Disease Term Disease ID Gene Symbol References
Cole Carpenter syndrome C1862178 P4HB 25683117
SEC24D 25683121
Cole-Carpenter syndrome 2050 P4HB
SEC24D
COLE-CARPENTER SYNDROME 1 C4317154 P4HB 25683117, 29384951
COLE-CARPENTER SYNDROME 2 C4225382 SEC24D 25683121, 27942778