Summary Literature (0)

DOID:0090115 - spinocerebellar ataxia type 1 with axonal neuropathy

Disease Ontology 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.

Synonyms: SCAN1, autosomal recessive spinocerebellar ataxia with axonal neuropathy,

Echinobase Genes : tdp1


OMIM:

MIM:607250 - spinocerebellar ataxia, autosomal recessive, with axonal neuropathy; scan1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee