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Disease Ontology Browser
spinocerebellar ataxia with axonal neuropathy 1 (DOID:0090115)
Alliance: disease page
Synonyms: autosomal recessive spinocerebellar ataxia with axonal neuropathy 1; SCAN1; spinocerebellar ataxia with axonal neuropathy type 1
Alt IDs: OMIM:607250, ICD10CM:G60.2, ORDO:94124
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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12/10/2024
MGI 6.24 		The Jackson Laboratory