Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

COMPLEX I, SUBUNIT ND4
Synonyms

MTND4
ID

http://purl.bioontology.org/ontology/OMIM/516003
altLabel

MTND4

MELAS SYNDROME

NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4

LEBER OPTIC ATROPHY AND DYSTONIA

LEBER OPTIC ATROPHY

MITOCHONDRIAL COMPLEX I DEFICIENCY

NADH DEHYDROGENASE, SUBUNIT 4
cui

C1839040

C0162671

C1537992

C0917796

C1838979
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/516003.0001

http://purl.bioontology.org/ontology/OMIM/516003.0004

http://purl.bioontology.org/ontology/OMIM/516003.0002

http://purl.bioontology.org/ontology/OMIM/516003.0003
MIMTYPEMEANING

Gene with known sequence
notation

516003
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

COMPLEX I, SUBUNIT ND4
tui

T047

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C536024 MESH CUI
http://purl.bioontology.org/ontology/MDRGER/10067602 MDRGER CUI
http://purl.bioontology.org/ontology/LNC/LP31856-5 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10062951 MDRGER CUI
http://purl.bioontology.org/ontology/RCD/X40U8 RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10053872 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/39925003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/CSP/5000-0048 CRISP CUI
http://purl.bioontology.org/ontology/MESH/D017241 MESH CUI
http://purl.bioontology.org/ontology/RCD/X40U0 RCD CUI
http://purl.bioontology.org/ontology/MDRFRE/10067602 MDRFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-51640 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/39925003 SCTSPA CUI
http://purl.bioontology.org/ontology/MDRFRE/10053872 MDRFRE CUI
http://purl.bioontology.org/ontology/ICD10CM/E88.41 ICD10CM CUI
http://purl.bioontology.org/ontology/MEDDRA/10053872 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10067602 MEDDRA CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003560 NDFRT CUI
http://purl.bioontology.org/ontology/MSHFRE/D017241 MSHFRE CUI
http://purl.bioontology.org/ontology/SNMI/DA-77528 SNMI CUI
http://purl.bioontology.org/ontology/MSHFRE/D029242 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10062951 MDRFRE CUI
http://purl.bioontology.org/ontology/CSP/5000-0048 CRISP CUI
http://purl.bioontology.org/ontology/CSP/2042-6601 CRISP CUI
http://purl.bioontology.org/ontology/ICD10CM/H47.22 ICD10CM CUI
http://purl.bioontology.org/ontology/NDFRT/N0000010951 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/58610003 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D029242 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/58610003 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10062951 MEDDRA CUI
http://purl.bioontology.org/ontology/RCD/F4H16 RCD CUI
http://purl.bioontology.org/ontology/MESH/C537475 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/237988006 SCTSPA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/237988006 SNOMEDCT CUI