Joubert Syndrome 16
Disease ID: disease_node_14701
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| Dbxref | MIM:614465 |
|---|---|
| Subclassof | DOID_0050777 |
| Data Source | DOID |
| Synonyms | JBTS16 |
| Doid Label | Joubert syndrome 16 |
| Doid Description | A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q. |
| Disease Node Id | disease_node_14701 |
| Doid Id | DOID_0110985 |
| Label | Joubert Syndrome 16 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)