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Mondo Disease Ontology
| Preferred Name | von Willebrand disease type 2A | |
| Synonyms |
von Willebrand disease, type 2A |
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| Definitions |
Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0015628 |
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| database_cross_reference |
Orphanet:166084 icd11.foundation:1009291548 GARD:17021 MEDGEN:220920 NCIT:C131686 SCTID:359714009 UMLS:C1282968
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|
| definition |
Type 2A von Willebrand disease (type 2A VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for platelets and the subendothelium caused by a deficiency of high molecular weight VWF multimers.
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| has_exact_synonym |
von Willebrand disease, type 2A
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|
| id |
MONDO:0015628
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| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-simple#otar 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 2A
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|
| notation |
MONDO:0015628
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|
| prefLabel |
von Willebrand disease type 2A
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| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_166084 http://identifiers.org/medgen/220920 http://linkedlifedata.com/resource/umls/id/C1282968 http://identifiers.org/snomedct/359714009 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1009291548 |
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