Joubert Syndrome 31
Disease ID: disease_node_14709
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| Dbxref | MIM:617761 |
|---|---|
| Subclassof | DOID_0050777 |
| Data Source | DOID |
| Doid Label | Joubert syndrome 31 |
| Doid Description | A Joubert syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the CEP120 gene on chromosome 5q23. |
| Disease Node Id | disease_node_14709 |
| Doid Id | DOID_0080277 |
| Label | Joubert Syndrome 31 |
- Outgoing r'ship
SUBCLASS_OFto/from Joubert Syndrome(ID:disease_node_14692) (Disease)