Disease ID | Source | Name | Description |
613092 | OMIM | Familial juvenile hyperuricemic nephropathy 2 (HNFJ2) | A renal disease characterized by juvenile onset of hyperuricemia, slowly progressive renal failure and anemia. The disease is caused by variants affecting the gene represented in this entry. |
267430 | OMIM | Renal tubular dysgenesis (RTD) | Autosomal recessive severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios (the Potter phenotype). The disease is caused by variants affecting the gene represented in this entry. |