Joubert Syndrome 13
Disease ID: disease_node_14704
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| Dbxref | MIM:614173 |
|---|---|
| Subclassof | DOID_0050777 |
| Data Source | DOID |
| Synonyms | JBTS13 |
| Doid Label | Joubert syndrome 13 |
| Doid Description | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the TCTN1 gene on chromosome 12q24. |
| Disease Node Id | disease_node_14704 |
| Doid Id | DOID_0110982 |
| Label | Joubert Syndrome 13 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)