Disease Term Disease ID Gene Symbol Classification References Source
COLOBOMATOUS OPTIC DISC, MACULAR ATROPHY, CHORIORETINOPATHY SYNDROME C14ORF39 Unknown Disgenet
SIX6 Unknown Disgenet
COLOBOMATOUS OPTIC DISC-MACULAR ATROPHY-CHORIORETINOPATHY SYNDROME SIX6 Causal ClinVar GenCC Orphanet