Search Ontology:
Human Disease
Machado-Joseph disease
- Term ID
- DOID:1440
- Synonyms
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- 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
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- GARD:6801
- MESH:D017827
- MIM:109150
- NCI:C84830
- ORDO:98757
- SNOMEDCT_US_2023_03_01:91952008
- UMLS_CUI:C0024408
- Ontology
- Human Disease ( DOID:1440 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models