| | Disease name | Disease category |
| IBD1 | H01227 | Inflammatory bowel disease (IBD) | Immune system disease |
| Blau syndrome | H00285 | Blau syndrome | Immune system disease |
| Shigella | H00299 | Shigellosis | Bacterial infectious disease |
| Salmonella | H00113 | Salmonellosis | Bacterial infectious disease |
| NAIAD/VAMAS1 | H02588 | NLRP1-associated autoinflammation with arthritis and dyskeratosis | Immune system disease |
| H01372 | Vitiligo | Skin disease |
| MWS/CINCA/FCAS1/DFNA34 | H02555 | Muckle-Wells syndrome | Immune system disease |
| H02556 | CINCA syndrome | Immune system disease |
| H02159 | Familial cold autoinflammatory syndrome | Immune system disease |
| H00604 | Deafness, autosomal dominant | Nervous system disease |
| IAV | H00398 | Influenza | Viral infectious disease |
| Yersinia | H00297 | Plague | Bacterial infectious disease |
| H00298 | Yersiniosis | Bacterial infectious disease |
| Escherichia | H00277 | Enterohemorrhagic Escherichia coli (EHEC) infection | Bacterial infectious disease |
| H00278 | Enteropathogenic Escherichia coli (EPEC) infection | Bacterial infectious disease |
| IBD30 | H01227 | Inflammatory bowel disease (IBD) | Immune system disease |
| IBD19 | H01227 | Inflammatory bowel disease (IBD) | Immune system disease |
| FCAS2 | H02159 | Familial cold autoinflammatory syndrome | Immune system disease |
| FCAS4/AIFEC | H02159 | Familial cold autoinflammatory syndrome | Immune system disease |
| H01748 | NLRC4 inflammasomopathy | Immune system disease |
| FMF/AFND | H00288 | Familial Mediterranean fever | Immune system disease |
| H02590 | Acute febrile neutrophilic dermatosis | Immune system disease |
| PAPA | H00287 | Pyogenic sterile arthritis, pyoderma gangrenosum, and acne syndrome | Immune system disease |
| IMD100 | H01725 | Primary immunodeficiency disease | Immune system disease |
| HCV | H00048 | Hepatocellular carcinoma | Cancer |
| HSV | H00365 | Herpes simplex virus infection | Viral infectious disease |