Short-rib thoracic dysplasia with or without polydactyly
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY | C4225286 | KIAA0586 | 26166481, 26026149, 26386247, 26096313, 28497568, 26386044, 26437029 |
| SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY | C3810175 | IFT172 | 24140113 |
| KRTCAP3 | |||
| SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY | C4310718 | IFT52 | 31042281, 27466190, 26880018, 30242358 |
| SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY | C4310724 | DYNC2LI1 | 26077881, 26130459 |
| SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY | C3809691 | DYNC2I1 | 23910462, 25492405, 26874042, 29271569 |
| SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY | C3810200 | DYNC2I2 | 24183451, 24183449 |
| SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY | C4225378 | CEP120 | 25361962, 29847808, 27208211 |
| SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY | C4479416 | DYNLT2B | 28475963, 26044572, 25830415 |