Diaphyseal dysplasia
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 |