OBO ID: DOID:1440
Term Name: Machado-Joseph disease Search Ontology:
Synonyms:
  • 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:
Ontology: Human Disease   ( DOID:1440 )
Relationships
is a type of:
OTHER Machado-Joseph disease PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ATXN3 Machado-Joseph disease 109150
ZEBRAFISH MODELS
Fish Conditions Citations
mq15Tg; mq17Tg standard conditions (3)
PHENOTYPE No data available

CITATIONS (3)
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.