| | Disease name | Disease category |
| IMD63 | H02525 | Disorders of innate immunity | Immune system disease |
| SCID/IMD6 | H00091 | T-B+Severe combined immunodeficiency | Primary immunodeficiency |
| H00093 | Combined immunodeficiency | Primary immunodeficiency |
| SCID | H00091 | T-B+Severe combined immunodeficiency | Primary immunodeficiency |
| HTLV-1 | H00009 | Adult T-cell leukemia | Cancer |
| EBV | H00008 | Burkitt lymphoma | Cancer |
| H00007 | Hodgkin lymphoma | Cancer |
| H00054 | Nasopharyngeal cancer | Cancer |
| SMDP4 | H01122 | Congenital pulmonary alveolar proteinosis | Respiratory system disease |
| SMDP5 | H01122 | Congenital pulmonary alveolar proteinosis | Respiratory system disease |
| CISS2 | H00935 | Cold-induced sweating syndrome | Congenital malformation |
| HIES4/STWS2 | H01968 | Hyper-IgE syndrome | Immune system disease |
| H00462 | Stuve-Wiedemann syndrome | Congenital malformation |
| HIES5 | H01968 | Hyper-IgE syndrome | Immune system disease |
| PLCA1 | H01217 | Primary localized cutaneous amyloidosis | Skin disease |
| PLCA2 | H01217 | Primary localized cutaneous amyloidosis | Skin disease |
| STWS1 | H00462 | Stuve-Wiedemann syndrome | Congenital malformation |
| AIIDE | H02537 | Autoinflammation, immune dysregulation, and eosinophilia | Immune system disease |
| HIES1 | H01968 | Hyper-IgE syndrome | Immune system disease |
| ADMIO1 | H02540 | Infantile-onset multisystem autoimmune disease | Immune system disease |
| HIES6 | H01968 | Hyper-IgE syndrome | Immune system disease |
| KSHV | H00041 | Kaposi sarcoma | Cancer |
| HBV | H00048 | Hepatocellular carcinoma | Cancer |
| IBD28 | H01227 | Inflammatory bowel disease (IBD) | Immune system disease |
| IBD25 | H01227 | Inflammatory bowel disease (IBD) | Immune system disease |
| HCMV | H00368 | Cytomegalovirus infection | Viral infectious disease |
| IMD29 | H00089 | IFN-gamma/IL-12 axis | Primary immunodeficiency |
| IMD30 | H00089 | IFN-gamma/IL-12 axis | Primary immunodeficiency |
| IBD17 | H01227 | Inflammatory bowel disease (IBD) | Immune system disease |
| THCYT1 | H01612 | Essential thrombocythemia | Hematologic disease |
| ECYT5 | H00236 | Congenital polycythemia | Hematologic disease |
| IGHD1 | H02035 | Isolated growth hormone deficiency | Endocrine and metabolic disease |
| LEPD | H02059 | Leptin deficiency | Endocrine and metabolic disease |
| THCYT2/MF | H01612 | Essential thrombocythemia | Hematologic disease |
| H01605 | Myelofibrosis | Cancer |
| ECYT1 | H00236 | Congenital polycythemia | Hematologic disease |
| Laron syndrome | H02037 | Laron syndrome | Endocrine and metabolic disease |
| SCN7 | H00100 | Neutropenic disorders | Primary immunodeficiency |
| LEPRD | H02060 | Leptin receptor deficiency | Endocrine and metabolic disease |
| HPRL | H01388 | Hyperprolactinemia | Endocrine and metabolic disease |
| THCYT3/ECYT1/MF | H01612 | Essential thrombocythemia | Hematologic disease |
| H00236 | Congenital polycythemia | Hematologic disease |
| H01605 | Myelofibrosis | Cancer |
| GHISID | H00931 | Growth hormone insensitivity with immunodeficiency | Endocrine and metabolic disease |
| IMD45 | H02525 | Disorders of innate immunity | Immune system disease |
| IMD44 | H02525 | Disorders of innate immunity | Immune system disease |
| PTORCH3 | H00840 | Pseudo-TORCH syndrome | Congenital malformation |
| IMD65 | H02525 | Disorders of innate immunity | Immune system disease |
| PTORCH2 | H00840 | Pseudo-TORCH syndrome | Congenital malformation |
| IMD27 | H00089 | IFN-gamma/IL-12 axis | Primary immunodeficiency |
| IMD28 | H00089 | IFN-gamma/IL-12 axis | Primary immunodeficiency |
| IMD31/CANDF7 | H00089 | IFN-gamma/IL-12 axis | Primary immunodeficiency |
| H01109 | Chronic mucocutaneous candidiasis | Immune system disease |