Disease Term Disease ID Gene Symbol References
Spondyloepiphyseal dysplasia congenita 94068 COL2A1
Spondyloepiphyseal dysplasia, congenita C2745959 COL2A1 11746045, 26380986, 21922596, 2543071, 8325895, 2339128, 8423604, 7757086, 10678662, 8019561, 18541977, 26030151, 20513134
TRAPPC2
CHST3