Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 3

Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/612911

altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

NDUFAF3

NADH DEHYDROGENASE 1 ALPHA SUBCOMPLEX, ASSEMBLY FACTOR 3

cui

C1838979

C1824156

Gene Locus

3p21.31

Gene Symbol

NDUFAF3

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/612911.0002

http://purl.bioontology.org/ontology/OMIM/612911.0003

http://purl.bioontology.org/ontology/OMIM/612911.0001

MIMTYPEMEANING

Gene with known sequence

notation

612911

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 3

tui

T028

T047

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