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Summary Literature (0)
DOID:0050977 - spinocerebellar ataxia type 28

Disease Ontology Definition:An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene.

Synonyms:

Xenbase Genes : afg3l2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012450 - spinocerebellar ataxia type 28


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)