Joubert Syndrome 1
Disease ID: disease_node_14705
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| Dbxref | MIM:213300 |
|---|---|
| Subclassof | DOID_0050777 |
| Data Source | DOID |
| Synonyms | CORS1, CPD4, JBTS1, cerebellooculorenal syndrome 1, cerebelloparenchymal disorder IV |
| Doid Label | Joubert syndrome 1 |
| Doid Description | A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34. |
| Disease Node Id | disease_node_14705 |
| Doid Id | DOID_0110980 |
| Label | Joubert Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)