Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 12
Synonyms

B17.2
ID

http://purl.bioontology.org/ontology/OMIM/614530
altLabel

B17.2

NDUFA12

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY
cui

C1838951

C1826391
Gene Locus

12q22
Gene Symbol

NDUFA12
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/614530.0001
MIMTYPEMEANING

Gene with known sequence
notation

614530
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

NADH-UBIQUINONE OXIDOREDUCTASE 1 ALPHA SUBCOMPLEX, 12
tui

T028

T047
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http://purl.bioontology.org/ontology/MESH/C564021 Medical Subject Headings CUI