False hereditary spastic paraplegia hereditary neuromuscular disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29629,7 +29612,6 @@ MONDO:0019165 MONDO:0003847 False central precocious puberty hereditary disease MONDO:0019167 MONDO:0800113 False immunoglobulin A vasculitis necrotizing vasculitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019168 MONDO:0016127 False pyomyositis bacterial myositis UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019169 MONDO:0004069 False pyruvate dehydrogenase deficiency inborn mitochondrial metabolism disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS -MONDO:0019169 MONDO:0100033 False pyruvate dehydrogenase deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019170 MONDO:0043494 False polyarteritis nodosa arteritis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019171 MONDO:0002442 False familial long QT syndrome long QT syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019171 MONDO:0100547 False familial long QT syndrome cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29763,7 +29745,6 @@ MONDO:0019384 MONDO:0006009 False encephalitis lethargica viral encephalitis UNS MONDO:0019384 MONDO:0020068 False encephalitis lethargica postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019384 MONDO:0021095 False encephalitis lethargica parkinsonian disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019385 MONDO:0020068 False steroid-responsive encephalopathy associated with autoimmune thyroiditis postinfectious encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019385 MONDO:0100029 False steroid-responsive encephalopathy associated with autoimmune thyroiditis antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019386 MONDO:0020648 False progressive rubella panencephalitis rubella encephalitis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019388 MONDO:0002254 False pelvis syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019388 MONDO:0024296 False pelvis syndrome vascular neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -29836,7 +29817,7 @@ MONDO:0019475 MONDO:0004805 False subcutaneous panniculitis-like T-cell lymphoma MONDO:0019475 MONDO:0100118 False subcutaneous panniculitis-like T-cell lymphoma hereditary skin disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019480 MONDO:0004380 False Langerhans cell sarcoma dendritic cell sarcoma UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0019484 MONDO:0005560 False hypothalamic hamartomas with gelastic seizures brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0019485 MONDO:0005579 False idiopathic hemiconvulsion-hemiplegia syndrome epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0019485 MONDO:0700007 False idiopathic hemiconvulsion-hemiplegia syndrome idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019487 MONDO:0005395 False epilepsy with myoclonic absences movement disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019490 MONDO:0100547 False progressive familial heart block cardiogenetic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0019493 MONDO:0021209 False primary adult heart tumor heart neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30319,9 +30300,6 @@ MONDO:0020627 MONDO:0015650 False epileptic encephalopathy, infantile or early c MONDO:0020627 MONDO:0100545 False epileptic encephalopathy, infantile or early childhood hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020628 MONDO:0006025 False microcephaly, growth restriction, and increased sister chromatid exchange 2 autosomal recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020629 MONDO:0003847 False microcephaly, growth restriction and increased sister chromatid exchange hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0020630 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 1 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0020631 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 2 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING -MONDO:0020632 MONDO:0020627 False epileptic encephalopathy, infantile or early childhood, 3 epileptic encephalopathy, infantile or early childhood UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0020635 MONDO:0020665 False anaplastic meningioma high grade malignant neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020639 MONDO:0700064 False monosomy aneuploidy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0020640 MONDO:0000568 False autoimmune encephalitis autoimmune disorder of central nervous system UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30495,6 +30473,7 @@ MONDO:0021004 MONDO:0005172 False brachydactyly skeletal system disorder UNSUPPO MONDO:0021004 MONDO:0021147 False brachydactyly disorder of development or morphogenesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021009 MONDO:0044964 False salivary gland mucoepidermoid carcinoma oral cavity mucoepidermoid carcinoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021011 MONDO:0001595 False hereditary progressive chorea without dementia choreatic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0021011 MONDO:0100520 False hereditary progressive chorea without dementia NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021011 MONDO:0100545 False hereditary progressive chorea without dementia hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021012 MONDO:0020573 False susceptibility to visceral leishmaniasis, 1 inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021019 MONDO:0020605 False X-linked recessive ocular albinism X-linked recessive disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -30532,7 +30511,6 @@ MONDO:0021073 MONDO:0002254 False paraneoplastic syndrome syndromic disease UNSU MONDO:0021073 MONDO:0045054 False paraneoplastic syndrome cancer-related condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021074 MONDO:0045024 False precancerous condition cancer or benign tumor UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021075 MONDO:0021074 False neoplastic polyp precancerous condition UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0021081 MONDO:0100029 False anti-NMDA receptor encephalitis antibody mediated epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021082 MONDO:0006801 False Meckel diverticulum neoplasm ileal neoplasm UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0021083 MONDO:0002320 False congenital fibrosis of extraocular muscles type 1 congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0021084 MONDO:0024417 False vision disorder perceptual disorders UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -31702,6 +31680,7 @@ MONDO:0029140 MONDO:0015286 False glycosylphosphatidylinositol biosynthesis defe MONDO:0029140 MONDO:0024321 False glycosylphosphatidylinositol biosynthesis defect 18 disorder of GPI anchor biosynthesis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029143 MONDO:0003847 False intellectual developmental disorder with hypertelorism and distinctive facies hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0029144 MONDO:0003847 False extraoral halitosis due to methanethiol oxidase deficiency hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0030004 MONDO:0020836 False autism, susceptibility to, 20 autism, susceptiblity to UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0030012 MONDO:0003847 False Diets-Jongmans syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030018 MONDO:0003847 False autoinflammation with episodic fever and lymphadenopathy hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0030024 MONDO:0100500 False neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32862,7 +32841,9 @@ MONDO:0054754 MONDO:0800174 False encephalopathy, acute, infection-induced (herp MONDO:0054780 MONDO:0017319 False elliptocytosis 3 hereditary elliptocytosis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054837 MONDO:0015802 False intellectual disability, autosomal dominant 57 autosomal dominant non-syndromic intellectual disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054862 MONDO:0003225 False premature ovarian failure 15 bone marrow disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS +MONDO:0054865 MONDO:0005560 False encephalopathy due to mitochondrial and peroxisomal fission defect brain disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054865 MONDO:0100276 False encephalopathy due to mitochondrial and peroxisomal fission defect disorder of defective peroxisomal and mitochondrial fission UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0054865 MONDO:0100545 False encephalopathy due to mitochondrial and peroxisomal fission defect hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054866 MONDO:0007263 False sudden arrhythmia death syndrome cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054867 MONDO:0009264 False paraomphalocele gastroschisis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0054868 MONDO:0004567 False meconium ileus ileus UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -32995,8 +32976,6 @@ MONDO:0100025 MONDO:0100022 False epilepsy of infancy with migrating focal seizu MONDO:0100028 MONDO:0005027 False immune epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100033 MONDO:0005027 False metabolic epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100034 MONDO:0005528 False cerebral folate deficiency inborn vitamin metabolic disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100034 MONDO:0100033 False cerebral folate deficiency metabolic epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100034 MONDO:0100545 False cerebral folate deficiency hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100035 MONDO:0005027 False structural epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100038 MONDO:0700092 False complex neurodevelopmental disorder neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100042 MONDO:0007263 False cardiac conduction defect cardiac rhythm disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33011,7 +32990,6 @@ MONDO:0100054 MONDO:0100053 False idiopathic anaphylaxis anaphylaxis UNSUPPORTED MONDO:0100054 MONDO:0700007 False idiopathic anaphylaxis idiopathic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100058 MONDO:0019242 False hypervalinemia and hyperleucine-isoleucinemia inborn disorder of branched-chain amino acid metabolism UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100059 MONDO:0015691 False hypereosinophilia of undetermined significance hypereosinophilic syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0100062 MONDO:0005579 False developmental and epileptic encephalopathy epilepsy, idiopathic generalized UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-SUBCLASS MONDO:0100062 MONDO:0100022 False developmental and epileptic encephalopathy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100038 False developmental and epileptic encephalopathy complex neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100062 MONDO:0100500 False developmental and epileptic encephalopathy Mendelian neurodevelopmental disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33215,6 +33193,7 @@ MONDO:0100554 MONDO:0100545 False hereditary narcolepsy hereditary neurological MONDO:0100555 MONDO:0020573 False IgA nephropathy, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100560 MONDO:0006170 False ligneous conjunctivitis conjunctival disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0100566 MONDO:0100022 False myoclonic epilepsy in infancy neonatal/infantile epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0100574 MONDO:0005027 False generalized epilepsy epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0200000 MONDO:0002876 False uterine ligament adenosarcoma cervical adenosarcoma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0400000 MONDO:0024635 False small intestinal bacterial overgrowth small intestine disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0400000 MONDO:0043424 False small intestinal bacterial overgrowth digestive system infectious disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33412,7 +33391,6 @@ MONDO:0700275 MONDO:0003847 False prostate cancer, hereditary hereditary disease MONDO:0700275 MONDO:0008315 False prostate cancer, hereditary prostate cancer UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700279 MONDO:0000396 False spastic triplegia spastic cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0700280 MONDO:0021673 False post-treatment Lyme disease syndrome post-bacterial disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0700283 MONDO:0000400 False ataxic diplegic cerebral palsy mixed cerebral palsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800001 MONDO:0020573 False delayed sleep phase syndrome, susceptibility to inherited disease susceptibility UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800026 MONDO:0002254 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800026 MONDO:0002320 False central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease congenital nervous system disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS @@ -33564,8 +33542,8 @@ MONDO:0800447 MONDO:0020573 False bleeding disorder, platelet-type, 13, suscepti MONDO:0800450 MONDO:0003847 False microcephaly, short stature, and impaired glucose metabolism hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800451 MONDO:0100241 False congenital amegakaryocytic thrombocytopenia inherited thrombocytopenia UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0800452 MONDO:0009332 False congenital amegakaryocytic thrombocytopenia 1 congenital hematological disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING +MONDO:0800453 MONDO:0005579 False juvenile absence epilepsy idiopathic generalized epilepsy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS MONDO:0800453 MONDO:0100030 False juvenile absence epilepsy adolescent/adult-onset epilepsy syndrome UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0800453 MONDO:0100545 False juvenile absence epilepsy hereditary neurological disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800478 MONDO:0002254 False trigeminal trophic syndrome syndromic disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800480 MONDO:0016225 False non-verbal learning disability specific learning disability UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0800481 MONDO:0005167 False oral fibroma fibroma UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING @@ -33829,7 +33807,6 @@ MONDO:0957271 MONDO:0023603 False autoinflammatory disease, systemic, with vascu MONDO:0957273 MONDO:0019548 False Charcot-Marie-Tooth disease, dominant intermediate A autosomal dominant intermediate Charcot-Marie-Tooth disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957279 MONDO:0021944 False auditory neuropathy, autosomal dominant 2 auditory neuropathy UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957307 MONDO:0003847 False woolly hair-skin fragility syndrome hereditary disease UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING -MONDO:0957314 MONDO:0019200 False retinitis pigmentosa 97 retinitis pigmentosa UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-SUBCLASS UNSUPPORTED-MISSING MONDO:0957318 MONDO:0008171 False nephrolithiasis, calcium oxalate nephrolithiasis UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957318 MONDO:0100191 False nephrolithiasis, calcium oxalate inherited kidney disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING MONDO:0957337 MONDO:0005283 False isolated chorioretinal dystrophy retinal disorder UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING UNSUPPORTED-MISSING diff --git a/src/ontology/run.sh.conf b/src/ontology/run.sh.conf index f508dd35..b25f960a 100644 --- a/src/ontology/run.sh.conf +++ b/src/ontology/run.sh.conf @@ -1,3 +1,3 @@ ODK_IMAGE=odkfull -ODK_TAG=v1.5.2 +ODK_TAG=v1.5.3 ODK_DEBUG=yes diff --git a/src/ontology/slurp/doid.tsv b/src/ontology/slurp/doid.tsv index 703d15e3..ef599cda 100644 --- a/src/ontology/slurp/doid.tsv +++ b/src/ontology/slurp/doid.tsv @@ -16,7 +16,7 @@ MONDO:0975763 digenic dyskeratosis congenita DOID:0060984 MONDO:equivalentTo dig MONDO:0975764 preaxial polydactyly type iv DOID:0060985 MONDO:equivalentTo preaxial polydactyly type IV MONDO:0021003|MONDO:0000426 MONDO:0975765 preaxial polydactyly ii DOID:0060986 MONDO:equivalentTo preaxial polydactyly II MONDO:0000426|MONDO:0021003 MONDO:0975766 preaxial polydactyly i DOID:0060987 MONDO:equivalentTo preaxial polydactyly I MONDO:0021003|MONDO:0006025 -MONDO:0975767 pancreatic agenesis 2 DOID:0060988 MONDO:equivalentTo pancreatic agenesis 2 MONDO:0002356|MONDO:0006025 +MONDO:0975767 pancreatic agenesis 2 DOID:0060988 MONDO:equivalentTo pancreatic agenesis 2 MONDO:0009832|MONDO:0006025 MONDO:0975768 short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 DOID:0060989 MONDO:equivalentTo short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 1 MONDO:0002254|MONDO:0000426 MONDO:0975769 congenital disorder of deglycosylation DOID:0060991 MONDO:equivalentTo congenital disorder of deglycosylation MONDO:0019214 MONDO:0975770 bent bone dysplasia syndrome 1 DOID:0060992 MONDO:equivalentTo bent bone dysplasia syndrome 1 MONDO:0000833|MONDO:0000426 @@ -37,3 +37,16 @@ MONDO:0975784 autosomal dominant nonsyndromic deafness 88 DOID:0070611 MONDO:equ MONDO:0975785 autosomal dominant nonsyndromic deafness 89 DOID:0070612 MONDO:equivalentTo autosomal dominant nonsyndromic deafness 89 MONDO:0019587 MONDO:0975786 familial renal glucosuria DOID:0070613 MONDO:equivalentTo familial renal glucosuria MONDO:0000426|MONDO:0009297|MONDO:0006025 MONDO:0975787 chromosome 11 partial duplication syndrome DOID:0070614 MONDO:equivalentTo chromosome 11 partial duplication syndrome MONDO:0000762 +MONDO:0975812 sertoli cell-only syndrome DOID:0050457 MONDO:equivalentTo Sertoli cell-only syndrome MONDO:0005372 +MONDO:0975813 autosomal dominant isolated macrothrombocytopenia 2 DOID:0060995 MONDO:equivalentTo autosomal dominant isolated macrothrombocytopenia 2 MONDO:0002049|MONDO:0000426 +MONDO:0975814 poor metabolism of thiopurines 2 DOID:0060996 MONDO:equivalentTo poor metabolism of thiopurines 2 MONDO:0012503|MONDO:0000426 +MONDO:0975815 striatal degeneration 2 DOID:0060998 MONDO:equivalentTo striatal degeneration 2 MONDO:0007803|MONDO:0000426 +MONDO:0975816 mitochondrial trifunctional protein deficiency 2 DOID:0060999 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 2 MONDO:0012172 +MONDO:0975817 glycine encephalopathy 2 DOID:0061001 MONDO:equivalentTo glycine encephalopathy 2 MONDO:0011612 +MONDO:0975818 congenital amegakaryocytic thrombocytopenia 2 DOID:0061002 MONDO:equivalentTo congenital amegakaryocytic thrombocytopenia 2 MONDO:0002049|MONDO:0006025 +MONDO:0975819 pancreatic agenesis 1 DOID:0061003 MONDO:equivalentTo pancreatic agenesis 1 MONDO:0009832|MONDO:0006025 +MONDO:0975820 poor metabolism of thiopurines 1 DOID:0061004 MONDO:equivalentTo poor metabolism of thiopurines 1 MONDO:0012503 +MONDO:0975821 autoinflammation, antibody deficiency, and immune dysregulation syndrome DOID:0070615 MONDO:equivalentTo autoinflammation, antibody deficiency, and immune dysregulation syndrome MONDO:0003778|MONDO:0000426 +MONDO:0975822 glycine encephalopathy 1 DOID:0070616 MONDO:equivalentTo glycine encephalopathy 1 MONDO:0011612 +MONDO:0975823 rhabdoid tumor predisposition syndrome DOID:0070617 MONDO:equivalentTo rhabdoid tumor predisposition syndrome MONDO:0002254|MONDO:0000426 +MONDO:0975824 mitochondrial trifunctional protein deficiency 1 DOID:0070619 MONDO:equivalentTo mitochondrial trifunctional protein deficiency 1 MONDO:0012172 diff --git a/src/ontology/slurp/omim.tsv b/src/ontology/slurp/omim.tsv index cd3d4386..c023c240 100644 --- a/src/ontology/slurp/omim.tsv +++ b/src/ontology/slurp/omim.tsv @@ -13,5 +13,24 @@ MONDO:0975805 foveal hypoplasia 3 OMIM:620958 MONDO:equivalentTo foveal hypoplas MONDO:0975806 multiple mitochondrial dysfunctions syndrome 10 OMIM:620960 MONDO:equivalentTo multiple mitochondrial dysfunctions syndrome 10 MONDO:0017338 MONDO:0975807 cholestasis, progressive familial intrahepatic, 13 OMIM:620962 MONDO:equivalentTo cholestasis, progressive familial intrahepatic, 13 MONDO:0015762 MONDO:0975808 congenital myopathy 25 OMIM:620964 MONDO:equivalentTo congenital myopathy 25 MONDO:0019952 -MONDO:0975809 microphthalmia/coloboma 13 OMIM:620968 MONDO:equivalentTo microphthalmia/coloboma 13 +MONDO:0975809 microphthalmia/coloboma 13 OMIM:620968 MONDO:equivalentTo microphthalmia/coloboma 13 MONDO:0000170 MONDO:0975810 short stature with nonspecific skeletal abnormalities OMIMPS:616255 MONDO:equivalentTo Short stature with nonspecific skeletal abnormalities +MONDO:0975826 arthrogryposis multiplex congenita 7, x-linked OMIM:301127 MONDO:equivalentTo arthrogryposis multiplex congenita 7, X-linked MONDO:0015168 +MONDO:0975827 orofaciodigital syndrome 21 OMIM:301132 MONDO:equivalentTo orofaciodigital syndrome 21 MONDO:0015375 +MONDO:0975828 intellectual developmental disorder, x-linked 114 OMIM:301134 MONDO:equivalentTo intellectual developmental disorder, X-linked 114 +MONDO:0975829 anemia, congenital dyserythropoietic, type ivb OMIM:620969 MONDO:equivalentTo anemia, congenital dyserythropoietic, type ivb MONDO:0019403 +MONDO:0975830 myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 OMIM:620971 MONDO:equivalentTo myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 +MONDO:0975831 blood group, anton system OMIM:620975 MONDO:equivalentTo blood group, anton system +MONDO:0975832 immunodeficiency 127 OMIM:620977 MONDO:equivalentTo immunodeficiency 127 MONDO:0021094 +MONDO:0975833 leukodystrophy, hypomyelinating, 28 OMIM:620978 MONDO:equivalentTo leukodystrophy, hypomyelinating, 28 MONDO:0019046 +MONDO:0975834 immunodeficiency 128 OMIM:620983 MONDO:equivalentTo immunodeficiency 128 +MONDO:0975835 bronchiectasis and nasal polyposis OMIM:620984 MONDO:equivalentTo bronchiectasis and nasal polyposis +MONDO:0975836 karayol-borroto-haghshenas neurodevelopmental syndrome OMIM:620985 MONDO:equivalentTo karayol-borroto-haghshenas neurodevelopmental syndrome +MONDO:0975837 neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities OMIM:620987 MONDO:equivalentTo neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities +MONDO:0975838 intellectual developmental disorder, autosomal dominant 75 OMIM:620988 MONDO:equivalentTo intellectual developmental disorder, autosomal dominant 75 MONDO:0100172 +MONDO:0975839 pancreatic agenesis 3 OMIM:620991 MONDO:equivalentTo pancreatic agenesis 3 MONDO:0009832 +MONDO:0975840 retinitis pigmentosa 98 OMIM:620996 MONDO:equivalentTo retinitis pigmentosa 98 MONDO:0019200 +MONDO:0975841 fibromatosis, gingival, 6 OMIM:620999 MONDO:equivalentTo fibromatosis, gingival, 6 MONDO:0016070 +MONDO:0975842 spermatogenic failure 96 OMIM:621001 MONDO:equivalentTo spermatogenic failure 96 +MONDO:0975843 premature ovarian failure 25 OMIM:621002 MONDO:equivalentTo premature ovarian failure 25 +MONDO:0975844 acth-independent macronodular adrenal hyperplasia OMIMPS:219080 MONDO:equivalentTo ACTH-independent macronodular adrenal hyperplasia diff --git a/src/ontology/unmapped/doid-unmapped.owl b/src/ontology/unmapped/doid-unmapped.owl index ef04c92f..68baa581 100644 --- a/src/ontology/unmapped/doid-unmapped.owl +++ b/src/ontology/unmapped/doid-unmapped.owl @@ -27,6 +27,12 @@ + + + + + + @@ -113,6 +119,62 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -209,6 +271,38 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/unmapped/omim-unmapped.owl b/src/ontology/unmapped/omim-unmapped.owl index effcc010..1d8efabf 100644 --- a/src/ontology/unmapped/omim-unmapped.owl +++ b/src/ontology/unmapped/omim-unmapped.owl @@ -4721,6 +4721,12 @@ + + + + + + @@ -7115,12 +7121,6 @@ - - - - - - @@ -8969,6 +8969,12 @@ + + + + + + @@ -9119,6 +9125,12 @@ + + + + + + @@ -10739,6 +10751,12 @@ + + + + + + @@ -11861,6 +11879,12 @@ + + + + + + @@ -12509,12 +12533,6 @@ - - - - - - @@ -13577,12 +13595,6 @@ - - - - - - @@ -14195,12 +14207,6 @@ - - - - - - @@ -14279,6 +14285,12 @@ + + + + + + @@ -14549,6 +14561,12 @@ + + + + + + @@ -14867,6 +14885,12 @@ + + + + + + @@ -17693,6 +17717,12 @@ + + + + + + @@ -17729,6 +17759,12 @@ + + + + + + @@ -22697,12 +22733,6 @@ - - - - - - @@ -22751,6 +22781,12 @@ + + + + + + @@ -23789,12 +23825,6 @@ - - - - - - @@ -24191,12 +24221,6 @@ - - - - - - @@ -25085,6 +25109,12 @@ + + + + + + @@ -26795,12 +26825,6 @@ - - - - - - @@ -27431,12 +27455,6 @@ - - - - - - @@ -30562,25 +30580,6 @@ - - - - pml/rara fusion gene - PML - acute promyelocytic leukemia, inducer of - myl - This term has one or more labels that end with ', INCLUDED'. - PML - - - - - PML - - - - - @@ -30804,13 +30803,13 @@ - + - + ACTB @@ -31071,8 +31070,8 @@ - adenosine triphosphatase deficiency, anemia due to - adenosine triphosphatase deficiency, anemia due to + + true @@ -32698,6 +32697,7 @@ alk/npm1 fusion gene alk/rnf213 fusion gene ALK + alk receptor tyrosine kinase anaplastic lymphoma kinase This term has one or more labels that end with ', INCLUDED'. ALK @@ -49462,12 +49462,6 @@ - - - - - - DUH1 dyschromatosis universalis hereditaria 1 dyschromatosis universalis hereditaria 1 @@ -55798,12 +55792,6 @@ - - - - - - @@ -58639,20 +58627,20 @@ - GUCY1A3 + GUCY1A1 guanylate cyclase 1, soluble, alpha-3 guanylate cyclase, soluble, alpha-1 guanylyl cyclase, nitric oxide-sensitive, alpha-1 subunit guanylyl cyclase, soluble, alpha-3 nitric oxide-sensitive guanylyl cyclase, alpha-1 subunit nogc, alpha-1 subunit - GUCY1A3 + GUCY1A1 - GUCY1A3 + GUCY1A1 @@ -86749,12 +86737,6 @@ - - - - - - @@ -93463,6 +93445,37 @@ + + + + + + + + + + + + + + + + MAL + myelin and lymphocyte protein + t-cell differentiation protein + t-lymphocyte maturation-associated protein + MAL + + + + + + MAL + + + + + @@ -95796,6 +95809,12 @@ + + + + + + TNF cachectin tnf, macrophage-derived @@ -101696,7 +101715,6 @@ - @@ -105399,6 +105417,7 @@ + AIMAH1 acth-independent macronodular adrenal hyperplasia acth-independent macronodular adrenocortical hyperplasia @@ -109362,9 +109381,17 @@ + CNSHA7 + anemia, congenital, nonspherocytic hemolytic, 7 gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to - gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to + anemia, congenital, nonspherocytic hemolytic, 7 + + + + CNSHA7 + + @@ -110021,14 +110048,15 @@ - GSSDE + CNSHA6 + anemia, congenital, nonspherocytic hemolytic, 6 glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to - glutathione synthetase deficiency of erythrocytes, hemolytic anemia due to + anemia, congenital, nonspherocytic hemolytic, 6 - GSSDE + CNSHA6 @@ -111222,9 +111250,17 @@ + CNSHA5 + anemia, congenital, nonspherocytic hemolytic, 5 hemolytic anemia, nonspherocytic, due to hexokinase deficiency - hemolytic anemia, nonspherocytic, due to hexokinase deficiency + anemia, congenital, nonspherocytic hemolytic, 5 + + + + CNSHA5 + + @@ -120902,8 +120938,8 @@ 5-oxoprolinase deficiency + 5-oxoprolinuria due to 5-oxoprolinase deficiency OPLAHD - oxoprolinuria due to 5-oxoprolinase deficiency 5-oxoprolinase deficiency @@ -123310,21 +123346,29 @@ + CNSHA8 + anemia, congenital, nonspherocytic hemolytic, 8 hemolytic anemia due to p5n deficiency hemolytic anemia due to umph1 deficiency p5n deficiency pyrimidine 5-prime nucleotidase deficiency, hemolytic anemia due to umph1 deficiency uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to - uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to + anemia, congenital, nonspherocytic hemolytic, 8 + + + + CNSHA8 + + - 5-oxoprolinuria + 5-oxoprolinuria due to glutathione synthetase deficiency GSSD glutathione synthetase deficiency pyroglutamic aciduria @@ -123383,11 +123427,19 @@ + CNSHA2 + anemia, congenital, nonspherocytic hemolytic, 2 pk deficiency pyruvate kinase deficiency of erythrocyte pyruvate kinase deficiency of red cells - pyruvate kinase deficiency of red cells + anemia, congenital, nonspherocytic hemolytic, 2 + + + + CNSHA2 + + @@ -129033,6 +129085,36 @@ + + + + + + + + + + + + + + + + ZRSR2 + u2 small nuclear ribonucleoprotein auxiliary factor, small subunit 2 + zinc finger-, ccch domain-, and rna-binding motif-containing serine/arginine-rich protein 2 + ZRSR2 + + + + + + ZRSR2 + + + + + @@ -134457,15 +134539,20 @@ - + + + + + + + THOC2 tho complex, subunit 2 tho2, yeast, homolog of THOC2 - @@ -134798,7 +134885,6 @@ - @@ -135823,7 +135909,6 @@ - asperger syndrome, x-linked, susceptibility to, 2, formerly intellectual developmental disorder, X-linked AUTSX2 @@ -135843,7 +135928,6 @@ - AUTSX3 autism, susceptibility to, X-linked 3 autism, susceptibility to, X-linked 3 @@ -137539,6 +137623,18 @@ + + + + + + + + + + + + antisocial behavior, susceptibility to BRNRS brunner syndrome @@ -139881,7 +139977,6 @@ - @@ -140203,7 +140298,6 @@ - AUTSX5 autism, susceptibility to, X-linked 5 autism, susceptibility to, X-linked 5 @@ -140688,7 +140782,6 @@ - @@ -141145,10 +141238,18 @@ + CNSHA1 + anemia, congenital, nonspherocytic hemolytic, 1 anemia, nonspherocytic hemolytic, due to g6pd deficiency favism, susceptibility to - anemia, nonspherocytic hemolytic, due to g6pd deficiency + anemia, congenital, nonspherocytic hemolytic, 1 + + + + CNSHA1 + + @@ -141693,28 +141794,17 @@ - - - - - - - - - - - - - XLID12 + MRXSK intellectual developmental disorder, X-linked 12 + intellectual developmental disorder, x-linked, syndromic, kumar type mental retardation, X-linked 12 mental retardation, X-linked 35 - intellectual developmental disorder, X-linked 12 + intellectual developmental disorder, x-linked, syndromic, kumar type - XLID12 + MRXSK @@ -143636,15 +143726,15 @@ - HAEADA + CNSHA9 adenosine deaminase, elevated, hemolytic anemia due to - erythrocyte ada, elevated, hemolytic anemia due to - adenosine deaminase, elevated, hemolytic anemia due to + anemia, congenital, nonspherocytic hemolytic, 9 + anemia, congenital, nonspherocytic hemolytic, 9 - HAEADA + CNSHA9 @@ -144171,6 +144261,68 @@ + + + + + AMC7 + arthrogryposis multiplex congenita 7, X-linked + arthrogryposis multiplex congenita 7, X-linked + + + + + AMC7 + + + + + + + + + + + + + + + + + + + + + + OFD21 + orofaciodigital syndrome 21 + orofaciodigital syndrome 21 + + + + + OFD21 + + + + + + + + + XLID114 + intellectual developmental disorder, X-linked 114 + intellectual developmental disorder, X-linked 114 + + + + + XLID114 + + + + + @@ -148208,7 +148360,7 @@ - + @@ -148216,6 +148368,7 @@ amine oxidase (flavin-containing) a monoamine oxidase a MAOA + @@ -159967,6 +160120,12 @@ + + + + + + KLF1 erythroid kruppel-like factor kruppel-like factor 1 @@ -161708,12 +161867,6 @@ - - - - - - @@ -165957,12 +166110,6 @@ - - - - - - @@ -169126,17 +169273,22 @@ - + + + + + + + DTNA d18s892e dystrobrevin dystrobrevin, alpha dystrophin-related protein 3 DTNA - @@ -185281,12 +185433,6 @@ - - - - - - convulsions, familial febrile, 2 febrile seizures, familial, 2 gefs+, type 11 @@ -192168,6 +192314,39 @@ + + + + + + + + + + + + + + + + DHX9 + RNA helicase a + dead/h-box 9 + deah-box polypeptide 9 + dexh-box helicase 9 + nuclear DNA helicase 2 + DHX9 + + + + + + DHX9 + + + + + @@ -204175,18 +204354,6 @@ - - - - - - - - - - - - LVNC1 left ventricular noncompaction 1 left ventricular noncompaction 1 with or without congenital heart defects @@ -205268,12 +205435,6 @@ - - - - - - @@ -208034,35 +208195,6 @@ - - - - - - - - - - acs2/etv6 fusion gene - ACSL6 - acyl-coa synthetase 2 - acyl-coa synthetase long chain family, member 6 - fatty acid coa ligase, long chain 6 - kiaa0837 - long chain acyl-coa synthetase 2 - long chain acyl-coa synthetase 5 - This term has one or more labels that end with ', INCLUDED'. - ACSL6 - - - - - ACSL6 - - - - - @@ -217986,12 +218118,6 @@ - - - - - - @@ -224642,7 +224768,6 @@ - @@ -230904,12 +231029,6 @@ - - - - - - UVM2 melanoma, uveal, susceptibility to, 2 melanoma, uveal, susceptibility to, 2 @@ -239808,7 +239927,6 @@ - @@ -247871,7 +247989,6 @@ - @@ -255363,7 +255480,6 @@ - @@ -259677,12 +259793,6 @@ - - - - - - @@ -261320,10 +261430,16 @@ - + + + + + + + KDM1A amine oxidase, flavin-containing, 2 braf35/hdac complex, 110-kd subunit @@ -261332,7 +261448,6 @@ lysine-specific demethylase 1 lysine-specific demethylase 1a KDM1A - @@ -264183,7 +264298,6 @@ - @@ -264961,8 +265075,8 @@ PNKD3 generalized epilepsy and paroxysmal dyskinesia - paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy - paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy + paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy + paroxysmal nonkinesigenic dyskinesia 3 with or without generalized epilepsy @@ -269555,12 +269669,6 @@ - - - - - - @@ -278037,7 +278145,6 @@ - @@ -279547,7 +279654,6 @@ - @@ -279570,7 +279676,6 @@ - @@ -280177,7 +280282,6 @@ - @@ -281414,7 +281518,6 @@ - @@ -281437,7 +281540,6 @@ - @@ -289832,7 +289934,6 @@ - @@ -292057,7 +292158,6 @@ - AUTS15 autism, susceptibility to, 15 autism, susceptibility to, 15 @@ -298359,9 +298459,17 @@ + CNSHA3 adenylate kinase deficiency, hemolytic anemia due to - adenylate kinase deficiency, hemolytic anemia due to + anemia, congenital, nonspherocytic hemolytic, 3 + anemia, congenital, nonspherocytic hemolytic, 3 + + + + CNSHA3 + + @@ -300792,12 +300900,6 @@ - - - - - - @@ -307373,6 +307475,12 @@ + + + + + + TMEM216 transmembrane protein 216 TMEM216 @@ -309332,7 +309440,6 @@ - @@ -309615,7 +309722,6 @@ - @@ -310162,9 +310268,17 @@ + CNSHA4 + anemia, congenital, nonspherocytic hemolytic, 4 hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency - hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency + anemia, congenital, nonspherocytic hemolytic, 4 + + + + CNSHA4 + + @@ -313268,15 +313382,15 @@ - CDAN4 - anemia, congenital dyserythropoietic, type 4 - cda, type 4 - anemia, congenital dyserythropoietic, type 4 + CDAN4A + anemia, congenital dyserythropoietic, type iva + cda, type iva + anemia, congenital dyserythropoietic, type iva - CDAN4 + CDAN4A @@ -329279,7 +329393,6 @@ pr46b, chlamydomonas, homolog of schmalhans, zebrafish, homolog of CCDC103 - @@ -329323,12 +329436,6 @@ - - - - - - @@ -330904,6 +331011,37 @@ + + + + + + + + + + + + + + + + MSL2 + kiaa1585 + male-specific lethal 2, drosophila, homolog of + msl complex subunit 2 + MSL2 + + + + + + MSL2 + + + + + @@ -334839,7 +334977,6 @@ - @@ -335675,7 +335812,6 @@ - @@ -341849,6 +341985,36 @@ + + + + + + + + + + + + + + + + COPG1 + coatomer protein complex, subunit gamma-1 + cop, gamma-1 + COPG1 + + + + + + COPG1 + + + + + @@ -346251,6 +346417,12 @@ + + + + + + chromosome 16 inversion, 0.45-mb chromosome 16 inversion, 0.45-mb @@ -348148,6 +348320,7 @@ + @@ -354707,14 +354880,15 @@ - AILJK + AIAISD autoimmune interstitial lung, joint, and kidney disease - autoimmune interstitial lung, joint, and kidney disease + autoinflammation and autoimmunity, systemic, with immune dysregulation + autoinflammation and autoimmunity, systemic, with immune dysregulation - AILJK + AIAISD @@ -356110,22 +356284,10 @@ - - - - - - - - - - - - - + GNPNAT1 @@ -356895,6 +357057,37 @@ + + + + + + + + + + + + + + + + BORCS8 + bloc1-related complex, subunit 8 + borc, subunit 8 + mef2b neighbor gene + BORCS8 + + + + + + BORCS8 + + + + + @@ -358365,18 +358558,6 @@ - - - - - - - - - - - - CPRF cleft palate, psychomotor retardation, and distinctive facial features cleft palate, psychomotor retardation, and distinctive facial features @@ -366569,13 +366750,7 @@ - - - - - - - + @@ -367174,8 +367349,8 @@ MDCCAID - muscular dystrophy, congenital, with cataracts and intellectual disability - muscular dystrophy, congenital, with cataracts and intellectual disability + muscular dystrophy, congenital, with cataracts and impaired intellectual development + muscular dystrophy, congenital, with cataracts and impaired intellectual development @@ -368688,6 +368863,37 @@ + + + + + + + + + + + + + + + + WFDC2 + human epididymis protein 4 + wap 4-disulfide core domain 2 + wap5 + WFDC2 + + + + + + WFDC2 + + + + + @@ -385717,9 +385923,17 @@ + CNSHA10 + anemia, congenital, nonspherocytic hemolytic, 10 hemolytic anemia due to glutathione reductase deficiency - hemolytic anemia due to glutathione reductase deficiency + anemia, congenital, nonspherocytic hemolytic, 10 + + + + CNSHA10 + + @@ -388171,7 +388385,6 @@ - @@ -399473,6 +399686,18 @@ + + + + + + + + + + + + RHZDAN rhizomelic dysplasia, ain-naz type rhizomelic dysplasia, ain-naz type @@ -406348,14 +406573,14 @@ - MMCKR - myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis - myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis + MMCKR1 + myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 + myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 1 - MMCKR + MMCKR1 @@ -410169,6 +410394,7 @@ + @@ -410993,23 +411219,6 @@ - - - - CSTPP1 - centriolar satellite-associated tubulin polyglutamylase complex regulator 1 - chromosome 11 open reading frame 49 - CSTPP1 - - - - - CSTPP1 - - - - - @@ -415553,6 +415762,7 @@ PFIC13 cholestasis, progressive familial intrahepatic, 13 + maddirevula-shagrani-ji syndrome cholestasis, progressive familial intrahepatic, 13 @@ -415584,6 +415794,7 @@ + MCOPCB13 microphthalmia/coloboma 13 microphthalmia/coloboma 13 @@ -415597,6 +415808,423 @@ + + + + + CDAN4B + anemia, congenital dyserythropoietic, type ivb + anemia, congenital, with hereditary persistence of fetal and embryonic hemoglobin + cda, type ivb + anemia, congenital dyserythropoietic, type ivb + + + + + CDAN4B + + + + + + + + + + + + + + + + + + + + + ZNF808 + zinc finger protein 808 + ZNF808 + + + + + + ZNF808 + + + + + + + + + MMCKR2 + myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 + myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 + + + + + MMCKR2 + + + + + + + + + + + + + + + + + + + + + ZNF862 + zinc finger protein 862 + ZNF862 + + + + + + ZNF862 + + + + + + + + + anwj-negative phenotype + blood group, anton system + This term has one or more labels that end with ', INCLUDED'. + blood group, anton system + + + + + + + + + IMD127 + immunodeficiency 127 + immunodeficiency 127, mycobacteriosis, autosomal recessive + immunodeficiency 127 + + + + + IMD127 + + + + + + + + + + + + + + + + + + + + + + HLD28 + leukodystrophy, hypomyelinating, 28 + leukodystrophy, hypomyelinating, 28 + + + + + HLD28 + + + + + + + + + + + + + + + + + + + + + IMD128 + immunodeficiency 128 + immunodeficiency 128 + + + + + IMD128 + + + + + + + + + + + + + + + + + + + + + BENP + bronchiectasis and nasal polyposis + bronchiectasis and nasal polyposis + + + + + BENP + + + + + + + + + + + + + + + + + + + + + KBHS + karayol-borroto-haghshenas neurodevelopmental syndrome + karayol-borroto-haghshenas neurodevelopmental syndrome + + + + + KBHS + + + + + + + + + + + + + + + + + + + + + NDOABA + neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities + neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities + + + + + NDOABA + + + + + + + + + + + + + + + + + + + + + + MRD75 + intellectual developmental disorder, autosomal dominant 75 + intellectual developmental disorder, autosomal dominant 75 + + + + + MRD75 + + + + + + + + + + AIMAH3 + acth-independent macronodular adrenal hyperplasia 3 + cushing syndrome, food-dependent + acth-independent macronodular adrenal hyperplasia 3 + + + + + AIMAH3 + + + + + + + + + + + + + + + + + + + + + + PAGEN3 + pancreatic agenesis 3 + pancreatic agenesis 3 + + + + + PAGEN3 + + + + + + + + + + RP98 + retinitis pigmentosa 98 + retinitis pigmentosa 98 + + + + + RP98 + + + + + + + + + + + + + + + + + + + + + + GINGF6 + fibromatosis, gingival, 6 + fibromatosis, gingival, 6 + + + + + GINGF6 + + + + + + + + + SPGF96 + spermatogenic failure 96 + spermatogenic failure 96 + + + + + SPGF96 + + + + + + + + + POF25 + premature ovarian failure 25 + premature ovarian failure 25 + + + + + POF25 + + + + + @@ -417688,15 +418316,6 @@ - - - - Autism, susceptiblity to - Autism, susceptiblity to - - - - @@ -417949,6 +418568,15 @@ + + + + ACTH-independent macronodular adrenal hyperplasia + ACTH-independent macronodular adrenal hyperplasia + + + + @@ -422100,6 +422728,19 @@ + + + + + + + + + + + + + diff --git a/src/sparql/class-count-by-prefix.sparql b/src/sparql/class-count-by-prefix.sparql index 0c4d2844..a6a4851e 100644 --- a/src/sparql/class-count-by-prefix.sparql +++ b/src/sparql/class-count-by-prefix.sparql @@ -7,4 +7,4 @@ SELECT ?prefix (COUNT(DISTINCT ?cls) AS ?numberOfClasses) WHERE FILTER (!isBlank(?cls)) BIND( STRBEFORE(STRAFTER(str(?cls),"http://purl.obolibrary.org/obo/"), "_") AS ?prefix) } -GROUP BY ?prefix +GROUP BY ?prefix \ No newline at end of file