Platyspondylic dysplasia
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Platyspondylic dysplasia, Torrance type | 85166 | COL2A1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | C1835437 | COL2A1 | Causal Pathogenic evidence from ClinVar | 2543071, 10745044, 14729840, 15316962, 15643621, 21922596 | ClinVar |