Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ENDOTHELIN 1
Synonyms	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7
ID	http://purl.bioontology.org/ontology/OMIM/131240
altLabel	HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 7 EDN1 PREPROENDOTHELIN 1 ET1 QUESTION MARK EARS, ISOLATED HDLCQ7 AURICULOCONDYLAR SYNDROME 3
cui	C3810332 C3888126 C1414260 C2748545 C0071923
Gene Locus	6p24-p23
Gene Symbol	EDN1 ARCND3 QME HDLCQ7
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/131240.0002 http://purl.bioontology.org/ontology/OMIM/131240.0003 http://purl.bioontology.org/ontology/OMIM/131240.0004 http://purl.bioontology.org/ontology/OMIM/131240.0005 http://purl.bioontology.org/ontology/OMIM/131240.0001
MIMTYPEMEANING	Gene with known sequence and phenotype
notation	131240
OMIM Entry Type	4
OMIM MimType Value	plus
prefLabel	ENDOTHELIN 1
tui	T028 T190 T116 T033 T047 T123

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Mapping To	Ontology	Source
http://purl.obolibrary.org/obo/CHEBI_80240	Chemical Entities of Biological Interest Ontology	LOOM
http://purl.bioontology.org/ontology/MESH/D019332	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D019332	Medical Subject Headings	LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C1285	National Cancer Institute Thesaurus	LOOM
http://purl.obolibrary.org/obo/PR_000006897	Protein Ontology	LOOM