| Metadata | |
|---|---|
| ID | DOID:0090115 |
| Name | spinocerebellar ataxia with axonal neuropathy 1 |
| Definition | 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. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=94124 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive spinocerebellar ataxia with axonal neuropathy 1 [EXACT] SCAN1 [EXACT] spinocerebellar ataxia with axonal neuropathy type 1 [EXACT] |
| Parent Relationships |