Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

COMPLEX I, SUBUNIT ND2

Synonyms

MITOCHONDRIAL COMPLEX I DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/516001

altLabel

MITOCHONDRIAL COMPLEX I DEFICIENCY

NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND2

MTND2

LEBER OPTIC ATROPHY

NADH DEHYDROGENASE, SUBUNIT 2

LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY

cui

C1838979

C1838951

C1537990

C0917796

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/516001.0001

http://purl.bioontology.org/ontology/OMIM/516001.0003

http://purl.bioontology.org/ontology/OMIM/516001.0005

http://purl.bioontology.org/ontology/OMIM/516001.0004

http://purl.bioontology.org/ontology/OMIM/516001.0006

http://purl.bioontology.org/ontology/OMIM/516001.0002

MIMTYPEMEANING

Gene with known sequence

notation

516001

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

COMPLEX I, SUBUNIT ND2

tui

T028

T047

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http://purl.bioontology.org/ontology/MESH/D029242 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C564021 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/MESH/C537475 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.22 International Classification of Diseases, Version 10 - Clinical Modification CUI
http://purl.bioontology.org/ontology/LNC/LP57581-8 Logical Observation Identifier Names and Codes CUI