About: Machado-Joseph disease     Goto   Sponge   NotDistinct   Permalink

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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

AttributesValues
rdf:type
owl:sameAs
description
  • Krankheit (de)
  • хвороба (uk)
  • systémová atrofie postihující primárně centrální nervovou soustavu (cs)
  • joseph machado (nl)
  • 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 (en)
exact match
exact match
health specialty
ICD-10
Mondo ID
DiseasesDB
Disease Ontology ID
Mondo ID
Disease Ontology ID
health specialty
ICD-10
  • G11.1
Mondo ID
  • MONDO_0007182
DiseasesDB
  • 31961
Disease Ontology ID
  • DOID:1440
rdfs:label
  • Machado-Joseph disease (en)
  • Machado-Josephova bolest (bs)
  • Machado-Josephs sjukdom (sv)
  • Machado-Joseph病 (ja)
  • doença de Machado-Joseph (pt)
  • enfemedad de Machado-Joseph (es)
  • maladie de Machado-Joseph (fr)
  • malaltia de Machado-Joseph (ca)
  • malsano de Machado-Joseph (eo)
  • מחלת מג'דו ג'וזף (he)
  • مرض ماتشادو جوزيف (ar)
  • 馬查多-約瑟夫病 (zh-hant)
  • 马查多-约瑟夫病 (zh)
  • 马查多-约瑟夫病 (zh-cn)
  • 马查多-约瑟夫病 (zh-hans)
skos:prefLabel
  • Machado-Joseph disease (en)
  • Machado-Josephova bolest (bs)
  • Machado-Josephs sjukdom (sv)
  • Machado-Joseph病 (ja)
  • doença de Machado-Joseph (pt)
  • enfemedad de Machado-Joseph (es)
  • maladie de Machado-Joseph (fr)
  • malaltia de Machado-Joseph (ca)
  • malsano de Machado-Joseph (eo)
  • מחלת מג'דו ג'וזף (he)
  • مرض ماتشادو جوزيف (ar)
  • 馬查多-約瑟夫病 (zh-hant)
  • 马查多-约瑟夫病 (zh)
  • 马查多-约瑟夫病 (zh-cn)
  • 马查多-约瑟夫病 (zh-hans)
name
  • Machado-Joseph disease (en)
  • Machado-Josephova bolest (bs)
  • Machado-Josephs sjukdom (sv)
  • Machado-Joseph病 (ja)
  • doença de Machado-Joseph (pt)
  • enfemedad de Machado-Joseph (es)
  • maladie de Machado-Joseph (fr)
  • malaltia de Machado-Joseph (ca)
  • malsano de Machado-Joseph (eo)
  • מחלת מג'דו ג'וזף (he)
  • مرض ماتشادو جوزيف (ar)
  • 馬查多-約瑟夫病 (zh-hant)
  • 马查多-约瑟夫病 (zh)
  • 马查多-约瑟夫病 (zh-cn)
  • 马查多-约瑟夫病 (zh-hans)
MalaCards ID
MalaCards ID
  • machado_joseph_disease
Freebase ID
Freebase ID
  • /m/07656h
instance of
instance of
subclass of
subclass of
KEGG ID
KEGG ID
KEGG ID
  • H01478
GPnotebook ID
GPnotebook ID
  • -234487767
UniProt disease ID
Orphanet ID
ICD-9-CM
genetic association
ICD-10-CM
GARD rare disease ID
OMIM ID
Genetics Home Reference Conditions ID
UniProt disease ID
  • DI-01068
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