Kniest dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Kniest dysplasia | 485, C0265279 | COL2A1 | Causal Pathogenic evidence from ClinVar | 2543071, 7874117, 8863156, 10406661, 11297324, 15895462, 18541977, 20513134, 21922596, 23188137 | ClinVar |