congenital factor XII deficiency
Congenital factor XII deficiency is an autosomal recessive systemic dysfunction of the hemostatic pathway, that is due to a defect in the coagulation factor XII (FXII or Hageman factor), and is either asymptomatic or characterized by a prolonged activated partial thromboplastin time and an increased risk for thromboembolism. FXII deficiency is strongly associated with primary recurrent abortions.
MONDO:0000429
autosomal genetic disease
is_a
MONDO:0002242
coagulation protein disease
is_a
MONDO:0002243
hemorrhagic disease
is_a
MONDO:0009332
congenital hematological disorder
is_a
MONDO:0021181
inherited blood coagulation disorder
is_a
Factor XII Deficiency
exact
Hageman Factor deficiency
exact
coagulation factor 12 deficiency
related
congenital Hageman factor deficiency
exact
congenital factor XII deficiency
exact
factor 12 deficiency
related