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Hereditary Hemorrhagic Telangiectasia

^ http://purl.obolibrary.org/obo/NCIT_C35064


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. [ NCI ]

Synonyms: Telangiectasia, Hereditary Hemorrahagic, of Rendu, Osler, Osler-Weber-Rendu Disease, Hereditary Hemorrhagic Telangiectasia

Term info

Legacy Concept Name

Hereditary_Hemorrhagic_Telangiectasia

Preferred Name

Hereditary Hemorrhagic Telangiectasia

Semantic Type

Disease or Syndrome

UMLS CUI

C0039445

code

C35064