Renal coloboma syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Papillorenal syndrome | C1852759 | PAX2 | Causal Pathogenic evidence from ClinVar | 8589702, 9760197, 9916932, 10533062, 11168927, 15652857, 19954729, 22213154, 24676634, 27657687 | ClinVar |
| Renal coloboma syndrome | 1475 | PAX2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |