Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	ENDOGLIN
Synonyms	HEREDITARY HEMORRHAGIC TELANGIECTASIA 1
ID	http://purl.bioontology.org/ontology/OMIM/131195
altLabel	HEREDITARY HEMORRHAGIC TELANGIECTASIA 1 CD105 ENG
cui	C1366583 C4225631
Gene Locus	9q34.1
Gene Symbol	END HHT1 ORW ENG
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/131195.0001 http://purl.bioontology.org/ontology/OMIM/131195.0006 http://purl.bioontology.org/ontology/OMIM/131195.0002 http://purl.bioontology.org/ontology/OMIM/131195.0007 http://purl.bioontology.org/ontology/OMIM/131195.0008 http://purl.bioontology.org/ontology/OMIM/131195.0005 http://purl.bioontology.org/ontology/OMIM/131195.0003 http://purl.bioontology.org/ontology/OMIM/131195.0009 http://purl.bioontology.org/ontology/OMIM/131195.0004
MIMTYPEMEANING	Gene with known sequence
notation	131195
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	ENDOGLIN
tui	T028 T047

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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17406	National Cancer Institute Thesaurus	LOOM
http://purl.bioontology.org/ontology/LNC/LP71479-7	Logical Observation Identifier Names and Codes	CUI
http://purl.obolibrary.org/obo/PR_000001345	Phenotypic Quality Ontology	LOOM
http://purl.obolibrary.org/obo/PR_000001345	Cell Ontology	LOOM
http://purl.obolibrary.org/obo/PR_000001345	Protein Ontology	LOOM
http://purl.obolibrary.org/obo/PR_000001345	Cell Line Ontology Subset for Chinese National Infrastructure of Cell Line Resource (NICR)	LOOM
http://purl.bioontology.org/ontology/MESH/D000071063	Medical Subject Headings	LOOM