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 |