Smith-lemli-opitz syndrome

Disease Term Disease ID Gene Symbol Classification References Source
SMITH-LEMLI-OPITZ SYNDROME
C0175694270400818MESH:D019082MONDO:0010035
CLCN1 Causal — Disgenet
DHCR7 Causal
11254748 12818773 12906934 14659996 15896653 16446309 16814115 17994283 19365639 27097157 29698737 20301322
CTD ClinGen ClinVar Disgenet GenCC HPO Orphanet
TSHR Causal — Disgenet
NADSYN1 Unknown — Disgenet