| | Disease name | Disease category |
| SAVI | H01746 | STING-associated vasculopathy with onset in infancy | Immune system disease |
| HSV | H00365 | Herpes simplex virus infection | Viral infectious disease |
| HCMV | H00368 | Cytomegalovirus infection | Viral infectious disease |
| Shigella | H00299 | Shigellosis | Bacterial infectious disease |
| HIV | H01563 | HIV infection | Viral infectious disease |
| AGS1/SLE/CHBL1/RVCL | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| H00080 | Systemic lupus erythematosus | Immune system disease |
| H00291 | Familial chilblain lupus (FCL) | Immune system disease |
| H01000 | Retinal vasculopathy with cerebral leukodystrophy | Nervous system disease |
| SLE | H00080 | Systemic lupus erythematosus | Immune system disease |
| SLEB16 | H00080 | Systemic lupus erythematosus | Immune system disease |
| AIPCS | H02608 | Autoinflammatory-pancytopenia syndrome | Immune system disease |
| AGS4 | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| AGS2 | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| AGS3 | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| AGS5/CHBL2 | H00290 | Aicardi-Goutieres syndrome | Immune system disease |
| H00291 | Familial chilblain lupus (FCL) | Immune system disease |