| | Disease name | Disease category |
| Salmonella | H00113 | Salmonellosis | Bacterial infectious disease |
| HIV | H01563 | HIV infection | Viral infectious disease |
| Escherichia | H00277 | Enterohemorrhagic Escherichia coli (EHEC) infection | Bacterial infectious disease |
| H00278 | Enteropathogenic Escherichia coli (EPEC) infection | Bacterial infectious disease |
| HTLV-1 | H00009 | Adult T-cell leukemia | Cancer |
| IMD57 | H02525 | Disorders of innate immunity | Immune system disease |
| TRAPS/MS5 | H00912 | Tumor necrosis factor receptor-associated periodic syndrome | Immune system disease |
| H01490 | Multiple sclerosis | Immune system disease |
| EDAID1/IP | H00540 | Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) | Congenital malformation |
| H00645 | Incontinentia pigmenti | Congenital malformation |
| EDAID1 | H00540 | Osteoporosis, lymphedema, anhydrotic ectodermal dysplasia with immunodeficiency (OLEDAID) | Congenital malformation |
| CMCU | H02593 | Chronic mucocutaneous ulceration | Immune system disease |
| KSHV | H00041 | Kaposi sarcoma | Cancer |
| EBV | H00008 | Burkitt lymphoma | Cancer |
| H00007 | Hodgkin lymphoma | Cancer |
| H00054 | Nasopharyngeal cancer | Cancer |
| HCV | H00048 | Hepatocellular carcinoma | Cancer |
| Shigella | H00299 | Shigellosis | Bacterial infectious disease |
| Escherichia/Shigella | H00277 | Enterohemorrhagic Escherichia coli (EHEC) infection | Bacterial infectious disease |
| H00278 | Enteropathogenic Escherichia coli (EPEC) infection | Bacterial infectious disease |
| H00299 | Shigellosis | Bacterial infectious disease |
| HCMV | H00368 | Cytomegalovirus infection | Viral infectious disease |
| PGBM1 | H01744 | Polyglucosan body myopathy | Immune system disease |
| AIPDS | H02414 | Autoinflammation, panniculitis, and dermatosis syndrome | Immune system disease |
| AIFBL1 | H02592 | Familial Behcet-like autoinflammatory syndrome | Immune system disease |
| AIEFL | H02620 | Autoinflammation with episodic fever and lymphadenopathy | Immune system disease |
| XLP2 | H01969 | X-linked lymphoproliferative syndrome | Primary immunodeficiency |
| ECTD1/STHAGX1 | H00651 | Hypohidrotic ectodermal dysplasia | Congenital malformation |
| H00625 | Tooth agenesis | Congenital malformation |
| ECTD10 | H00651 | Hypohidrotic ectodermal dysplasia | Congenital malformation |
| ECTD11 | H00651 | Hypohidrotic ectodermal dysplasia | Congenital malformation |
| HIGM1 | H00086 | Immunodeficiency with hyper-IgM | Immune system disease |
| HIGM3 | H00086 | Immunodeficiency with hyper-IgM | Immune system disease |
| IMD132B | H01725 | Primary immunodeficiency disease | Immune system disease |
| OPTB2 | H00436 | Osteopetrosis | Congenital malformation |
| OPTB7 | H00436 | Osteopetrosis | Congenital malformation |
| PDB2/FEO | H00437 | Paget disease of bone | Musculoskeletal disease |
| H02042 | Familial expansile osteolysis | Musculoskeletal disease |
| IMD16 | H00093 | Combined immunodeficiency | Primary immunodeficiency |
| LPFS3 | H01970 | Lymphoproliferative syndrome | Primary immunodeficiency |
| LPFS2 | H01970 | Lymphoproliferative syndrome | Primary immunodeficiency |
| CVID2 | H00088 | Common variable immunodeficiency | Immune system disease |
| CVID4 | H00088 | Common variable immunodeficiency | Immune system disease |
| HPV | H00030 | Cervical cancer | Cancer |
| HSV | H00365 | Herpes simplex virus infection | Viral infectious disease |