Disease Term Disease ID Gene Symbol Classification References Source
CONE-ROD SYNAPTIC DISORDER SYNDROME, CONGENITAL NONPROGRESSIVE RIMS2 Causal ClinVar Disgenet HPO
CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE CABP4 Causal CTD ClinVar Disgenet HPO
RIMS2 Causal ClinVar Disgenet