Bone fragility with contractures, arterial rupture, and deafness
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Bone Fragility with Contractures, Arterial Rupture, and Deafness | C2676285 | PLOD3 | Causal Pathogenic evidence from ClinVar | 18834968, 30089812, 30237576 | ClinVar |