Disease Term Disease ID Gene Symbol References
Mesomelia C0549306 ACAN
DHCR7
DVL1
DVL3
FGFR3
LBR 29068549
NEK1
TONSL
NOTCH2
ROR2
PTH1R
RMRP
SHOX
TBX15
WNT5A
TRIP11
EIF4A3
GPC6
CILK1 19185282
SIK3
DONSON
WDR35
IFT80
NXN
CREB3L1