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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Von Willebrand disease type 2 | |
| Synonyms |
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| Definitions |
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_166081 |
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| definition |
A form of von Willebrand disease (VWD) characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (VWF). Depending on the type of functional abnormalities, this form is classified as type 2A, 2B, 2M or 2N.
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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=166081 |
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| has_age_of_onset |
All ages
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| has_inheritance |
Autosomal recessive Autosomal dominant
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| hasDbXref |
OMIM:613554 ICD-11:3B12 ICD-10:D68.0 MeSH:D056728 UMLS:C1264040
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| label |
Von Willebrand disease type 2
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| notation |
ORPHA:166081 Clinical subtype
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_166081
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| prefLabel |
Von Willebrand disease type 2
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| present_in |
Worldwide AND has_point_prevalence_average_value : 0.935 AND has_point_prevalence_range : 1-9 / 1 000 000
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| treeView | ||
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