Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/616045 http://purl.bioontology.org/ontology/OMIM/616045
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
Synonyms	COXPD22
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD22
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22
Gene Symbol	ORM ATP5F1A COXPD22 ATP5A1 ATP5A ATPM MC5DN4B MC5DN4A See more See less
Scope Statement	Onset at birth [MISCELLANEOUS] Caused by mutation in the ATP synthase F1, alpha subunit gene (ATP5F1A, 164360.0002) [MOLECULAR BASIS] Two sisters, born of consanguineous Moroccan parents, have been reported (last curated October 2014) [MISCELLANEOUS] Death in the first years of life [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009766 http://purl.bioontology.org/ontology/OMIM/MTHU009472 http://purl.bioontology.org/ontology/OMIM/MTHU047691 http://purl.bioontology.org/ontology/OMIM/MTHU002225 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU027648 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU003333 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	18q21.1
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	616045
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C4015062
OMIM Entry Type	3
OMIM MimType Value	pound

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