Machado-Joseph disease (Q3026441)

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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
  • Azorean disease (disorder)
  • MJD
  • spinocerebellar ataxia type 3
  • spinocerebellar ataxia 3
  • Azorean disease
  • Nigrospinodentatal Degeneration
  • MACHADO-JOSEPH DISEASE; MJD
  • Autosomal dominant striatonigral degeneration
  • Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
  • Spinopontine Atrophy
  • Spinocerebellar Atrophy 3
  • Machado disease
  • Azorean Neurologic Disease
  • Azorean disease of the nervous system
  • SCA3
  • MACHADO-JOSEPH DISEASE
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Language Label Description Also known as
English
Machado-Joseph disease
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
  • Azorean disease (disorder)
  • MJD
  • spinocerebellar ataxia type 3
  • spinocerebellar ataxia 3
  • Azorean disease
  • Nigrospinodentatal Degeneration
  • MACHADO-JOSEPH DISEASE; MJD
  • Autosomal dominant striatonigral degeneration
  • Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia
  • Spinopontine Atrophy
  • Spinocerebellar Atrophy 3
  • Machado disease
  • Azorean Neurologic Disease
  • Azorean disease of the nervous system
  • SCA3
  • MACHADO-JOSEPH DISEASE

Statements

Identifiers

KEGG ID
H01478
0 references
DeCS ID
31322
0 references
GARD rare disease ID
6801
0 references
Mondo ID
MONDO_0007182
0 references
 
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