Search Ontology:
Human Disease

Machado-Joseph disease

Term ID
DOID:1440
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. (3)
References
Ontology
Human Disease   ( DOID:1440 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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