Autosomal Recessive Spinocerebellar Ataxia 31
Disease ID: disease_node_16025
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| Dbxref | MIM:619422 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR31 |
| Doid Label | autosomal recessive spinocerebellar ataxia 31 |
| Doid Description | An autosomal recessive cerebellar ataxia characterized by global developmental delay with hypotonia and variably impaired intellectual and language development that has_material_basis_in homozygous or compound heterozygous mutation in the ATG7 gene on chromosome 3p25. |
| Disease Node Id | disease_node_16025 |
| Doid Id | DOID_0070412 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 31 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)