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Telangiectasia, Hereditary Hemorrhagic

Disease ID: disease_node_7298

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DbxrefGARD:6626, ICD10CM:I78.0, ICD9CM:448.0, MESH:D013683, MIM:187300, MIM:600376, MIM:615506, NCI:C35064, ORDO:774, SNOMEDCT_US_2023_03_01:266324004, UMLS_CUI:C0039445
SubclassofDOID_0050736, DOID_178
Data SourceDOID, MESH
SynonymsOsler hemorrhagic telangiectasia syndrome, Osler-Weber-Rendu disease, Rendu-Osler-Weber disease
Mesh IdD013683
Mesh LabelTelangiectasia, Hereditary Hemorrhagic
Mesh SubclassofD013684, D020141, D054079
Doid Labelhereditary hemorrhagic telangiectasia
Doid DescriptionA vascular disease characterized by the presence of multiple arteriovenous malformations that lack intervening capillaries and result in direct connections between arteries and veins. Xref MGI. OMIM mapping confirmed by DO. [SN].
Has Material Basis InGENO_0000147
Disease Node Iddisease_node_7298
Doid IdDOID_1270
LabelTelangiectasia, Hereditary Hemorrhagic