Disease Term Disease ID Gene Symbol References
CRANIOOSTEOARTHROPATHY C2678439 HPGD 18500342, 21438135, 25526675
SLCO2A1 22197487, 22331663
Reginato Schiapachasse syndrome C2930922 HPGD 18500342, 21438135
Cranio-osteoarthropathy 1525 HPGD