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familial dysfibrinogenemia

Disease Summary
Associated Targets (5)
Tbio

4

Tchem

1


GARD Rare
Mondo Description Familial dysfibrinogenemia is a coagulation disorder characterized by a bleeding tendency due to a functional anomaly of circulating fibrinogen.
Uniprot Description A disorder characterized by qualitative abnormalities (dysfibrinogenemia) of the circulating fibrinogen. Affected individuals are frequently asymptomatic, but some patients have bleeding diathesis, thromboembolic complications, or both. In some cases, dysfibrinogenemia is associated with low circulating fibrinogen levels (hypodysfibrinogenemia).
Mondo Term and Equivalent IDs
MONDO:0014452:  familial dysfibrinogenemia
GARD:0002004: 
NCIT:C131659: 
Orphanet:98881: 
SCTID:111589005: 
UMLS:C1260903: 
UMLS:CN207171: