Online Mendelian Inheritance in Man - ENDOTHELIN 3 - Classes

Preferred Name	ENDOTHELIN 3
Synonyms	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL
ID	http://purl.bioontology.org/ontology/OMIM/131242
altLabel	CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL WAARDENBURG SYNDROME, TYPE 4B EDN3 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4 WAARDENBURG SYNDROME TYPE 4B ET3
cui	C3150975 C1414261 C1275808 C2750457
Gene Locus	20q13.2-q13.3
Gene Symbol	HSCR4 EDN3 WS4B
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/131242.0001 http://purl.bioontology.org/ontology/OMIM/131242.0003 http://purl.bioontology.org/ontology/OMIM/131242.0002 http://purl.bioontology.org/ontology/OMIM/131242.0004 http://purl.bioontology.org/ontology/OMIM/131242.0008 http://purl.bioontology.org/ontology/OMIM/131242.0009 http://purl.bioontology.org/ontology/OMIM/131242.0007 http://purl.bioontology.org/ontology/OMIM/131242.0005 http://purl.bioontology.org/ontology/OMIM/131242.0006
MIMTYPEMEANING	Gene with known sequence
notation	131242
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ENDOTHELIN 3
tui	T028 T033 T047

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C536209	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D019334	Medical Subject Headings	LOOM
http://purl.bioontology.org/ontology/MESH/C567680	Medical Subject Headings	CUI
http://purl.obolibrary.org/obo/CHEBI_80243	Chemical Entities of Biological Interest Ontology	LOOM
http://purl.obolibrary.org/obo/PR_000006899	Protein Ontology	LOOM