Search Ontology:
Human Disease

autosomal dominant sensory ataxia 1

Term ID
DOID:0111170
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
Ontology
Human Disease   ( DOID:0111170 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models