Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

von Willebrand disease type 2N
Synonyms

von Willebrand disease Normandy variant

von Willebrand disease, type 2N

Definitions

Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).

ID

http://purl.obolibrary.org/obo/MONDO_0015631

database_cross_reference

Orphanet:166093

MEDGEN:266187

icd11.foundation:1091176565

NCIT:C131689

UMLS:C1282975

SCTID:359732009

GARD:17024

definition

Type 2N von Willebrand disease (type 2N VWD) is a subtype of type 2 VWD characterized by a bleeding disorder associated with a marked decrease in the affinity of the Willebrand factor (von Willebrand factor; VWF) for factor VIII (FVIII).

has_exact_synonym

von Willebrand disease Normandy variant

von Willebrand disease, type 2N

id

MONDO:0015631

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 2N

notation

MONDO:0015631

preferred label

von Willebrand disease type 2N

prefLabel

von Willebrand disease type 2N

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C1282975

http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1091176565

http://identifiers.org/snomedct/359732009

http://identifiers.org/medgen/266187

http://purl.obolibrary.org/obo/Orphanet_166093

http://purl.obolibrary.org/obo/NCIT_C131689

subClassOf

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

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