| Description | Omim Number |
| ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT | 102600 |
| ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1 | 102770 |
| ADENYLATE KINASE 1; AK1 | 103000 |
| DE SANCTIS-CACCHIONE SYNDROME | 278800 |
| EXCISION-REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3 | 133510 |
| INOSINE TRIPHOSPHATASE; ITPA | 147520 |
| LESCH-NYHAN SYNDROME; LNS | 300322 |
| LIG4 SYNDROME | 606593 |
| LIGASE I, DNA, ATP-DEPENDENT; LIG1 | 126391 |
| OROTIC ACIDURIA I | 258900 |
| SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 102700 |
| XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP G; XPG | 278780 |
| XERODERMA PIGMENTOSUM VARIANT TYPE; XPV | 278750 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | 278700 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | 278720 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | 278730 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | 278740 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF | 278760 |
