OntologiesdoidclassesDOID:0050954   
spinocerebellar ataxia type 1
http://purl.obolibrary.org/obo/DOID_0050954

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.

    class Information
    created_by

    lschriml

    creation_date

    2015-10-05T16:07:27Z

    has_obo_namespace

    disease_ontology

    in_subset

    DO_rare_slim

    class Relations