Autosomal Recessive Spinocerebellar Ataxia 30
Disease ID: disease_node_16026
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| Dbxref | MIM:619405 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR30 |
| Doid Label | autosomal recessive spinocerebellar ataxia 30 |
| Doid Description | An autosomal recessive cerebellar ataxia characterized by childhood-onset global developmental delay with variably impaired intellectual development, motor dysfunction, and cerebellar ataxia that has_material_basis_in homozygous mutation in the PITRM1 gene on chromosome 10p15. |
| Disease Node Id | disease_node_16026 |
| Doid Id | DOID_0070411 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 30 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)