National Cancer Institute Thesaurus

Last uploaded: February 21, 2019

Preferred Name	Cytochrome-C Oxidase Deficiency
ID	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C98910
code	C98910
Concept_In_Subset	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C90259 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C99147
Contributing_Source	NICHD
DEFINITION	A very rare inherited metabolic disorder characterized by deficiency of the enzyme cytochrome-C oxidase. It may be manifested as an isolated myopathy or a systemic disorder. Signs and symptoms include myotonia, dysfunction of the heart, kidney, and brain, and lactic acidosis.
Has_NICHD_Parent	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3492
label	Cytochrome-C Oxidase Deficiency
NICHD_Hierarchy_Term	Cytochrome-C Oxidase Deficiency
Preferred_Name	Cytochrome-C Oxidase Deficiency
prefixIRI	C98910
prefLabel	Cytochrome-C Oxidase Deficiency
Semantic_Type	Disease or Syndrome
UMLS_CUI	C0268237
subClassOf	http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C53543 http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C34816

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/MTHU039189	Online Mendelian Inheritance in Man	LOOM
	http://purl.bioontology.org/ontology/MESH/D030401	Medical Subject Headings	LOOM