| Disease ID | Source | Name | Description |
| 615382 | OMIM | Nephronophthisis 16 (NPHP16) | A form of nephronophthisis, a chronic tubulo-interstitial nephritis that progresses to end-stage renal failure. Some patients have cystic kidneys of normal size and no extrarenal manifestations, whereas others have enlarged renal size and severe extrarenal defects, including hypertrophic obstructive cardiomyopathy, aortic stenosis, pulmonary stenosis, patent ductus arteriosus, situs inversus, and periportal liver fibrosis. The disease is caused by variants affecting the gene represented in this entry. |