Disease Term Disease ID Gene Symbol References
Oculopalatoskeletal syndrome C0796059 MASP1 8921412, 17937425, 21258343, 21035106
COLEC11 21258343
3MC syndrome 293843 COLEC10
MASP1
COLEC11
Carnevale syndrome C0796279 MASP1 21258343
COLEC11 28301481, 21258343, 2569826, 25912189