Online Mendelian Inheritance in Man - CYTOCHROME c OXIDASE III - Classes

Preferred Name	CYTOCHROME c OXIDASE III
Synonyms	MTCO3
ID	http://purl.bioontology.org/ontology/OMIM/516050
altLabel	MTCO3 COIII MITOCHONDRIAL COMPLEX IV DEFICIENCY WITH RECURRENT MYOGLOBINURIA MITOCHONDRIAL COMPLEX IV DEFICIENCY LEBER OPTIC ATROPHY COMPLEX IV, CYTOCHROME c OXIDASE SUBUNIT III SEIZURES AND LACTIC ACIDOSIS
cui	C0268237 C0917796 C1537987 C4017626 C4016603
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/516050.0001 http://purl.bioontology.org/ontology/OMIM/516050.0005 http://purl.bioontology.org/ontology/OMIM/516050.0006 http://purl.bioontology.org/ontology/OMIM/516050.0007 http://purl.bioontology.org/ontology/OMIM/516050.0003 http://purl.bioontology.org/ontology/OMIM/516050.0002 http://purl.bioontology.org/ontology/OMIM/516050.0004
MIMTYPEMEANING	Gene with known sequence
notation	516050
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	CYTOCHROME c OXIDASE III
tui	T028 T019 T033 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D029242	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D030401	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.22	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/LNC/LP57581-8	Logical Observation Identifier Names and Codes	CUI