Spinocerebellar Ataxia With Axonal Neuropathy 2
Disease ID: disease_node_16041
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| Dbxref | GARD:12860, MIM:606002, ORDO:64753 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | AOA2, SCAN2, SCAR1, ataxia with oculomotor apraxia type 2, autosomal recessive spinocerebellar ataxia 1, autosomal recessive spinocerebellar ataxia with axonal neuropathy 2, spinocerebellar ataxia with axonal neuropathy type 2 |
| Doid Label | spinocerebellar ataxia with axonal neuropathy 2 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. |
| Disease Node Id | disease_node_16041 |
| Doid Id | DOID_0050755 |
| Label | Spinocerebellar Ataxia With Axonal Neuropathy 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)