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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

GARD:10000

ICD10CM:G60.2

OMIM:607250

ORDO:94124

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

is_a autosomal recessive cerebellar ataxia

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