Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3

Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/603846

altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

NDUFS3

COMPLEX I, MITOCHONDRIAL RESPIRATORY CHAIN, 30-KD SUBUNIT

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY

cui

C1838979

C1838951

C1417646

Gene Locus

11p11.11

Gene Symbol

NDUFS3

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/603846.0002

http://purl.bioontology.org/ontology/OMIM/603846.0001

MIMTYPEMEANING

Gene with known sequence

notation

603846

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

NADH-UBIQUINONE OXIDOREDUCTASE Fe-S PROTEIN 3

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C564021 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537475 Medical Subject Headings CUI