Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2

Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/600532

altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 24-KD SUBUNIT

NDUFV2

cui

C4015968

C1838979

C1417653

Gene Locus

18p11.31-p11.2

Gene Symbol

NDUFV2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600532.0002

http://purl.bioontology.org/ontology/OMIM/600532.0001

MIMTYPEMEANING

Gene with known sequence

notation

600532

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NADH-UBIQUINONE OXIDOREDUCTASE FLAVOPROTEIN 2

tui

T028

T033

T047

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http://purl.bioontology.org/ontology/MESH/C537475 Medical Subject Headings CUI