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thrombophilia, X-linked, due to factor 9 defect

Disease Summary
Associated Targets (1)
Tchem

1


Mondo Description A hemostatic disorder characterized by a tendency to thrombosis that has X-linked recessive inheritance, and can be caused by a gain-of-function mutation in the gene encoding factor IX (F9).
Uniprot Description A hemostatic disorder characterized by a tendency to thrombosis.
Mondo Term and Equivalent IDs
MONDO:0010432:  thrombophilia, X-linked, due to factor 9 defect
MESH:C567581: 
UMLS:C2749016: