| | 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 |
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 |