Autosomal Recessive Spinocerebellar Ataxia 2
Disease ID: disease_node_16034
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| Dbxref | MIM:213200 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR2 |
| Doid Label | autosomal recessive spinocerebellar ataxia 2 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by juvenile onset of progressive cerebellar ataxia, axonal sensorimotor peripheral neuropathy, and increased serum alpha-fetoprotein, and has_material_basis_in homozygous or compound heterozygous mutation in the senataxin gene on chromosome 9q34. |
| Disease Node Id | disease_node_16034 |
| Doid Id | DOID_0080061 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)