| Metadata | |
|---|---|
| ID | DOID:0050882 |
| Name | spinocerebellar ataxia type 5 |
| Definition | An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=98766, https://www.ncbi.nlm.nih.gov/pubmed/20368622 |
| Xrefs | |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Parent Relationships |