| Disease ID | Source | Name | Description |
| 613824 | OMIM | Nephronophthisis 9 (NPHP9) | An autosomal recessive disorder resulting in end-stage renal disease. It is a progressive tubulo-interstitial kidney disorder histologically characterized by modifications of the tubules with thickening of the basement membrane, interstitial fibrosis and, in the advanced stages, medullary cysts. The disease is caused by variants affecting the gene represented in this entry. |
| 615415 | OMIM | Renal-hepatic-pancreatic dysplasia 2 (RHPD2) | A form of renal-hepatic-pancreatic dysplasia, a disease characterized by cystic malformations of the kidneys, liver, and pancreas. The pathological findings consist of multicystic dysplastic kidneys, dilated and dysgenetic bile ducts, a dysplastic pancreas with dilated ducts, cysts, fibrosis and inflammatory infiltrates. The disease is caused by variants affecting the gene represented in this entry. |