Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026
Id http://purl.bioontology.org/ontology/OMIM/618229
http://purl.bioontology.org/ontology/OMIM/618229
Preferred Name

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
Synonyms
MC1DN7
Type http://www.w3.org/2002/07/owl#Class

All Properties

altLabel
MC1DN7
prefLabel
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 7
Gene Symbol
MC1DN7
NDUFV2
Scope Statement
Caused by mutation in the NADH-ubiquinone oxidoreductase flavoprotein 2 gene (NDUFV2, 600532.0002) [MOLECULAR BASIS]
Early death may occur [MISCELLANEOUS]
Onset in infancy [MISCELLANEOUS]
Variable features [MISCELLANEOUS]
type
Has manifestation
http://purl.bioontology.org/ontology/OMIM/MTHU000300
http://purl.bioontology.org/ontology/OMIM/MTHU036340
http://purl.bioontology.org/ontology/OMIM/MTHU037344
http://purl.bioontology.org/ontology/OMIM/MTHU000197
http://purl.bioontology.org/ontology/OMIM/MTHU036657
http://purl.bioontology.org/ontology/OMIM/MTHU062958
http://purl.bioontology.org/ontology/OMIM/MTHU005283
http://purl.bioontology.org/ontology/OMIM/MTHU062956
http://purl.bioontology.org/ontology/OMIM/MTHU001319
http://purl.bioontology.org/ontology/OMIM/MTHU036522
http://purl.bioontology.org/ontology/OMIM/MTHU022795
http://purl.bioontology.org/ontology/OMIM/MTHU003333
http://purl.bioontology.org/ontology/OMIM/MTHU036360
http://purl.bioontology.org/ontology/OMIM/MTHU062959
http://purl.bioontology.org/ontology/OMIM/MTHU000081
http://purl.bioontology.org/ontology/OMIM/MTHU061503
http://purl.bioontology.org/ontology/OMIM/MTHU010994
http://purl.bioontology.org/ontology/OMIM/MTHU062957
http://purl.bioontology.org/ontology/OMIM/MTHU000235
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tui
T047
Gene Locus
18p11.31-p11.2
MIMTYPEMEANING
Phenotype description, molecular basis known.
notation
618229
Semantic type UMLS property
Has inheritance type
cui
C4748760
OMIM Entry Type
3
OMIM MimType Value
pound
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