Autosomal Recessive Spinocerebellar Ataxia 18
Disease ID: disease_node_16018
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| Dbxref | MIM:616204 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR18 |
| Doid Label | autosomal recessive spinocerebellar ataxia 18 |
| Doid Description | An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has_material_basis_in homozygous mutation in the GRID2 gene on chromosome 4q22. |
| Disease Node Id | disease_node_16018 |
| Doid Id | DOID_0080042 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 18 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)