| Metadata | |
|---|---|
| ID | DOID:0111170 |
| Name | autosomal dominant sensory ataxia 1 |
| 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 |
| Xrefs | |
| Synonyms |
ADSA [EXACT] SNAX1 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a hereditary ataxia |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |