About: Pyruvate Carboxylase Deficiency     Goto   Sponge   NotDistinct   Permalink

An Entity of Type : owl:Class, within Data Space : linked.opendata.cz:8890 associated with source document(s)

AttributesValues
rdf:type
rdfs:label
  • Pyruvate Carboxylase Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • Pyruvate Carboxylase Deficiency
UMLS_CUI
  • C0034341
Contributing_Source
  • NICHD
FULL_SYN
  • Pyruvate Carboxylase DeficiencyPTNICHD
  • Pyruvate Carboxylase Deficiency DiseaseSYNCI
  • Pyruvate Carboxylase DeficiencyPTNCI
DEFINITION
  • A rare autosomal recessive inherited metabolic disorder caused by mutations in the PC gene. It results in the accumulation of lactic acid and other toxic substances in the blood. Signs and symptoms appear early in life and include failure to thrive, mental and growth retardation, motor disturbances, seizures, and lactic acidosis.NCI
code
  • C85040
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