Disease_Has_Finding Disease_Mapped_To_Gene GDC Terminology Comorbidity Cellosaurus Disease Terminology Risk Factor GDC Value Terminology SMAD4 Gene mCode Terminology mCode Elixhauser Peripheral Vascular Disease Value Set ACVRL1 Gene Telangiectasia ENG Gene Genetic Disorder Hereditary Hemorrhagic Telangiectasia Hereditary hemorrhagic telangiectasia Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler mCode Cellosaurus Hereditary Hemorrhagic Telangiectasia C0039445 C35064 Disease or Syndrome Hereditary Hemorrhagic Telangiectasia GDC Hereditary Hemorrhagic Telangiectasia Osler-Weber-Rendu Disease 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. Hereditary_Hemorrhagic_Telangiectasia Hereditary Lesion