Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

von Willebrand disease type 2A
Synonyms

von Willebrand disease, type 2A

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.

ID

http://purl.obolibrary.org/obo/MONDO_0015628

database_cross_reference

MEDGEN:220920

SCTID:359714009

Orphanet:166084

icd11.foundation:1009291548

UMLS:C1282968

NCIT:C131686

GARD:17021

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.

has_exact_synonym

von Willebrand disease, type 2A

id

MONDO:0015628

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

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

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare

label

von Willebrand disease type 2A

notation

MONDO:0015628

preferred label

von Willebrand disease type 2A

prefLabel

von Willebrand disease type 2A

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

http://purl.obolibrary.org/obo/NCIT_C131686

subClassOf

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

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