hereditary hemorrhagic telangiectasia

Summary

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 Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: gdf2, acvrl1, smad4, smad10, eng

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019180 - hereditary hemorrhagic telangiectasia

MONDO:0019180 - hereditary hemorrhagic telangiectasia

Other Model Organisms: AGR, 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)