| | 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 |