von Willebrand's disease 1

Summary
Synonym
  • VWD type 1
  • VWD1
  • von Willebrand disease type 1
  • von Willebrand disease type I
Definition
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.
Super Class
von Willebrand's disease
Disease Ontology
DOID:0060573
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
Related Genes
Displaying all 4 entries
Gene ID Gene Symbol Description Source
3673 ITGA2 integrin subunit alpha 2
3674 ITGA2B integrin subunit alpha 2b
5327 PLAT plasminogen activator, tissue type
7450 VWF von Willebrand factor

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: April 7, 2025