Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619062 http://purl.bioontology.org/ontology/OMIM/619062
Preferred Name	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18
Synonyms	MC4DN18
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC4DN18
prefLabel	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 18
Gene Symbol	COX6A2 MC4DN18
Scope Statement	Two unrelated Japanese patients have been reported (last curated October 2020) [MISCELLANEOUS] Muscle-specific disorder [MISCELLANEOUS] Patient A had a more severe disorder and died in infancy [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Cytochrome c oxidase, subunit 6A2 gene (COX6A2, 602009.0001) [MOLECULAR BASIS] See more See less
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU072173 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU000653 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU036362 http://purl.bioontology.org/ontology/OMIM/MTHU000990 http://purl.bioontology.org/ontology/OMIM/MTHU072172 http://purl.bioontology.org/ontology/OMIM/MTHU000720 http://purl.bioontology.org/ontology/OMIM/MTHU048348 http://purl.bioontology.org/ontology/OMIM/MTHU000730 See more See less
tui	T047
Gene Locus	16p11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619062
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436720
OMIM Entry Type	3
OMIM MimType Value	pound

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