Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618952 http://purl.bioontology.org/ontology/OMIM/618952
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46
Synonyms	COXPD46
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD46
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 46
Gene Symbol	MRPS23 COXPD46
Scope Statement	One patient has been reported (last curated July, 2020) [MISCELLANEOUS] Clinical details were limited [MISCELLANEOUS] Caused by mutation in the mitochondrial ribosomal protein S23 gene (MRPS23, 611985.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU071920 http://purl.bioontology.org/ontology/OMIM/MTHU071919
tui	T047
Gene Locus	17q22-q23
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618952
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436466
OMIM Entry Type	3
OMIM MimType Value	pound

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