Ataxia With Oculomotor Apraxia Type 3
Disease ID: disease_node_16039
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| Dbxref | MIM:615217 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | ataxia-oculomotor apraxia 3 |
| Doid Label | ataxia with oculomotor apraxia type 3 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. |
| Disease Node Id | disease_node_16039 |
| Doid Id | DOID_0060557 |
| Label | Ataxia With Oculomotor Apraxia Type 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)