Disease Term Disease ID Gene Symbol References
Cerebrooculofacioskeletal Syndrome 1 C0220722 ERCC1 17273966
ERCC2 11443545
ERCC5 24700531
ERCC6 9443879, 19894250, 18784753, 21143350, 11809892, 26620705, 25356239, 26218421, 27004399, 27186691, 7264357
Cerebrooculofacioskeletal Syndrome 2 C1853102 ERCC2 9012405, 11443545
Cerebrooculofacioskeletal Syndrome 3 C1851443 ERCC5 24700531, 9096355
BIVM-ERCC5
CEREBROOCULOFACIOSKELETAL SYNDROME 4 C1853100 ERCC1 23623389, 17273966