Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/615158 http://purl.bioontology.org/ontology/OMIM/615158
Preferred Name	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
Synonyms	MC3DN3
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC3DN3
prefLabel	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 3
Gene Symbol	MC3DN3 UQCRB UQBP QPC
Scope Statement	Episodic metabolic decompensation, usually associated with illness [MISCELLANEOUS] One Turkish girl has been reported (last curated April 2013) [MISCELLANEOUS] Caused by mutation in the ubiquinol-cytochrome c reductase-protein gene (UQCRB, 191330.0001). [MOLECULAR BASIS] Onset in late infancy [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU002812 http://purl.bioontology.org/ontology/OMIM/MTHU033056 http://purl.bioontology.org/ontology/OMIM/MTHU000371 http://purl.bioontology.org/ontology/OMIM/MTHU036658 http://purl.bioontology.org/ontology/OMIM/MTHU043611 http://purl.bioontology.org/ontology/OMIM/MTHU043610 See more See less
tui	T047
Gene Locus	8q22
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	615158
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C3554606
OMIM Entry Type	3
OMIM MimType Value	pound

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