Visualize Submit Comment

Metadata
ID	DOID:0050954
Name	spinocerebellar ataxia type 1
Definition	An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1
Xrefs	GARD:4071 MIM:164400
Subsets	DO_rare_slim
Parent Relationships	is_a autosomal dominant cerebellar ataxia
Subclass Logical Relationships	has material basis in some trinucleotide_repeat_expansion