- Concept UI
- M0021123
- Scope Note
- An autosomal dominant vascular anomaly characterized by telangiectases of the skin and mucous membranes and by recurrent gastrointestinal bleeding. This disorder is caused by mutations of a gene (on chromosome 9q3) which encodes endoglin, a membrane glycoprotein that binds TRANSFORMING GROWTH FACTOR BETA.
- Terms
-
Telangiectasia, Hereditary Hemorrhagic
Preferred Term
Term UI
T040224
Date01/01/1999
LexicalTag
NON
ThesaurusID
-
Weber-Osler Disease
Term UI
T000956381
Date04/30/2019
LexicalTag
EPO
ThesaurusID
NLM (2020)
-
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
Term UI
T781718
Date12/06/2010
LexicalTag
EPO
ThesaurusID
-
Rendu-Osler-Weber Disease
Term UI
T000956382
Date04/30/2019
LexicalTag
EPO
ThesaurusID
NLM (2020)
-
Osler-Rendu-Weber Disease
Term UI
T680057
Date08/23/2006
LexicalTag
EPO
ThesaurusID
-
Hereditary Hemorrhagic Telangiectasia
Term UI
T841598
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Osler's Disease
Term UI
T841599
Date04/18/2013
LexicalTag
EPO
ThesaurusID
GHR (2014)
-
Weber-Osler Syndrome
Term UI
T000956383
Date04/30/2019
LexicalTag
EPO
ThesaurusID
NLM (2020)
-
Osler-Rendu Disease
Term UI
T040223
Date03/30/1974
LexicalTag
EPO
ThesaurusID
-
Osler-Weber-Rendu Syndrome
Term UI
T752650
Date06/11/2009
LexicalTag
EPO
ThesaurusID