loading...| Preferred Name |
Von Willebrand disease |
| ID |
http://www.orpha.net/ORDO/Orphanet_903 |
| alternative_term |
Hereditary von Willebrand disease |
| definition |
A rare, inherited bleeding disorder characterized by defective platelet adhesion and secondary coagulation defect that manifests as abnormal bleeding of variable severity occurring either spontaneously or in association with an invasive procedure. Three main subtypes are defined based on the type of von Willebrand factor defect: partial (type 1) or total (type 3) deficiency, and qualitative/functional anomalies (type 2). |
| definition_citation |
Orphanet |
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=903 |
| has_age_of_onset |
All ages |
| has_inheritance |
Autosomal recessive Autosomal dominant |
| hasDbXref |
ICD-11:3B12 OMIM:277480 MedDRA:10047715 OMIM:613554 UMLS:C0042974 ICD-10:D68.0 OMIM:314560 OMIM:193400 MeSH:D014842 |
| label |
Von Willebrand disease |
| notation |
ORPHA:903 |
| part_of | |
| prefixIRI |
ORDO:Orphanet_903 |
| prefLabel |
Von Willebrand disease |
| present_in |
Worldwide AND has_point_prevalence_average_value : 10.0 AND has_point_prevalence_range : 1-5 / 10 000 |
| treeView | |
| subClassOf |