Online Mendelian Inheritance in Man - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618378 http://purl.bioontology.org/ontology/OMIM/618378
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
Synonyms	COXPD38
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD38
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 38
Gene Symbol	COXPD38 MRPS14
Scope Statement	One patient has been reported (last curated April 2019) [MISCELLANEOUS] Caused by mutation in the mitochondrial ribosomal protein S14 gene (MRPS14, 611978.0001) [MOLECULAR BASIS] Prenatal onset [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU064467 http://purl.bioontology.org/ontology/OMIM/MTHU008478 http://purl.bioontology.org/ontology/OMIM/MTHU000263 http://purl.bioontology.org/ontology/OMIM/MTHU064469 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU046199 http://purl.bioontology.org/ontology/OMIM/MTHU064468 http://purl.bioontology.org/ontology/OMIM/MTHU061712 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU047943 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU000749 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU023217 http://purl.bioontology.org/ontology/OMIM/MTHU064466 http://purl.bioontology.org/ontology/OMIM/MTHU003860 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU038981 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU001746 http://purl.bioontology.org/ontology/OMIM/MTHU000730 See more See less
tui	T047
Gene Locus	1q23-q25
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618378
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5193064
OMIM Entry Type	3
OMIM MimType Value	pound

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