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loading...| Preferred Name |
Joubert syndrome 1 |
|
| Synonyms |
CORS1 |
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| Definitions |
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110980 |
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| database_cross_reference |
OMIM:213300 |
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| definition |
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. |
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| has exact synonym |
CORS1 cerebelloparenchymal disorder IV cerebellooculorenal syndrome 1 JBTS1 CPD4 |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0110980 |
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| label |
Joubert syndrome 1 |
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| notation |
DOID:0110980 |
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| prefLabel |
Joubert syndrome 1 |
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| subClassOf |
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