Kyphoscoliotic ehlers-danlos syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Ehlers-Danlos syndrome kyphoscoliotic type | C4551497 | PLOD1 | 15666309 |
| EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE, 2 | C3281160 | FKBP14 | 27149304, 22265013, 24677762, 28617417 |
| Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency | 1900 | PLOD1 | |
| Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | 300179 | FKBP14 |