Joubert Syndrome 17
Disease ID: disease_node_14700
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| Dbxref | MIM:614615 |
|---|---|
| Subclassof | DOID_0050777 |
| Data Source | DOID |
| Synonyms | JBTS17 |
| Doid Label | Joubert syndrome 17 |
| Doid Description | A Joubert syndrome characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation that has_material_basis_in compound heterozygous mutation in the C5ORF42 gene on chromosome 5p13. |
| Disease Node Id | disease_node_14700 |
| Doid Id | DOID_0110986 |
| Label | Joubert Syndrome 17 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)