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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Preferred Name | Von Willebrand disease type 2M | |
| Synonyms |
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| Definitions |
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.). |
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| ID |
http://www.orpha.net/ORDO/Orphanet_166090 |
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| definition |
A subtype of type 2 von Willebrand disease characterized by a bleeding disorder associated with decreased affinity of the Willebrand factor (VWF) for platelets or collagen in the absence of any deficiency of high molecular weight VWF multimers. The disease manifests as mucocutaneous bleeding (menorrhagia, epistaxis, gastrointestinal hemorrhage, etc.).
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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=166090 |
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| has_inheritance |
Autosomal dominant
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| hasDbXref |
OMIM:613554 ICD-11:3B12 ICD-10:D68.0 UMLS:C1282974
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| label |
Von Willebrand disease type 2M
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| notation |
ORPHA:166090 Clinical subtype
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| prefixIRI |
ORDO:Orphanet_166090
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| prefLabel |
Von Willebrand disease type 2M
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown
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| subClassOf |
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