Disease ID | Source | Name | Description |
615862 | OMIM | Nephronophthisis 18 (NPHP18) | An autosomal recessive disorder characterized by chronic tubulointerstitial nephritis resulting in end-stage renal disease in early childhood. Extrarenal manifestations, including intellectual disability or liver changes, may occur in some patients. The disease is caused by variants affecting the gene represented in this entry. |