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ENHyperuricemia, Hprt-Related (HRH)
Alias:
Hprt-Related Gout
Kelley-Seegmiller Syndrome
Hprt Deficiency, Partial
Hypoxanthine Guanine Phosphoribosyltransferase 1 Partial Deficiency
Hypoxanthine Guanine Phosphoribosyltransferase Deficiency, Grade I
Hypoxanthine Guanine Phosphoribosyltransferase Partial Deficiency
Partial Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency
Hrpt-Related Hyperuricemia
Hprt-Related Hyperuricemia
Hprt1 Deficiency, Partial
Hprt Deficiency, Grade I
Hprt1 Partial Deficiency
Hprt Partial Deficiency
Gout, Hprt-Related
Hrh
Hypoxanthine Guanine Phosphoribosyltransferase 1 Deficiency, Partial
Hyperuricemia, Hrpt-Related
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Hyperuricemia, Hprt-Related, also known as hprt-related gout, is related to disorder of purine metabolism and nephrolithiasis. An important gene associated with Hyperuricemia, Hprt-Related is HPRT1 (Hypoxanthine Phosphoribosyltransferase 1), and among its related pathways/superpathways are Metabolism and Diseases of glycosylation. Affiliated tissues include kidney, and related phenotypes are intellectual disability and nephropathy
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MALACARDS
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MGI
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IF
