Cell Cycle Ontology

Last uploaded: June 26, 2014
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Preferred Name

von Willebrand disease 2
Synonyms
Definitions

(VWD2): A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.
ID

http://purl.obolibrary.org/obo/OMIM_613554
definition

(VWD2): A hemorrhagic disorder due to defects in von Willebrand factor protein and resulting in altered platelet aggregation. Von Willebrand disease type 2 is characterized by qualitative deficiency and functional anomalies of von Willebrand factor. It is divided in different subtypes including 2A, 2B, 2M and 2N (Normandy variant). The mutant VWF protein in types 2A, 2B and 2M are defective in their platelet-dependent function, whereas the mutant protein in type 2N is defective in its ability to bind factor VIII. Clinical manifestations are mucocutaneous bleeding, such as epistaxis and menorrhagia, and prolonged bleeding after surgery or trauma.
has_obo_namespace

cell_cycle_ontology
id

OMIM:613554
label

von Willebrand disease 2
notation

OMIM:613554
prefLabel

von Willebrand disease 2
treeView

http://purl.obolibrary.org/obo/OGMS_0000031
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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