Disease Term Disease ID Gene Symbol References
Camurati-Engelmann Syndrome C0011989 CA2
GNAS
TBXAS1
TGFB1 12843182, 12493741, 11062463, 10973241, 15103729
TNFSF11
STX16
SOST
IFT122 20493458
TMEM165
Diaphyseal dysplasia C4551852 TBXAS1
TMEM165