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DOID:0050978 - spinocerebellar ataxia type 29
Disease Ontology Definition:An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.
Synonyms:
Xenbase Genes : itpr1
MONDO:0007298 - spinocerebellar ataxia type 29 |
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)