| Metadata | |
|---|---|
| ID | DOID:0111054 |
| Name | von Willebrand's disease 3 |
| Definition | A von Willebrand's disease characterized by autosomal recessive inheritance of a severe quantitative defect or virtual absence of VWF in plasma, prolonged bleeding time, and more severe bleeding tendencies compared to the other types of von Willebrand disease that has_material_basis_in homozygous or compound heterozygous mutation in the VWF gene which maps to chromosome 12p13. https://www.ncbi.nlm.nih.gov/pubmed/19630771, https://www.ncbi.nlm.nih.gov/pubmed/3258663 |
| Xrefs |
SNOMEDCT_US_2023_03_01:128108002 |
| Subsets |
DO_rare_slim NCIthesaurus |
| Synonyms |
von Willebrand disease type 3 [EXACT] von Willebrand disease type III [EXACT] VWD type 3 [EXACT] VWD3 [EXACT] |
| Parent Relationships |