von Willebrand disease type 2N
MONDO:0015631Mondo
Findings
No curated finding names von Willebrand disease type 2N yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).
Definition from the Mondo Disease Ontology (MONDO:0015631), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- VWFHGNC:12726
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: von Willebrand disease type 2N
- Also called
- von Willebrand disease Normandy variantvon Willebrand disease, type 2N