Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/618775 http://purl.bioontology.org/ontology/OMIM/618775
Preferred Name	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
Synonyms	MC3DN10
Type	http://www.w3.org/2002/07/owl#Class

altLabel	MC3DN10
prefLabel	MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 10
Gene Symbol	UQCRFS1 MC3DN10
Scope Statement	Two unrelated patients have been reported (last curated February 2020) [MISCELLANEOUS] Onset in utero [MISCELLANEOUS] Caused by mutation in the ubiquinol-cytochrome c reductase, Rieske iron-sulfur gene (UQCRFS1, 191327.0001) [MOLECULAR BASIS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU009766 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU000212 http://purl.bioontology.org/ontology/OMIM/MTHU044587 http://purl.bioontology.org/ontology/OMIM/MTHU000964 http://purl.bioontology.org/ontology/OMIM/MTHU018462 http://purl.bioontology.org/ontology/OMIM/MTHU070848 http://purl.bioontology.org/ontology/OMIM/MTHU038541 http://purl.bioontology.org/ontology/OMIM/MTHU004882 http://purl.bioontology.org/ontology/OMIM/MTHU011896 http://purl.bioontology.org/ontology/OMIM/MTHU036522 http://purl.bioontology.org/ontology/OMIM/MTHU069959 http://purl.bioontology.org/ontology/OMIM/MTHU070849 http://purl.bioontology.org/ontology/OMIM/MTHU000966 See more See less
tui	T047
Gene Locus	19q12
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	618775
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU000016
cui	C5394051
OMIM Entry Type	3
OMIM MimType Value	pound

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