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factor 5 and Factor VIII, combined deficiency of, 2

Disease Summary
Associated Targets (1)
Tbio

1


Mondo Description Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene.
Uniprot Description A blood coagulation disorder characterized by bleeding symptoms similar to those in hemophilia or parahemophilia, that are caused by single deficiency of FV or FVIII, respectively. The most common symptoms are epistaxis, menorrhagia, and excessive bleeding during or after trauma. Plasma levels of coagulation factors V and VIII are in the range of 5 to 30% of normal.
Mondo Term and Equivalent IDs
MONDO:0013331:  factor 5 and Factor VIII, combined deficiency of, 2
UMLS:C3150889: