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Summary Literature (0)
DOID:0050954 - spinocerebellar ataxia type 1

Disease Ontology 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.

Synonyms:

Xenbase Genes : atxn1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008119 - spinocerebellar ataxia type 1


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant cerebellar ataxia (is_a)