Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/619012 http://purl.bioontology.org/ontology/OMIM/619012
Preferred Name	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48
Synonyms	COXPD48
Type	http://www.w3.org/2002/07/owl#Class

altLabel	COXPD48
prefLabel	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 48
Gene Symbol	NSUN3 COXPD48
Scope Statement	Two unrelated patients have been reported (last curated September 2020) [MISCELLANEOUS] Onset in infancy [MISCELLANEOUS] Caused by mutation in the NOP2/SUN RNA methyltransferase family, member 3 gene (NSUN3, 617491.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU075064 http://purl.bioontology.org/ontology/OMIM/MTHU036340 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU024766 http://purl.bioontology.org/ontology/OMIM/MTHU075063 http://purl.bioontology.org/ontology/OMIM/MTHU036444 http://purl.bioontology.org/ontology/OMIM/MTHU036657 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU003333 http://purl.bioontology.org/ontology/OMIM/MTHU000081 http://purl.bioontology.org/ontology/OMIM/MTHU015980 http://purl.bioontology.org/ontology/OMIM/MTHU066784 http://purl.bioontology.org/ontology/OMIM/MTHU075062 http://purl.bioontology.org/ontology/OMIM/MTHU000242 See more See less
tui	T047
Gene Locus	3q11.2
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	619012
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5436602
OMIM Entry Type	3
OMIM MimType Value	pound

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