Ataxia-Oculomotor Apraxia Type 4
Disease ID: disease_node_16017
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| Dbxref | GARD:13111, MIM:616267, ORDO:459033 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Doid Label | ataxia-oculomotor apraxia type 4 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by onset of dystonia and ataxia in the first decade and that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13. |
| Disease Node Id | disease_node_16017 |
| Doid Id | DOID_0081383 |
| Label | Ataxia-Oculomotor Apraxia Type 4 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)