Joubert Syndrome 15
Disease ID: disease_node_14702
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:614464 |
|---|---|
| Subclassof | DOID_0050777, DOID_0080578 |
| Data Source | DOID |
| Synonyms | JBTS15 |
| Doid Label | Joubert syndrome 15 |
| Doid Description | A Joubert syndrome characterized by ataxia, hypotonia, delayed psychomotor development, and variable mental retardation that has_material_basis_in homozygous mutation in the CEP41 gene on chromosome 7q32. |
| Has Material Basis In | GENO_0000930 |
| Disease Node Id | disease_node_14702 |
| Doid Id | DOID_0110984 |
| Label | Joubert Syndrome 15 |
- Outgoing r'ship
SUBCLASS_OFto/from Digenic Disease(ID:disease_node_13627) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)