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Experimental Factor Ontology
| Preferred Name | von Willebrand disease type 2B | |
| Synonyms |
von Willebrand disease, type 2B von Willebrand disease type 2B |
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| Definitions |
A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015629 |
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| curated_content_resource |
https://search.clinicalgenome.org/kb/conditions/MONDO:0015629 |
|
| database_cross_reference |
NCIT:C131687 icd11.foundation:1383884415 UMLS:C1282971 SCTID:359721009 MEDGEN:224831 Orphanet:166087 SCTID:359717002 GARD:17022
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|
| definition |
A subtype of type 2 VWD characterized by a bleeding disorder associated with an increase in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets. This anomaly results in spontaneous binding of high molecular weight VWF multimers to platelets leading to rapid clearance of both the platelets (increasing the risk of thrombocytopenia) and the high molecular weight VWF multimers from the plasma.
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| exactMatch |
http://www.orpha.net/ORDO/Orphanet_166087 http://linkedlifedata.com/resource/umls/id/C1282971 http://identifiers.org/snomedct/359717002 http://identifiers.org/medgen/224831 http://purl.obolibrary.org/obo/NCIT_C131687 http://identifiers.org/snomedct/359721009 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1383884415 |
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| has_exact_synonym |
von Willebrand disease, type 2B von Willebrand disease type 2B
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|
| id |
MONDO:0015629
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|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#nord_rare http://purl.obolibrary.org/obo/mondo#otar http://purl.obolibrary.org/obo/mondo#clingen http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder |
|
| label |
von Willebrand disease type 2B
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|
| notation |
MONDO:0015629
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|
| preferred label |
von Willebrand disease type 2B
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|
| prefLabel |
von Willebrand disease type 2B
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| subClassOf |
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