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Summary Literature (0)
DOID:1440 - Machado-Joseph disease

Disease Ontology Definition:An autosomal dominant cerebellar ataxia that is characterized by slow degeneration of the hindbrain and has_material_basis_in expansion of CAG triplet repeats (glutamine) in the ATXN3 gene.

Synonyms: Azorean disease, MJD, spinocerebellar ataxia 3, SCA3, spinocerebellar ataxia type 3

Xenbase Genes : atxn3

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0007182 - muscle layer of infundibulum of uterine tube

MIM:
MIM:109150 - MACHADO-JOSEPH DISEASE; MJD

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

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