Term Name: | Machado-Joseph disease |
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Synonyms: | Azorean disease, MJD, SCA3, spinocerebellar ataxia 3, spinocerebellar ataxia type 3 |
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. |
Ontology: | Human Disease [DOID:1440] ( DOID:1440 ) |