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MIRAGE
Machado-Joseph disease

Summary
Synonym
  • 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.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:1440
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
4287 ATXN3 ataxin 3
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
P54252 Ataxin-3
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 8, 2025