Thanatophoric dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Thanatophoric Dysplasia | C0039743 | FGFR3 | 19855393 |
| Thanatophoric dysplasia, type 2 | C1300257 | FGFR3 | 7773297, 16912704, 7647778, 8754806, 12297284 |
| THANATOPHORIC DYSPLASIA, TYPE I (disorder) | C1868678 | FGFR3 | 8078586, 8841188, 16912704, 7773297, 9790257, 17509076, 10671061, 8589699, 10360402, 7647778, 8845844 |
| Thanatophoric dysplasia type 1 | 1860 | FGFR3 | |
| Thanatophoric dysplasia type 2 | 93274 | FGFR3 |