has material basis in germline mutation in SERPINC1 hereditary antithrombin deficiency https://github.com/monarch-initiative/mondo/issues/4521 https://www.malacards.org/card/antithrombin_iii_deficiency OMIM:613118 DOID:3755 A rare, genetic, hematological disease characterized by decreased levels of antithrombin activity in plasma resulting in impaired inactivation of thrombin and factor Xa. Patients have an increased risk for venous thromboembolism, usually in the deep veins of the arms, legs and pulmonary system and, on occasion, in other venous territories (e.g. cerebral veins or sinus, mesenteric, portal, hepatic, renal and/or retinal veins). hereditary thrombophilia due to congenital antithrombin deficiency AT3D inherited antithrombin deficiency NORD:791 congenital AT-III deficiency GARD:0006148 antithrombin 3 deficiency thrombophilia due to antithrombin 3 deficiency congenital antithrombin III deficiency Antithrombin Deficiency thrombophilia 7 due to antithrombin III deficiency SCTID:36351005 hereditary antithrombin deficiency MEDGEN:75781 UMLS:C0272375 MONDO:0013144 thrombophilia due to antithrombin III deficiency Orphanet:82 hereditary thrombophilia due to congenital antithrombin 3 deficiency ICD9:286.9 antithrombin III deficiency MESH:D020152 secondary avascular necrosis osteonecrosis of genetic origin inherited thrombophilia