Online Mendelian Inheritance in Man - COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618951 http://purl.bioontology.org/ontology/OMIM/618951
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
Synonyms	COXPD45
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD45
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 45
Gene Symbol	MRPL12 RPML12
Scope Statement	Caused by mutation in the mitochondrial ribosomal protein L12 gene (MRPL12, 602375.0001) [MOLECULAR BASIS] One consanguineous Roma Gypsy family has been reported (last curated July, 2020) [MISCELLANEOUS] Onset in utero [MISCELLANEOUS] Early death (in some patients) [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU071914 http://purl.bioontology.org/ontology/OMIM/MTHU005726 http://purl.bioontology.org/ontology/OMIM/MTHU071916 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU071917 http://purl.bioontology.org/ontology/OMIM/MTHU000514 http://purl.bioontology.org/ontology/OMIM/MTHU033932 http://purl.bioontology.org/ontology/OMIM/MTHU000512 http://purl.bioontology.org/ontology/OMIM/MTHU036357 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU001772 http://purl.bioontology.org/ontology/OMIM/MTHU000926 http://purl.bioontology.org/ontology/OMIM/MTHU071915 http://purl.bioontology.org/ontology/OMIM/MTHU001305 http://purl.bioontology.org/ontology/OMIM/MTHU005669 http://purl.bioontology.org/ontology/OMIM/MTHU062316 http://purl.bioontology.org/ontology/OMIM/MTHU071918 http://purl.bioontology.org/ontology/OMIM/MTHU040197 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/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU000242 http://purl.bioontology.org/ontology/OMIM/MTHU000094 See more See less
tui	T047
Gene Locus	17q25-qter
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618951
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436461
OMIM Entry Type	3
OMIM MimType Value	pound

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