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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Von Willebrand disease type 1 | |
| Synonyms |
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| Definitions |
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_166078 |
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| definition |
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a partial, quantitative plasmatic deficiency of an otherwise structurally and functionally normal von Willebrand factor (VWF).
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| definition_citation |
Orphanet
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=166078 |
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| has_age_of_onset |
All ages
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| has_inheritance |
Autosomal dominant
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| hasDbXref |
OMIM:193400 ICD-11:3B12 ICD-10:D68.0 MeSH:D056725 UMLS:C1264039
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| label |
Von Willebrand disease type 1
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| notation |
ORPHA:166078 Clinical subtype
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_166078
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| prefLabel |
Von Willebrand disease type 1
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| present_in |
Europe AND has_point_prevalence_range : 1-5 / 10 000
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| treeView | ||
| subClassOf |
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