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#">
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