You are using an outdated browser. Please upgrade your browser to improve your experience.
This repository is under review for potential modification in compliance with Administration directives.
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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060573
MESH:D056725
NCIT:C131685
OMIM:193400
Orphanet:166078
SCTID:128106003
UMLS:C1264039
MONDO:0008668
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.