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hereditary von Willebrand disease

Disease Summary
Associated Targets (8)
Tclin

5

Tbio

3


Mondo Description Hereditary von Willebrand disease (VWD) is a hereditary bleeding disorder caused by a genetic anomaly leading to quantitative, structural or functional abnormalities of the Willebrand factor (von Willebrand factor; VWF). Two major groups of VWF deficiency have been defined: quantitative and partial (type 1) or total (type 3), and qualitative (type 2) with several subtypes (2A, 2B, 2M, 2N).
Disease Ontology Description A coagulation protein disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.
Mondo Term and Equivalent IDs
MONDO:0019565:  hereditary von Willebrand disease
GARD:0007867: 
MESH:C531844: 
Orphanet:903: 
SCTID:234446004: 
UMLS:C0042974: