Spondyloepimetaphyseal dysplasia
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Spondyloepimetaphyseal disorder | C0432211 | ACAN | |
| BGN | |||
| COL2A1 | |||
| KIF22 | |||
| MATN3 | |||
| MMP13 | |||
| TONSL | |||
| DDR2 | |||
| PAPSS2 | |||
| EXOC6B | |||
| NANS | |||
| IARS2 | |||
| DDRGK1 | |||
| B3GALT6 | |||
| Spondyloepimetaphyseal Dysplasia, Missouri Type | C1865832, 93356 | MMP13 | 19615667, 24648384, 16167086 |
| Spondyloepimetaphyseal dysplasia, Genevieve type | C1864872, 168454 | TRIM14 | |
| NANS | 27213289 | ||
| Spondyloepimetaphyseal Dysplasia, Shohat Type | C1865185, 93352 | DDRGK1 | 28263186 |
| Spondyloepimetaphyseal dysplasia congenita, Strudwick type | 93346 | COL2A1 |