Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
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Preferred Name

NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 5
Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY
ID

http://purl.bioontology.org/ontology/OMIM/612360
altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

CHROMOSOME 20 OPEN READING FRAME 7

C20ORF7

NDUFAF5

LEIGH SYNDROME
cui

C0023264

C1423817

C1838979
Gene Locus

20p12.1
Gene Symbol

NDUFAF5

C20orf7
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/612360.0001

http://purl.bioontology.org/ontology/OMIM/612360.0002

http://purl.bioontology.org/ontology/OMIM/612360.0003
MIMTYPEMEANING

Gene with known sequence
notation

612360
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 5
tui

T028

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10CM/G31.82 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/MESH/D007888 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537475 Medical Subject Headings CUI