ZFIN Human Disease: autosomal dominant sensory ataxia 1

OBO ID: DOID:0111170

Term Name:	autosomal dominant sensory ataxia 1		Search Ontology:
Synonyms:	ADSA SNAX1
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. https://www.ncbi.nlm.nih.gov/pubmed/15286160
References:	OMIM:608984
Ontology:	Human Disease ( DOID:0111170 )

Relationships

is a type of:	autosomal dominant disease hereditary ataxia autosomal dominant disease hereditary ataxia Show first 5 Terms

OTHER autosomal dominant sensory ataxia 1 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RNF170	rnf170	Ataxia, sensory, 1, autosomal dominant	608984

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None