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DO Term : pyruvate decarboxylase deficiency [DOID:3649] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.
  • synonyms:
  • GARD:4620,
  • pyruvate dehydrogenase complex deficiency disease,
  • SNOMEDCT_US_2023_03_01:46683007,
  • deficiency of pyruvic dehydrogenase,
  • 245348,
  • 312170,
  • UMLS_CUI:C0034345,
  • ORDO:79243,
  • 614111,
  • OMIM:608782,
  • OMIM:245348,
  • NCI:C103968,
  • MESH:D015325,
  • OMIM:312170,
  • ICD10CM:E74.4,
  • 608782,
  • GARD:7513,
  • OMIM:245349,
  • OMIM:614111,
  • pyruvate dehydrogenase deficiency,
  • 245349
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