Diastrophic dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Diastrophic dysplasia | C0220726 | BBS2 | |
| SLC26A2 | 11241838, 27065010, 11565064, 10482955, 10465113, 8571951, 12525546, 20219950, 25667404, 18925670, 15294877, 15316973, 16642506, 12966518, 11448940, 21077204, 26375458, 8931695, 20525296, 21922596, 8528239, 20592910, 11303514, 24598000, 21077202, 21155763, 9342225 | ||
| KIAA0586 | |||
| TRAPPC3 | |||
| BBS9 | |||
| WDR19 | |||
| TMEM231 | |||
| DYNC2H1 | |||
| CEP290 | |||
| LRRCC1 | |||
| TMEM67 | |||
| BBS5 | |||
| ARL13B | |||
| Diastrophic Dysplasia, Broad Bone-Platyspondylic Variant | C1857255 | SLC26A2 |