hepatic fibrinogen storage disease
An autosomal dominant disorder characterized by hypofibrinogenemia and variable liver disease (ranging from asymptomatic transaminase elevation to cirrhosis), caused by variants in FGG that lead to retention of variant fibrinogen as eosinophilic inclusions within the hepatocellular endoplasmic reticulum.
MONDO:0015096
familial hypofibrinogenemia
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
HFSD
exact
HHHS
exact
hepatocellular fibrinogen storage disease
exact
hereditary hypofibrinogenemia with hepatic storage
exact