Disease Term Disease ID Gene Symbol References
Defect of skull ossification C0432073 RUNX2
EXT2
LBR
LMNA
MPL
NOTCH2
PTCH1
TBCE
TRIP11
FIG4
HDAC6
ZMPSTE24
SEC23A
SLC25A24
PHF21A
VAC14
SLC25A19
ALX4
FAM111A
P3H1
ALG9
ANTXR1
TAPT1