Skip to main content

Medical Subject Headings (thesaurus)

Search from vocabulary

Concept information

Preferred term

Telangiectasia, Hereditary Hemorrhagic  

Type

  • mesh:Descriptor

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

  • Hereditary Hemorrhagic Telangiectasia
  • Osler-Rendu Disease
  • Osler-Rendu-Weber Disease
  • Osler's Disease
  • Osler-Weber-Rendu Syndrome
  • Rendu-Osler-Weber Disease
  • Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber
  • Weber-Osler Disease
  • Weber-Osler Syndrome

In other languages

URI

http://data.loterre.fr/ark:/67375/JVR-JPG8F6KQ-L

Download this concept:

RDF/XML TURTLE JSON-LD Created 1/1/99, last modified 5/17/19