Multiple epiphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Multiple Epiphyseal Dysplasia | C0026760 | BCL2 | 17954590 |
| COL2A1 | 8486375 | ||
| COL9A1 | 11565064, 16691584, 16909383 | ||
| COL9A2 | 20358595 | ||
| COL9A3 | 15551337 | ||
| COL11A1 | 19638309 | ||
| SLC26A2 | 21922596 | ||
| FLNA | 12612583 | ||
| FLT1 | 17954590 | ||
| GLB1 | 817853 | ||
| HSPG2 | 10545953, 11279527 | ||
| KDR | 17954590 | ||
| MATN3 | 20358595, 16287128 | ||
| PEX7 | |||
| PHYH | |||
| TRAPPC2 | |||
| VEGFA | 24235232 | ||
| EIF2AK3 | |||
| CHST3 | 30200136 | ||
| ADAMTSL2 | 18677313 | ||
| DLL3 | 11146471 | ||
| SOST | |||
| TRPV4 | 18587396 | ||
| KIF7 | |||
| Multiple epiphyseal dysplasia due to collagen 9 anomaly | 166002 | COL9A1 | |
| COL9A2 | |||
| COL9A3 | |||
| Multiple epiphyseal dysplasia type 1 | C4275061, 93308 | COMP | |
| Multiple epiphyseal dysplasia type 4 | 93307 | SLC26A2 | |
| Multiple epiphyseal dysplasia type 5 | C4275060, 93311 | MATN3 | |
| Multiple epiphyseal dysplasia, Al-Gazali type | 166024 | KIF7 | |
| Multiple epiphyseal dysplasia, Beighton type | 166011 | COL2A1 |