| 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 |
