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Concept information

Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Congenital Abnormalities > Cardiovascular Abnormalities > Vascular Malformations > Telangiectasia, Hereditary Hemorrhagic
Cardiovascular Diseases > Cardiovascular Abnormalities > Vascular Malformations > Telangiectasia, Hereditary Hemorrhagic
Cardiovascular Diseases > Vascular Diseases > Hemostatic Disorders > Telangiectasia, Hereditary Hemorrhagic
Hemic and Lymphatic Diseases > Hematologic Diseases > Hemorrhagic Disorders > Hemostatic Disorders > Telangiectasia, Hereditary Hemorrhagic
Cardiovascular Diseases > Vascular Diseases > Telangiectasis > Telangiectasia, Hereditary Hemorrhagic

Terme préférentiel

Telangiectasia, Hereditary Hemorrhagic  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

Concepts associés

Synonyme(s)

  • 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

Qualificatif(s) autorisé(s)

Traductions

URI

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

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RDF/XML TURTLE JSON-LD Date de création 01/01/1999, dernière modification le 17/05/2019