Pyle metaphyseal dysplasia

Disease Term Disease ID Gene Symbol References
Pyle metaphyseal dysplasia C0265294 NKX3-2
RUNX2
CDKN1C
COL2A1
EXTL3
GJA1
POLE
RMRP
SFRP4 27355534, 22387305, 28100910
TGFB1
TRIP11
LONP1
POP1
EPDR1
UFSP2
TMEM165