| | Disease name | Disease category |
| IMD17/18/19/25 | H00091 | T-B+Severe combined immunodeficiency | Primary immunodeficiency |
| H00093 | Combined immunodeficiency | Primary immunodeficiency |
| IMD79 | H02526 | Disorders of adaptive immunity | Immune system disease |
| IMD22 | H00093 | Combined immunodeficiency | Primary immunodeficiency |
| IMD48/ADMIO2 | H00093 | Combined immunodeficiency | Primary immunodeficiency |
| H02540 | Infantile-onset multisystem autoimmune disease | Immune system disease |
| IMD81 | H02526 | Disorders of adaptive immunity | Immune system disease |
| IMD52 | H02526 | Disorders of adaptive immunity | Immune system disease |
| IMD132 | H00093 | Combined immunodeficiency | Primary immunodeficiency |
| Yersinia | H00297 | Plague | Bacterial infectious disease |
| H00298 | Yersiniosis | Bacterial infectious disease |
| CVID1 | H00088 | Common variable immunodeficiency | Immune system disease |
| IMD123 | H02526 | Disorders of adaptive immunity | Immune system disease |
| MV | H00394 | Measles | Viral infectious disease |
| ADMIO4 | H02540 | Infantile-onset multisystem autoimmune disease | Immune system disease |
| SLE/ALPS5/HT | H00080 | Systemic lupus erythematosus | Immune system disease |
| H00108 | Autoimmune lymphoproliferative syndromes | Primary immunodeficiency |
| H00081 | Hashimoto thyroiditis | Immune system disease |
| IMD82 | H02526 | Disorders of adaptive immunity | Immune system disease |
| AGMX1/IGHD3 | H00085 | Agammaglobulinemias | Immune system disease |
| H00254 | Growth hormone deficiency | Endocrine and metabolic disease |
| AGM4 | H00085 | Agammaglobulinemias | Immune system disease |
| APLAID/FCAS3 | H01743 | Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation | Immune system disease |
| H02159 | Familial cold autoinflammatory syndrome | Immune system disease |
| EBV | H00008 | Burkitt lymphoma | Cancer |
| H00007 | Hodgkin lymphoma | Cancer |
| H00054 | Nasopharyngeal cancer | Cancer |
| HTLV-1 | H00009 | Adult T-cell leukemia | Cancer |
| CVID3 | H00088 | Common variable immunodeficiency | Immune system disease |
| CVID7 | H00088 | Common variable immunodeficiency | Immune system disease |
| CVID6 | H00088 | Common variable immunodeficiency | Immune system disease |
| APDS/IMD14 | H01387 | Activated PI3K-delta syndrome | Immune system disease |
| H01725 | Primary immunodeficiency disease | Immune system disease |
| ROCHIS | H02585 | Roifman-Chitayat syndrome | Immune system disease |
| APDS2 | H01387 | Activated PI3K-delta syndrome | Immune system disease |
| SHORT/AGM7 | H01370 | SHORT syndrome | Congenital malformation |
| H00085 | Agammaglobulinemias | Immune system disease |