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Mondo Disease Ontology
| Preferred Name | von Willebrand disease 2 | |
| Synonyms |
Von Willebrand disease, type 2B Von Willebrand disease, type 2M Von Willebrand disease, type 2N VWD, type 2 VON WILLEBRAND disease, type 2 Von Willebrand disease, type 2 Von Willebrand disease, type 2A von willebrand's disease 2 von Willebrand disease type 2 von Willebrand's disease type 2 von Willebrand disease, types 2A, 2B, 2M, and 2N von Willebrand disease type II VWD type 2 VWD2 von Willebrand disease 2 |
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| Definitions |
Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF). |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0013304 |
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| database_cross_reference |
SCTID:128107007 DOID:0060574 MEDGEN:224736 MESH:D056728 Orphanet:166081 GARD:17020 OMIM:613554 UMLS:C1264040
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|
| definition |
Type 2 von Willebrand disease (type 2 VWD) is a form of VWD characterized by a bleeding disorder associated with a qualitative deficiency and functional anomalies of the Willebrand factor (von Willebrand factor; VWF).
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| has_exact_synonym |
von willebrand's disease 2 von Willebrand disease type 2 von Willebrand's disease type 2 von Willebrand disease, types 2A, 2B, 2M, and 2N von Willebrand disease type II VWD type 2 VWD2 von Willebrand disease 2
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| has_related_synonym |
Von Willebrand disease, type 2B Von Willebrand disease, type 2M Von Willebrand disease, type 2N VWD, type 2 VON WILLEBRAND disease, type 2 Von Willebrand disease, type 2 Von Willebrand disease, type 2A
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| IAO_0000233 | ||
| id |
MONDO:0013304
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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 |
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| label |
von Willebrand disease 2
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| notation |
MONDO:0013304
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| prefLabel |
von Willebrand disease 2
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| skos_exactMatch |
http://identifiers.org/snomedct/128107007 http://identifiers.org/medgen/224736 http://purl.obolibrary.org/obo/Orphanet_166081 http://identifiers.org/mesh/D056728 |
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