Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2

Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/602985

altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

NDUFS2

COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 49-KD SUBUNIT

cui

C1417645

C1838979

Gene Locus

1q23

Gene Symbol

NDUFS2

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/602985.0001

http://purl.bioontology.org/ontology/OMIM/602985.0002

http://purl.bioontology.org/ontology/OMIM/602985.0003

MIMTYPEMEANING

Gene with known sequence

notation

602985

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 2

tui

T028

T047

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