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Metadata
DOID DOID:1440
Name Machado-Joseph disease
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.
http://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease, http://omim.org/entry/109150, http://rarediseases.org/rare-disease-information/rare-diseases/byID/110/viewAbstract
Xrefs

MESH:D017827

NCI:C84830

OMIM:109150

SNOMEDCT_US_2018_03_01:91952008

UMLS_CUI:C0024408

Subsets

DO_FlyBase_slim

NCIthesaurus

Synonyms

Azorean disease [EXACT]

MJD [EXACT]

spinocerebellar ataxia 3 [EXACT]

spinocerebellar ataxia type 3 [EXACT]

Relationships

is_a autosomal dominant cerebellar ataxia

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