|Dataset||CTD Gene-Disease Associations|
|Category||disease or phenotype associations|
|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)|
|Downloads & Tools|
1 genes/proteins associated with the disease Phosphoribosylpyrophosphate Synthetase Superactivity from the curated CTD Gene-Disease Associations dataset.
|PRPS1||phosphoribosyl pyrophosphate synthetase 1||2.88009|