Autosomal Recessive Spinocerebellar Ataxia 23
Disease ID: disease_node_16012
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| Dbxref | MIM:616949, ORDO:404493 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAR23, autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency |
| Doid Label | autosomal recessive spinocerebellar ataxia 23 |
| Doid Description | An autosomal recessive cerebellar ataxia characterized by epilepsy, intellectual disability, and gait ataxia that has_material_basis_in homozygous or compound heterozygous mutation in the TDP2 gene on chromosome 6p22.3. |
| Disease Node Id | disease_node_16012 |
| Doid Id | DOID_0111613 |
| Label | Autosomal Recessive Spinocerebellar Ataxia 23 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)