Spondyloepiphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Spondyloepiphyseal Dysplasia | C0038015 | ACAN | |
| BCL2 | 17954590 | ||
| COL2A1 | 8486375 | ||
| COL9A1 | 11565064, 16909383 | ||
| COL11A1 | 19638309 | ||
| FLNA | 12612583 | ||
| FLT1 | 17954590 | ||
| GLB1 | 817853 | ||
| HSPG2 | 11279527, 10545953 | ||
| KDR | 17954590 | ||
| RPL10 | |||
| TRAPPC2 | |||
| VEGFA | 24235232 | ||
| MBTPS1 | |||
| CHST3 | 30200136 | ||
| ADAMTSL2 | 18677313 | ||
| DLL3 | 11146471 | ||
| SMARCAL1 | |||
| SOST | |||
| IARS2 | |||
| TRPV4 | 18587396 | ||
| RNU4ATAC | |||
| Spondyloepiphyseal Dysplasia, Kimberley Type | C1842149, 93283 | ACAN | 16080123, 27870580, 24762113 |
| Spondyloepimetaphyseal Dysplasia, Aggrecan Type | C2748544, 171866 | ACAN | 19110214, 27870580 |
| SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE | C4225273, 459051 | COL2A1 | 26183434, 8325895, 1946380, 26420734, 1881905 |
| Spondyloepimetaphyseal Dysplasia, Pakistani Type | C2748515 | PAPSS2 | 23633440, 22791835, 23824674, 19474428, 25594860, 9771708, 9714015 |
| SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE | C3159322, 263482 | TRPV4 | 20503319 |
| SPONDYLOEPIMETAPHYSEAL DYSPLASIA, FADEN-ALKURAYA TYPE | C4225232 | RSPRY1 | 26365341 |
| Spondyloepiphyseal dysplasia, Nishimura type | 163649 | MIR140 | |
| Spondyloepimetaphyseal dysplasia, matrilin-3 type | 156728 | MATN3 | |
| Spondyloepimetaphyseal dysplasia, PAPSS2 type | 93282 | PAPSS2 |