Term Name: Machado-Joseph disease
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 )

Relationships
is a type of: autosomal dominant cerebellar ataxia