has material basis in germline mutation in disease arises from feature disease has basis in feature F12 Reduced factor XII activity autosomal genetic disease coagulation protein disease hemorrhagic disease congenital factor XII deficiency https://github.com/monarch-initiative/mondo/issues/4069 https://rarediseases.info.nih.gov/diseases/6558/factor-xii-deficiency https://www.malacards.org/card/factor_xii_deficiency DOID:2231 UMLS:C0015526 Orphanet:330 GARD:0006558 MONDO:0009315 congenital Hageman factor deficiency SCTID:46981006 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. MEDGEN:8772 ICD9:286.3 Hageman Factor deficiency MESH:D005175 coagulation factor 12 deficiency NORD:1119 NCIT:C131740 factor 12 deficiency congenital factor XII deficiency OMIM:234000 NANDO:2200680 congenital hematological disorder inherited blood coagulation disorder