Loading disease data
| Disease | Prevalence | Drugs | Proteins | |
|---|---|---|---|---|
| Agammaglobulinemia 10, autosomal dominant (AGM10) | Ultra-Rare | — | 1 | |
| Agammaglobulinemia 4, autosomal recessive (AGM4) | Very Rare | 2 | 1 | |
| Agammaglobulinemia 7, autosomal recessive (AGM7) | Very Rare | 2 | 1 | |
| Alpha-2-plasmin inhibitor deficiency (APLID) | Ultra-Rare | — | 1 | |
| Alpha-fetoprotein deficiency (AFPD) | Ultra-Rare | — | 1 | |
| Anemia, congenital, non-spherocytic hemolytic, 3 (CNSHA3) | Ultra-Rare | — | 1 | |
| Antithrombin III deficiency (AT3D) | Uncommon | 2 | 1 | |
| Bleeding disorder, platelet-type, 19 (BDPLT19) | Ultra-Rare | — | 1 | |
| Bone marrow failure syndrome 5 (BMFS5) | N/A | 2 | 1 | |
| Bone marrow failure syndrome 6 (BMFS6) | N/A | — | 1 | |
| Chronic recurrent multifocal osteomyelitis 2, with periostitis and pustulosis (CRMO2) | Ultra-Rare | 1 | 1 | |
| Erythrocytosis, familial, 1 (ECYT1) | N/A | — | 1 | |
| Factor II deficiency (FA2D) | Ultra-Rare | — | 1 | |
| Factor X deficiency (FA10D) | Very Rare | 1 | 1 | |
| Factor XI deficiency (FA11D) | Very Rare | — | 1 | |
| Factor XIII subunit B deficiency (FA13BD) | Ultra-Rare | 1 | 1 | |
| Hemolytic uremic syndrome, atypical, 1 (AHUS1) | Rare | — | 1 | |
| Hemolytic uremic syndrome, atypical, 4 (AHUS4) | Rare | — | 1 | |
| Hemophilia B (HEMB) | Rare | 22 | 1 | |
| Hyper-IgE syndrome 6, autosomal dominant, with recurrent infections (HIES6) | N/A | — | 1 | |
| Immunodeficiency 36 with lymphoproliferation (IMD36) | N/A | — | 1 | |
| Immunodeficiency 73A with defective neutrophil chemotaxis and leukocytosis (IMD73A) | Ultra-Rare | — | 1 | |
| Immunodeficiency, common variable, 1 (CVID1) | N/A | — | 1 | |
| Immunodeficiency, common variable, 13 (CVID13) | Ultra-Rare | 3 | 1 | |
| Immunodeficiency, common variable, 5 (CVID5) | N/A | 3 | 1 | |
| Immunodeficiency, common variable, 6 (CVID6) | N/A | — | 1 | |
| L-ferritin deficiency (LFTD) | Ultra-Rare | — | 1 | |
| Lymphatic malformation 10 (LMPHM10) | Common | — | 1 | |
| Megaloblastic anemia due to dihydrofolate reductase deficiency (DHFRD) | Ultra-Rare | — | 1 | |
| Myeloperoxidase deficiency (MPOD) | Ultra-Rare | — | 1 | |
| Neutropenia, severe congenital 8, autosomal dominant (SCN8) | Ultra-Rare | 1 | 1 | |
| Noonan syndrome 13 (NS13) | Uncommon | — | 1 | |
| Noonan syndrome 3 (NS3) | Uncommon | — | 1 | |
| Plasminogen activator inhibitor-1 deficiency (PAI-1D) | N/A | — | 1 | |
| Quebec platelet disorder (QPD) | Very Rare | — | 1 | |
| Takenouchi-Kosaki syndrome (TKS) | Ultra-Rare | — | 1 | |
| Thrombocytopenia 13, syndromic (THC13) | N/A | — | 1 | |
| Thrombocytopenia 6 (THC6) | Ultra-Rare | 56 | 1 | |
| Thrombocytopenia 9 (THC9) | N/A | — | 1 | |
| Thrombophilia due to heparin cofactor 2 deficiency (THPH10) | N/A | — | 1 | |
| Thrombophilia due to histidine-rich glycoprotein deficiency (THPH11) | N/A | — | 1 | |
| Thrombophilia due to protein C deficiency, autosomal dominant (THPH3) | Very Rare | — | 1 | |
| Thrombophilia due to protein C deficiency, autosomal recessive (THPH4) | Very Rare | — | 1 | |
| Thrombophilia due to protein S deficiency, autosomal dominant (THPH5) | N/A | — | 1 | |
| Thrombophilia due to protein S deficiency, autosomal recessive (THPH6) | N/A | — | 1 | |
| Thrombophilia due to thrombin defect (THPH1) | N/A | — | 1 | |
| Thrombophilia, X-linked, due to factor IX defect (THPH8) | Rare | — | 1 | |
| WHIM syndrome 1 (WHIMS1) | Ultra-Rare | — | 1 |