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