Terminology Service for NFDI4Health
Machado-Joseph disease
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http://purl.obolibrary.org/obo/DOID_1440
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. [ http://purl.obolibrary.org/obo/ECO_0007636 http://purl.obolibrary.org/obo/ECO_0007638 ]
Term info
Label
Machado-Joseph disease
Synonyms
- Azorean disease
- MJD
- SCA3
- spinocerebellar ataxia 3
- spinocerebellar ataxia type 3
Subsets
DO_FlyBase_slim, NCIthesaurus
comment
OMIM mapping confirmed by DO. [SN].
has obo namespace
disease_ontology
id
DOID:1440