eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hyperuricemia |
| Symptom | C0451641|urolithiasis |
| Sentences | 1 |
| PubMedID- 24055166 | Affected individuals have hyperuricemia leading to gout and urolithiasis, accompanied by a characteristic severe neurobehavioural phenotype with compulsive self-mutilation, extrapyramidal motor disturbances and cognitive impairment. |
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