Kelley-Seegmiller syndrome (Q97744): Difference between revisions
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Revision as of 13:52, 16 August 2026
Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1094084865 |
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| English | Kelley-Seegmiller syndrome |
Kelley-Seegmiller syndrome is the mildest form of hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency, a hereditary disorder of purine metabolism, and is associated with uric acid overproduction leading to urolithiasis, and early-onset gout. |
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CID11:ID_1094084865
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