Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT OMODYSPLASIA FZD2 Causal ClinVar GenCC Orphanet
AUTOSOMAL RECESSIVE OMODYSPLASIA GPC6 Causal ClinVar GWAS catalog Orphanet
OMODYSPLASIA GPC6 Unknown Disgenet
OMODYSPLASIA 1 GPC6 Unknown HPO
OMODYSPLASIA 2 FZD2 Unknown Disgenet HPO
OMODYSPLASIA TYPE 1 GPC6 Unknown CTD Disgenet