Autosomal Recessive Spinocerebellar Ataxia 7
Disease ID: disease_node_16036
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| Dbxref | GARD:12232, MIM:609270 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR7 |
| Doid Label | autosomal recessive spinocerebellar ataxia 7 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by onset of progressive gait difficulties, eye movement abnormalities, and dysarthria in the first or second decade of life and that has_material_basis_in compound heterozygous mutation in the TPP1 gene on chromosome 11p15. |
| Disease Node Id | disease_node_16036 |
| Doid Id | DOID_0080059 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 7 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)