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Mondo Disease 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 |
SCTID:359721009 GARD:17022 SCTID:359717002 UMLS:C1282971 Orphanet:166087 icd11.foundation:1383884415 MEDGEN:224831 NCIT:C131687
|
|
| 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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| 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/mondo-simple#otar http://purl.obolibrary.org/obo/mondo/mondo-simple#clingen http://purl.obolibrary.org/obo/mondo/mondo-simple#rare http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_subtype_of_a_disorder |
|
| label |
von Willebrand disease type 2B
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|
| notation |
MONDO:0015629
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|
| prefLabel |
von Willebrand disease type 2B
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|
| skos_exactMatch |
http://purl.obolibrary.org/obo/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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