X-Linked Spinocerebellar Ataxia 1
Disease ID: disease_node_16061
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| Dbxref | MIM:302500, ORDO:1175 |
|---|---|
| Subclassof | DOID_0080012, DOID_0111828 |
| Data Source | DOID |
| Synonyms | SCAX1, X-linked progressive cerebellar ataxia |
| Doid Label | X-linked spinocerebellar ataxia 1 |
| Doid Description | An X-linked cerebellar ataxia characterized by hypotonia at birth, delayed motor development, gait ataxia, difficulty standing, dysarthria, and slow eye movements that has_material_basis_in hemizygous mutation in the ATP2B3 gene on chromosome Xq28. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_16061 |
| Doid Id | DOID_0111829 |
| Label | X-Linked Spinocerebellar Ataxia 1 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from X-Linked Cerebellar Ataxia(ID:disease_node_16059) (Disease)