Disease Term Disease ID Gene Symbol References
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 C1866294 DSE 23704329
CHST14 20842734, 26373698, 20533528, 25703627, 26646600, 20004762, 26872206, 27604308, 22581468, 22987394
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 2 C3809845 DSE 23704329, 25703627
Ehlers-Danlos syndrome musculocontractural type C4303787 CHST14
Musculocontractural Ehlers-Danlos syndrome 2953 CHST14
DSE