Platyspondylic dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Platyspondylic dysplasia, Torrance type | 85166 | COL2A1 | |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type | C1835437 | COL2A1 | 2543071, 15643621, 10745044, 14729840, 21922596, 15316962 |