| Metadata | |
|---|---|
| ID | 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 |
SNOMEDCT_US_2023_03_01:91952008 |
| Subsets |
DO_FlyBase_slim NCIthesaurus |
| Synonyms |
Azorean disease [EXACT] MJD [EXACT] SCA3 [EXACT] spinocerebellar ataxia 3 [EXACT] spinocerebellar ataxia type 3 [EXACT] |
| Parent Relationships |