Ataxia With Oculomotor Apraxia Type 1
Disease ID: disease_node_16042
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| Dbxref | GARD:9283, MIM:208920 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Doid Label | ataxia with oculomotor apraxia type 1 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. |
| Disease Node Id | disease_node_16042 |
| Doid Id | DOID_0050754 |
| Label | Ataxia With Oculomotor Apraxia Type 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)