autosomal dominant sensory ataxia 1

Summary

DOID:0111170 - autosomal dominant sensory ataxia 1

Disease Ontology Definition:A hereditary ataxia characterized by gait difficulty and instability especially in dark conditions resulting from sensory loss in the extremities and without cerebellar involvement that has_material_basis_in heterozygous mutations in the RNF170 gene on chromosome 8.

Synonyms: ADSA, SNAX1,

Echinobase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

OMIM:

MIM:608984 - ataxia, sensory, 1, autosomal dominant; snax1

MIM:608984 - ataxia, sensory, 1, autosomal dominant; snax1

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

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

Parent(s): autosomal dominant disease (is_a), hereditary ataxia (is_a)