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Nucleotide and Nucleic Acid Metabolism Disorders

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

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