A disease that has its basis in the disruption of DNA repair.
| Disease | ID | Subtypes | Genes |
|---|---|---|---|
| Fanconi anemia | MONDO:0019391 | 22 | |
| Xeroderma pigmentosum | MONDO:0019600 | 10 | |
| COFS syndrome | MONDO:0008926 | 5 | |
| Cockayne syndrome | MONDO:0016006 | 4 | |
| Mismatch repair cancer syndrome | MONDO:0031219 | 4 | |
| UV-sensitive syndrome | MONDO:0015797 | 3 | |
| Photosensitive trichothiodystrophy | MONDO:0002470 | 3 | |
| Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy | MONDO:0020771 | 3 | |
| Nijmegen breakage syndrome | MONDO:0009623 | NBN | |
| Nijmegen breakage syndrome-like disorder | MONDO:0013118 | RAD50 | |
| Ataxia and polyneuropathy, adult-onset | MONDO:0010781 | ||
| Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia | MONDO:0008842 | APTX | |
| Ataxia-telangiectasia-like disorder 1 | MONDO:0024557 | MRE11 | |
| Ataxia-telangiectasia-like disorder 2 | MONDO:0014399 | PCNA | |
| Karyomegalic interstitial nephritis | MONDO:0013898 | FAN1 | |
| Severe combined immunodeficiency due to DCLRE1C deficiency | MONDO:0011225 | DCLRE1C |
Rare disease
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