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Disease Telangiectasia, Hereditary Hemorrhagic

Name Telangiectasia, Hereditary Hemorrhagic
Synonyms Disease, Osler's | Hemorrhagic Telangiectasia, Hereditary | Hereditary Hemorrhagic Telangiectasia | HHT | HHT1, INCLUDED | ORW DISEASE TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1, INCLUDED | Osler Disease | Osler Rendu Disease | Osler-Rendu Disease | Osler Rendu Weber Disease | Osler-Rendu-Weber Disease | Osler's Disease | Osler Weber Rendu Syndrome | Osler-Weber-Rendu Syndrome | Rendu Osler Weber | Rendu-Osler-Weber | Telangiectasia, Hereditary Hemorrhagic, of Rendu, Osler, and Weber | Telangiectasia, Hereditary Hemorrhagic, Type 1 | Weber Osler | Weber-Osler
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.
Categories Blood disease | Cardiovascular disease | Congenital abnormality
MeSH® ID D013683
OMIM® ID 187300
External Links

Top ↑ Ancestors

1. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Vascular Diseases Has associated chemicals Has associated genes Has associated exposure references Hemostatic Disorders Has associated chemicals Has associated genes Has associated exposure references Telangiectasia, Hereditary Hemorrhagic Has associated chemicals Has associated genes
2. DiseasesCardiovascular Diseases Has associated chemicals Has associated genes Has associated exposure references Vascular Diseases Has associated chemicals Has associated genes Has associated exposure references Telangiectasis Has associated chemicals Has associated genes Telangiectasia, Hereditary Hemorrhagic Has associated chemicals Has associated genes
3. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Hemorrhagic Disorders Has associated chemicals Has associated genes Has associated exposure references Hemostatic Disorders Has associated chemicals Has associated genes Has associated exposure references Telangiectasia, Hereditary Hemorrhagic Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Congenital Abnormalities Has associated chemicals Has associated genes Has associated exposure references Cardiovascular Abnormalities Has associated chemicals Has associated genes Has associated exposure references Vascular Malformations Has associated chemicals Has associated genes Telangiectasia, Hereditary Hemorrhagic Has associated chemicals Has associated genes

Top ↑ Descendants

Telangiectasia, Hereditary Hemorrhagic Has associated chemicals Has associated genes
  Juvenile Polyposis with Hereditary Hemorrhagic Telangiectasia Has associated chemicals Has associated genes
  Osler-rendu-weber syndrome 2 Has associated chemicals Has associated genes
  Osler-rendu-weber syndrome 3
  Telangiectasia, Hereditary Hemorrhagic, Type 4