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

Disease Ontology Definition:An autosomal dominant 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,

Echinobase Genes :


OMIM:
MIM:600376 - telangiectasia, hereditary hemorrhagic, type 2; hht2 pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related, included
MIM:615506 - telangiectasia, hereditary hemorrhagic, type 5; hht5

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)