| Disease ID | Source | Name | Description |
| 613845 | OMIM | Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis syndrome (HUPRAS) | A multisystem disorder characterized by onset in infancy of progressive renal failure leading to electrolyte imbalances, metabolic alkalosis, pulmonary hypertension, hypotonia, and delayed development. Affected individuals are born prematurely. The disease is caused by variants affecting the gene represented in this entry. |