Medical terminology · Cardiology
Telangiectasia, Hereditary Hemorrhagic
MeSH — National Library of Medicine · Retrieved 2026-10-13
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.
Reference details
- MeSH descriptor
- D013683
- Vocabulary edition
- 2026
- Tree positions
- C14.907.454.900; C14.907.823.780; C15.378.463.515.900; C16.131.240.850.968
Scope and definition
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.
Entry terms and synonyms
Telangiectasia, Hereditary Hemorrhagic
Hemorrhagic Telangiectasia, Hereditary
Weber-Osler Disease
Weber Osler Disease
Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
Rendu-Osler-Weber Disease
Rendu Osler Weber Disease
Osler-Rendu-Weber Disease
Osler Rendu Weber Disease
Hereditary Hemorrhagic Telangiectasia
Osler's Disease
Osler Disease
Weber-Osler Syndrome
Weber Osler Syndrome
Osler-Rendu Disease
Osler Rendu Disease
Osler-Weber-Rendu Syndrome
Osler Weber Rendu Syndrome
Telangiectasia, Hereditary Hemorrhagic, Type 1
Classification tree positions
C14.907.454.900
C14.907.823.780
C15.378.463.515.900
C16.131.240.850.968
Sources and reuse
Medical vocabulary definition and classification record.
Retrieved: 2026-10-13. Text has been organized for reading; this import has not been independently reviewed by a clinician. It is not individualized medical advice.
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