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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Von Willebrand disease type 3 | |
| Synonyms |
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| Definitions |
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_166096 |
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| definition |
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a total or near-total absence of Willebrand factor (VWF) in the plasma and cellular compartments, also leading to a profound deficiency of plasmatic factor VIII (FVIII). It is the most severe form of VWD.
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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=166096 |
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| has_age_of_onset |
Infancy Neonatal
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| has_inheritance |
Autosomal recessive
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| hasDbXref |
OMIM:277480 MeSH:D056729 ICD-11:3B12 ICD-10:D68.0 UMLS:C1264041
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| label |
Von Willebrand disease type 3
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| notation |
ORPHA:166096 Clinical subtype
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_166096
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| prefLabel |
Von Willebrand disease type 3
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| present_in |
Italy AND has_point_prevalence_average_value : 0.055 AND has_point_prevalence_range : <1 / 1 000 000 Finland AND has_point_prevalence_average_value : 0.24 AND has_point_prevalence_range : <1 / 1 000 000 Austria AND has_point_prevalence_average_value : 0.037 AND has_point_prevalence_range : <1 / 1 000 000 Sweden AND has_point_prevalence_average_value : 0.312 AND has_point_prevalence_range : 1-9 / 1 000 000 Norway AND has_point_prevalence_average_value : 0.25 AND has_point_prevalence_range : 1-9 / 1 000 000 France AND has_point_prevalence_average_value : 0.016 AND has_point_prevalence_range : <1 / 1 000 000 Netherlands AND has_point_prevalence_average_value : 0.037 AND has_point_prevalence_range : <1 / 1 000 000 Worldwide AND has_point_prevalence_average_value : 0.1865 AND has_point_prevalence_range : 1-9 / 1 000 000 Portugal AND has_point_prevalence_average_value : 0.022 AND has_point_prevalence_range : <1 / 1 000 000 Greece AND has_birth_prevalence_average_value : 0.044 AND has_birth_prevalence_range : <1 / 1 000 000 Spain AND has_point_prevalence_average_value : 0.011 AND has_point_prevalence_range : <1 / 1 000 000 United Kingdom AND has_point_prevalence_average_value : 0.027 AND has_point_prevalence_range : <1 / 1 000 000 Israel AND has_point_prevalence_average_value : 0.16 AND has_point_prevalence_range : <1 / 1 000 000
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