About: Pyruvate Dehydrogenase Complex Deficiency Disease     Goto   Sponge   Distinct   Permalink

An Entity of Type : http://linked.opendata.cz/ontology/ndfrt/DiseaseOrFinding, within Data Space : linked.opendata.cz associated with source document(s)

AttributesValues
rdf:type
Title
  • Pyruvate Dehydrogenase Complex Deficiency Disease (en)
skos:broader
skos:prefLabel
  • Pyruvate Dehydrogenase Complex Deficiency Disease (en)
adms:identifier
http://linked.open...gy/ndfrt/UMLS_CUI
  • C0034345
skos:altLabel
  • Ataxia, Intermittent, with Abnormal Pyruvate Metabolism (en)
  • PDH Deficiency (en)
  • PDHC Deficiency Disease (en)
  • Pyruvate Decarboxylase Deficiency (en)
  • Pyruvate Dehydrogenase Complex Deficiency (en)
  • Pyruvate Dehydrogenase Deficiency (en)
  • Ataxia, Intermittent, with Pyruvate Dehydrogenase, or Decarboxylase, Deficiency (en)
  • Intermittent Ataxia with Pyruvate Dehydrogenase Deficiency (en)
  • PDHC Deficiency (en)
http://linked.open.../ndfrt/SNOMED_CID
  • 46683007
http://linked.open...gy/ndfrt/MeSH_DUI
  • D015325
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