Human Disease Ontology

Last uploaded: November 27, 2024
Preferred Name

von Willebrand's disease
Synonyms

vascular pseudohemophilia

von Willebrand disease

vascular hemophilia

von Willebrand disorder

von Willebrand-Jrgens disease

von Willebrand's-Jurgens' disease

Definitions

A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion. OMIM mapping confirmed by DO. [SN].

ID

http://purl.obolibrary.org/obo/DOID_12531

comment

OMIM mapping confirmed by DO. [SN].

database_cross_reference

MESH:D014842

UMLS_CUI:C0042974

ICD9CM:286.4

SNOMEDCT_US_2023_03_01:11093006

ICD10CM:D68.0

GARD:7867

NCI:C68677

definition

A blood coagulation disease that is a hereditary abnormality which slows the blood clotting process. It arises from a qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.

has exact synonym

vascular pseudohemophilia

von Willebrand disease

vascular hemophilia

von Willebrand disorder

von Willebrand-Jrgens disease

von Willebrand's-Jurgens' disease

has_obo_namespace

disease_ontology

id

DOID:12531

in_subset

http://purl.obolibrary.org/obo/doid#NCIthesaurus

http://purl.obolibrary.org/obo/doid#DO_rare_slim

label

von Willebrand's disease

notation

DOID:12531

prefLabel

von Willebrand's disease

subClassOf

http://purl.obolibrary.org/obo/DOID_1247

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