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hemophilia A

Disease Summary
Associated Targets (6)
Tclin

4

Tchem

1

Tbio

1


GARD Rare
Mondo Description Hemophilia A is the most common form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor VIII deficiency.
Uniprot Description A disorder of blood coagulation characterized by a permanent tendency to hemorrhage. About 50% of patients have severe hemophilia resulting in frequent spontaneous bleeding into joints, muscles and internal organs. Less severe forms are characterized by bleeding after trauma or surgery.
Disease Ontology Description A X-linked recessive disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged.
Mondo Term and Equivalent IDs
MONDO:0010602:  hemophilia A
EFO:0007267: 
GARD:0006591: 
MESH:D006467: 
NCIT:C27146: 
Orphanet:98878: 
SCTID:234440005: 
UMLS:C0019069: 
UMLS:CN239112: