Disease Term Disease ID Gene Symbol References
Spade-like hand C0264142 COL2A1
FBN1
GPC4
FGD1
FGFR1
FHL1
GATA1
GPC3
IHH
LBR
PRKAR1A
PTH1R
RPS6KA3
OFD1
RAI1
SPECC1L
DYM
BCOR
PPP2R3C
IFT80
TBL1XR1
ADAMTS10
B3GLCT
ASXL1