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hemophilia B

Disease Summary
Associated Targets (3)
Tbio

2

Tchem

1


GARD Rare
Mondo Description Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.
Uniprot Description An X-linked blood coagulation disorder characterized by a permanent tendency to hemorrhage, due to factor IX deficiency. It is phenotypically similar to hemophilia A, but patients present with fewer symptoms. Many patients are asymptomatic until the hemostatic system is stressed by surgery or trauma.
Disease Ontology Description An inherited blood coagulation disease that has_material_basis_in Factor IX deficiency, which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait.
Mondo Term and Equivalent IDs
MONDO:0010604:  hemophilia B
EFO:0009154: 
GARD:0008732: 
ICD9:286.1: 
MESH:D002836: 
NCIT:C26721: 
Orphanet:98879: 
SCTID:41788008: 
UMLS:C0008533: