Disease Term Disease ID Gene Symbol Classification References Source
CRANIOFRONTONASAL DYSPLASIA EDA Unknown CTD Disgenet
EFNB1 Unknown CTD Disgenet Orphanet
OPHN1 Unknown CTD Disgenet
PJA1 Unknown CTD Disgenet
CRANIOFRONTONASAL SYNDROME EFNB1 Causal ClinGen ClinVar GenCC HPO