Nucleotide and Nucleic Acid Metabolism Disorders
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| Records Return:
(18)
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| Description | Omim Number | Sample Count |
| ADENINE PHOSPHORIBOSYLTRANSFERASE; APRT | 102600 | 11 |
| ADENOSINE MONOPHOSPHATE DEAMINASE 1; AMPD1 | 102770 | 6 |
| ADENYLATE KINASE 1; AK1 | 103000 | 1 |
| DE SANCTIS-CACCHIONE SYNDROME | 278800 | 6 |
| EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3; ERCC3 | 133510 | 8 |
| INOSINE TRIPHOSPHATASE; ITPA | 147520 | 2 |
| LESCH-NYHAN SYNDROME; LNS | 300322 | 42 |
| LIG4 SYNDROME | 606593 | 2 |
| LIGASE I, DNA, ATP-DEPENDENT; LIG1 | 126391 | 2 |
| OROTIC ACIDURIA | 258900 | 2 |
| SEVERE COMBINED IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE, T CELL-NEGATIVE, B CELL-NEGATIVE, NK CELL-NEGATIVE, DUE TO ADENOSINE DEAMINASE DEFICIENCY | 102700 | 45 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA | 278700 | 32 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C; XPC | 278720 | 102 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D; XPD | 278730 | 36 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E | 278740 | 4 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP F; XPF | 278760 | 2 |
| XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G; XPG | 278780 | 14 |
| XERODERMA PIGMENTOSUM, VARIANT TYPE; XPV | 278750 | 21 |
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