Hereditary Hemorrhagic Telangiectasia

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant hereditary disorder caused by mutations in the ACVRL1, ENG, and SMAD4 genes. It is characterized by the presence of telangiectasias in the skin, mucous membranes, lungs, brain, liver, and gastrointestinal tract. It results in hemorrhages from the affected areas.

**Synonyms:** - Hereditary hemorrhagic telangiectasia - Osler-Weber-Rendu Disease - Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler