| | Disease name | Disease category |
| TRAPS/MS5 | H00912 | Tumor necrosis factor receptor-associated periodic syndrome | Immune system disease |
| H01490 | Multiple sclerosis | Immune system disease |
| XLP2 | H01969 | X-linked lymphoproliferative syndrome | Primary immunodeficiency |
| HNSCC | H02610 | Head and neck squamous cell carcinoma | Cancer |
| ALPS1B | H00108 | Autoimmune lymphoproliferative syndromes | Primary immunodeficiency |
| ALPS1A | H00108 | Autoimmune lymphoproliferative syndromes | Primary immunodeficiency |
| BRSS/FC/MFT/FTDALS8 | H00827 | Brooke-Spiegler syndrome | Neoplasm |
| H00828 | Familial cylindromatosis | Neoplasm |
| H00829 | Multiple familial trichoepithelioma | Neoplasm |
| H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| ALPS2B | H00108 | Autoimmune lymphoproliferative syndromes | Primary immunodeficiency |
| FTDALS3 | H02342 | Frontotemporal dementia and amyotrophic lateral sclerosis | Nervous system disease |
| IMD69 | H01725 | Primary immunodeficiency disease | Immune system disease |
| IMD44 | H02525 | Disorders of innate immunity | Immune system disease |
| IMD65 | H02525 | Disorders of innate immunity | Immune system disease |
| IMD57 | H02525 | Disorders of innate immunity | Immune system disease |
| AIEFL | H02620 | Autoinflammation with episodic fever and lymphadenopathy | Immune system disease |
| ARMD10 | H00821 | Age-related macular degeneration | Nervous system disease |
| IIAE2 | H02536 | Infection-induced acute encephalopathy | Nervous system disease |
| IIAE6 | H02536 | Infection-induced acute encephalopathy | Nervous system disease |