Disease Term Disease ID Gene Symbol Classification References Source
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR DPH1 Causal ClinGen GWAS catalog
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 1 DPH1 Causal CTD ClinVar HPO Orphanet
DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR 2 DPH2 Causal ClinVar Disgenet HPO