Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	COMPLEX I, SUBUNIT ND4
Synonyms	MITOCHONDRIAL COMPLEX I DEFICIENCY
ID	http://purl.bioontology.org/ontology/OMIM/516003
altLabel	MITOCHONDRIAL COMPLEX I DEFICIENCY MTND4 LEBER OPTIC ATROPHY AND DYSTONIA MELAS SYNDROME NADH-UBIQUINONE OXIDOREDUCTASE, SUBUNIT ND4 LEBER OPTIC ATROPHY NADH DEHYDROGENASE, SUBUNIT 4
cui	C1838979 C1537992 C0162671 C0917796 C1839040
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/516003.0002 http://purl.bioontology.org/ontology/OMIM/516003.0003 http://purl.bioontology.org/ontology/OMIM/516003.0004 http://purl.bioontology.org/ontology/OMIM/516003.0001
MIMTYPEMEANING	Gene with known sequence
notation	516003
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	COMPLEX I, SUBUNIT ND4
tui	T028 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/D029242	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP31856-5	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/ICD10CM/E88.41	International Classification of Diseases, Version 10 - Clinical Modification	CUI
http://purl.bioontology.org/ontology/MESH/D017241	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/MESH/C536024	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP57581-8	Logical Observation Identifier Names and Codes	CUI