Osteoporosis-pseudoglioma syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Osteoporosis with pseudoglioma | C0432252 | LRP5 | Causal Pathogenic evidence from ClinVar | 11719191, 16252235, 16679074, 17437160, 18602879, 18825883, 21407258, 29131652 | ClinVar |
| Osteoporosis-pseudoglioma syndrome | 2788 | LRP5 | Causal Pathogenic evidence from ClinVar | - | ClinVar |