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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

Xenbase Genes : gdf2, acvrl1, smad4, smad10, eng

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019180 - hereditary hemorrhagic telangiectasia


Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), vascular disease (is_a)