| Dataset | DisGeNET Gene-Disease Associations |
| Category | disease or phenotype associations |
| Type | disease |
| Description | Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is an X-linked disorder of purine metabolism associated with hyperuricemia and hyperuricosuria, and comprising two forms: an early-onset severe form characterized by gout, urolithiasis, and neurodevelopmental anomalies, and a mild late-onset form with no neurologic involvement. (Orphanet Rare Disease Ontology, Orphanet_3222) |
| External Link | https://www.disgenet.org/browser/0/1/0/C1970827 |
| Similar Terms | |
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6 genes associated with the disease Phosphoribosylpyrophosphate Synthetase Superactivity in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.
