Disease Term Disease ID Gene Symbol References
Congenital hypoplasia of femur C0345375 COL2A1
COL11A1
COL11A2
SLC26A2
FGFR3
FLNB
IHH
PLOD2
TBX15
ZBTB16
GDF5
AGPS
TBX4
POLR3A
PUF60
INPP5E
DDRGK1
ALG12
TAPT1
BHLHA9
RNU4ATAC