About: NADH Dehydrogenase Deficiency     Goto   Sponge   NotDistinct   Permalink

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

AttributesValues
rdf:type
rdfs:label
  • NADH Dehydrogenase Deficiency
rdfs:subClassOf
Has_NICHD_Parent
Concept_In_Subset
Semantic_Type
  • Disease or Syndrome
Preferred_Name
  • NADH Dehydrogenase Deficiency
UMLS_CUI
  • C1291288
Contributing_Source
  • NICHD
FULL_SYN
  • NADH Dehydrogenase (Ubiquinon) DeficiencyPTNICHD
  • NADH Dehydrogenase DeficiencyPTNCI
DEFINITION
  • A rare metabolic disorder characterized by the deficiency of mitochondrial NADH dehydrogenase component of complex I. Signs and symptoms include cardiomyopathy, encephalopathy, enlarged head, and progressive leukodystrophy.NCI
code
  • C98994
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