Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/615159
http://purl.bioontology.org/ontology/OMIM/615159
Preferred Name

MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
Synonyms
MC3DN4
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MC3DN4
prefLabel
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 4
Gene Symbol
UQCRQ
QPC
MC3DN4
Scope Statement
One large consanguineous Israeli Bedouin kindred has been reported (last curated April 2013) [MISCELLANEOUS]
Onset in the first month of life [MISCELLANEOUS]
Caused by mutation in the ubiquinol-cytochrome c reductase-protein complex III subunit VII gene (UQCRQ, 612080.0001) [MOLECULAR BASIS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU003843
http://purl.bioontology.org/ontology/OMIM/MTHU000691
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU036517
http://purl.bioontology.org/ontology/OMIM/MTHU043616
http://purl.bioontology.org/ontology/OMIM/MTHU000964
http://purl.bioontology.org/ontology/OMIM/MTHU021880
http://purl.bioontology.org/ontology/OMIM/MTHU036384
http://purl.bioontology.org/ontology/OMIM/MTHU008360
http://purl.bioontology.org/ontology/OMIM/MTHU037628
http://purl.bioontology.org/ontology/OMIM/MTHU021496
http://purl.bioontology.org/ontology/OMIM/MTHU036349
http://purl.bioontology.org/ontology/OMIM/MTHU000140
http://purl.bioontology.org/ontology/OMIM/MTHU043604
http://purl.bioontology.org/ontology/OMIM/MTHU002752
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tui
T047
Gene Locus
5q31.1
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
615159
Semantic type UMLS property
Has inheritance type
cui
C3554607
OMIM Entry Type
3
OMIM MimType Value
pound
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