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Summary Literature (0)
DOID:1270 - hereditary hemorrhagic telangiectasia


Disease Ontology Definition:A vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins.

Synonyms: Osler hemorrhagic telangiectasia syndrome, Osler-Weber-Rendu disease, Rendu-Osler-Weber disease

In OMIM:
OMIM:187300 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1
OMIM:600376 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 2; HHT2
OMIM:601101 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 3; HHT3
OMIM:615506 - TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 5; HHT5

In Mondo Disease Ontology:
MONDO:0019180 - hereditary hemorrhagic telangiectasia

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : gdf2, acvrl1, smad4, smad4.2, eng

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): autosomal dominant disease (is_a), vascular disease (is_a)