You are using an outdated browser. Please upgrade your browser to improve your experience.

von Willebrand disease 1

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description Type 1 von Willebrand disease (type 1 VWD) is a form of VWD characterized by a bleeding disorder associated with a partial quantitative plasmatic deficiency of an otherwise structurally and functionally normal Willebrand factor (von Willebrand factor; VWF).
Uniprot Description A common hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in impaired platelet aggregation. Von Willebrand disease type 1 is characterized by partial quantitative deficiency of circulating von Willebrand factor, that is otherwise structurally and functionally normal. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.
Disease Ontology Description A von Willebrand's disease characterized by quantitative partial deficiency of circulating VWF that has material_basis_in heterozygous mutation in the VWF gene on chromosome 12p13.
Mondo Term and Equivalent IDs
MONDO:0008668:  von Willebrand disease 1
MESH:D056725: 
NCIT:C131685: 
Orphanet:166078: 
SCTID:128106003: 
UMLS:C1264039: