Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619058 http://purl.bioontology.org/ontology/OMIM/619058
Preferred Name	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14
Synonyms	MC4DN14
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC4DN14
prefLabel	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 14
Gene Symbol	CCDC56 MC4DN14 COA3
Scope Statement	Onset in early childhood [MISCELLANEOUS] One adult woman has been reported (last curated October 2020) [MISCELLANEOUS] Caused by mutation in the cytochrome c oxidase assembly factor 3 gene (COA3, 614775.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU072166 http://purl.bioontology.org/ontology/OMIM/MTHU072165 http://purl.bioontology.org/ontology/OMIM/MTHU002677 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU006299 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU071633 http://purl.bioontology.org/ontology/OMIM/MTHU000335 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU000145 http://purl.bioontology.org/ontology/OMIM/MTHU000966 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	17q21.31
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619058
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436710
OMIM Entry Type	3
OMIM MimType Value	pound

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