Experimental Factor Ontology

Last uploaded: December 16, 2024
Preferred Name

von Willebrand disease 2
Synonyms

VWD, type 2

Von Willebrand disease, type 2

Von Willebrand disease, type 2N

Von Willebrand disease, type 2M

Von Willebrand disease, type 2A

Von Willebrand disease, type 2B

VON WILLEBRAND disease, type 2

von Willebrand disease type 2

von Willebrand disease, types 2A, 2B, 2M, and 2N

von willebrand's disease 2

von Willebrand's disease type 2

von Willebrand disease type II

von Willebrand disease 2

VWD type 2

VWD2

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).

ID

http://purl.obolibrary.org/obo/MONDO_0013304

database_cross_reference

MEDGEN:224736

OMIM:613554

SCTID:128107007

MESH:D056728

UMLS:C1264040

Orphanet:166081

DOID:0060574

GARD:17020

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).

exactMatch

http://www.orpha.net/ORDO/Orphanet_166081

http://identifiers.org/snomedct/128107007

http://identifiers.org/medgen/224736

https://omim.org/entry/613554

http://identifiers.org/mesh/D056728

http://purl.obolibrary.org/obo/DOID_0060574

http://linkedlifedata.com/resource/umls/id/C1264040

has_exact_synonym

von Willebrand disease type 2

von Willebrand disease, types 2A, 2B, 2M, and 2N

von willebrand's disease 2

von Willebrand's disease type 2

von Willebrand disease type II

von Willebrand disease 2

VWD type 2

VWD2

has_related_synonym

VWD, type 2

Von Willebrand disease, type 2

Von Willebrand disease, type 2N

Von Willebrand disease, type 2M

Von Willebrand disease, type 2A

Von Willebrand disease, type 2B

VON WILLEBRAND disease, type 2

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/4521

id

MONDO:0013304

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#gard_rare

http://purl.obolibrary.org/obo/mondo#ordo_subtype_of_a_disorder

label

von Willebrand disease 2

notation

MONDO:0013304

preferred label

von Willebrand disease 2

prefLabel

von Willebrand disease 2

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019565

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