Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618851 http://purl.bioontology.org/ontology/OMIM/618851
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
Synonyms	COXPD43
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD43
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 43
Gene Symbol	COXPD43 TIM22 TIMM22
Scope Statement	Caused by mutation in the translocase of inner mitochondrial membrane 22gene (TIMM22, 607251.0001) [MOLECULAR BASIS] Onset at birth [MISCELLANEOUS] One patient has been reported (last curated April 2020) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000660 http://purl.bioontology.org/ontology/OMIM/MTHU003653 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU059540 http://purl.bioontology.org/ontology/OMIM/MTHU071094 http://purl.bioontology.org/ontology/OMIM/MTHU002522 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU066317 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU001721 http://purl.bioontology.org/ontology/OMIM/MTHU038981 See more See less
tui	T047
Gene Locus	17p13.3
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618851
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5394284
OMIM Entry Type	3
OMIM MimType Value	pound

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