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中文Hyperuricemia, 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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高尿酸血症，Hprt相关，也称为Hprt相关痛风，与嘌呤代谢障碍和肾结石有关。与高尿酸血症，Hprt相关相关的基因是HPRT1（次黄嘌呤磷酸核糖转移酶1），其相关通路/超级通路包括代谢和糖基化疾病。附属组织包括肾脏，相关表型为智力障碍和肾病。
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Basic Information
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MALACARDS
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MGI
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