General Information of Disease (ID: DISUIER4)

Disease Name Von Willebrand disease type 2M
Synonyms von Willebrand disease, type 2M
Definition
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 in the absence of any deficiency of high molecular weight VWF multimers.|Editor note: 2 sctitds refer to same disease
Disease Hierarchy
DISEYUBR: Von Willebrand disease 2
DISUIER4: Von Willebrand disease type 2M
Disease Identifiers
MONDO ID
MONDO_0015630
MESH ID
D056728
UMLS CUI
C1282974
MedGen ID
266186
Orphanet ID
166090

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
VWF OTNMMA2P Supportive Autosomal dominant [1]
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This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
VWF TT3SZBT Supportive Autosomal dominant [1]
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References

1 von Willebrand Disease. 2009 Jun 4 [updated 2017 Oct 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.