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von Willebrand disease type 2B

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Type 2B von Willebrand disease (type 2B VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.
Mondo Term and Equivalent IDs
MONDO:0015629:  von Willebrand disease type 2B
NCIT:C131687: 
Orphanet:166087: 
SCTID:359717002: 
SCTID:359721009: 
UMLS:C1282971: