| | Disease name | Disease category |
FXII deficiency/HAE3 | H00941 | Factor XII deficiency | Hematologic disease |
| H01006 | Hereditary angioedema | Cardiovascular disease |
FXI deficiency | H00938 | Factor XI deficiency | Hematologic disease |
HEMB/THPH8 | H00219 | Hemophilia | Hematologic disease |
| H00223 | Inherited thrombophilia | Hematologic disease |
HEMA | H00219 | Hemophilia | Hematologic disease |
VWD | H02092 | von Willebrand disease | Hematologic disease |
| H00219 | Hemophilia | Hematologic disease |
FVII deficiency/MI | H02256 | Factor VII deficiency | Hematologic disease |
| H01730 | Myocardial infarction | Cardiovascular disease |
FX deficiency | H02257 | Factor X deficiency | Hematologic disease |
FV deficiency/THPH2/BDCHS | H00220 | Factor V deficiency | Hematologic disease |
| H00223 | Inherited thrombophilia | Hematologic disease |
| H01433 | Budd-Chiari syndrome | Digestive system disease |
FII deficiency/THPH1 | H01254 | Congenital prothrombin deficiency | Hematologic disease |
| H00223 | Inherited thrombophilia | Hematologic disease |
Afibrinogenemia/Amyloidosis | H00222 | Afibrinogenemia | Hematologic disease |
| H00845 | Familial amyloidosis | Nervous system disease |
Afibrinogenemia | H00222 | Afibrinogenemia | Hematologic disease |
FXIIIA deficiency/MI | H00945 | Factor XIII deficiency | Hematologic disease |
| H01730 | Myocardial infarction | Cardiovascular disease |
FXIIIB deficiency | H00945 | Factor XIII deficiency | Hematologic disease |
THPH10 | H00223 | Inherited thrombophilia | Hematologic disease |
PLG deficiency/HAE4 | H01206 | Plasminogen deficiency | Hematologic disease |
| H01006 | Hereditary angioedema | Cardiovascular disease |
QPD | H01235 | Bleeding disorder platelet-type | Hematologic disease |
PAI-1 deficiency | H01106 | Plasminogen activator inhibitor type 1 deficiency | Hematologic disease |
a2-PI deficiency | H00983 | Alpha-2-plasmin inhibitor (a2-PI) deficiency | Hematologic disease |
A1AT deficiency/COPD | H01103 | Alpha-1-antitrypsin deficiency | Inherited metabolic disorder |
| H01714 | Chronic obstructive pulmonary disease (COPD) | Respiratory system disease |
THPH3/4 | H00223 | Inherited thrombophilia | Hematologic disease |
THPH12 | H00223 | Inherited thrombophilia | Hematologic disease |
THPH5/6 | H00223 | Inherited thrombophilia | Hematologic disease |
PKKD | H01078 | Fletcher factor deficiency | Hematologic disease |
HAE6 | H01006 | Hereditary angioedema | Cardiovascular disease |
C1NH deficiency/HAE1/2 | H00106 | Complement regulatory protein defects | Primary immunodeficiency |
| H01006 | Hereditary angioedema | Cardiovascular disease |
AT deficiency/THPH7 | H01381 | Antithrombin III deficiency | Hematologic disease |
| H00223 | Inherited thrombophilia | Hematologic disease |
TTP | H00225 | Thrombotic thrombocytopenic purpura | Cardiovascular disease |
BSS/PT-VWD | H01740 | Macrothrombocytopenia | Hematologic disease |
| H02093 | Platelet-type von Willebrand disease | Hematologic disease |
BSS | H01740 | Macrothrombocytopenia | Hematologic disease |