| Disease ID | Source | Name | Description |
| 604387 | OMIM | Nephronophthisis 3 (NPHP3) | An autosomal recessive disorder resulting in end-stage renal disease. It is characterized by polyuria, polydipsia, anemia. Onset of terminal renal failure occurr significantly later (median age, 19 years) than in juvenile nephronophthisis. Renal pathology is characterized by alterations of tubular basement membranes, tubular atrophy and dilation, sclerosing tubulointerstitial nephropathy, and renal cyst development predominantly at the corticomedullary junction. The disease is caused by variants affecting the gene represented in this entry. |
| 267010 | OMIM | Meckel syndrome 7 (MKS7) | A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly. The disease is caused by variants affecting the gene represented in this entry. |
| 208540 | OMIM | Renal-hepatic-pancreatic dysplasia 1 (RHPD1) | 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. |