Spinocerebellar Ataxia With Axonal Neuropathy 1
Disease ID: disease_node_16014
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| Dbxref | GARD:10000, ICD10CM:G60.2, MIM:607250, ORDO:94124 |
|---|---|
| Subclassof | DOID_0050950 |
| Data Source | DOID |
| Synonyms | SCAN1, autosomal recessive spinocerebellar ataxia with axonal neuropathy 1, spinocerebellar ataxia with axonal neuropathy type 1 |
| Doid Label | spinocerebellar ataxia with axonal neuropathy 1 |
| Doid Description | A nervous system disease characterized by autosomal recessive inheritance of spinocerebellar ataxia and peripheral neuropathy that has_material_basis_in homozygosity for a mutation in the TDP1 gene on chromosome 14q32.11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16014 |
| Doid Id | DOID_0090115 |
| Label | Spinocerebellar Ataxia With Axonal Neuropathy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Cerebellar Ataxia(ID:disease_node_16008) (Disease)