Disease Term Disease ID Gene Symbol Classification References Source
SAETHRE-CHOTZEN SYNDROME FGFR3 Causal Disgenet Orphanet
TWIST1 Causal CTD ClinGen ClinVar Disgenet HPO Orphanet
SAETHRE-CHOTZEN SYNDROME WITH EYELID ANOMALIES TWIST1 Causal CTD Disgenet
SAGITTAL CRANIOSYNOSTOSIS MYH7 Unknown Disgenet