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,

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

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

: rnf170

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0012166 - autosomal dominant sensory ataxia 1

MONDO:0012166 - autosomal dominant sensory ataxia 1

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

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

Parent(s): hereditary ataxia (is_a)