Disease Term Disease ID Gene Symbol Classification References Source
BLEPHARO-CHEILO-DONTIC SYNDROME CDH1 Unknown Disgenet
CTNND1 Unknown Disgenet
BLEPHARO-CHEILO-ODONTIC SYNDROME CDH1 Unknown Orphanet
CTNND1 Unknown Orphanet
BLEPHAROCHEILODONTIC SYNDROME CDH1 Unknown GWAS catalog
CTNND1 Unknown GWAS catalog
BLEPHAROCHEILODONTIC SYNDROME 1 CDH1 Causal ClinVar Disgenet GWAS catalog HPO
BLEPHAROCHEILODONTIC SYNDROME 2 CTNND1 Causal ClinGen ClinVar Disgenet GenCC HPO