Autosomal Recessive Spinocerebellar Ataxia 21
Disease ID: disease_node_16013
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| Dbxref | MIM:616719, ORDO:466794 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR21, acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, autosomal recessive spinocerebellar ataxia 21 with hepatopathy |
| Doid Label | autosomal recessive spinocerebellar ataxia 21 |
| Doid Description | An autosomal recessive cerebellar ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13. |
| Disease Node Id | disease_node_16013 |
| Doid Id | DOID_0111155 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 21 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)