Disease Term Disease ID Gene Symbol Classification References Source
BRACHYCEPHALY PTPN11 Causal Disgenet
BCOR Unknown Disgenet
FGFR3 Unknown Disgenet
LRP5 Unknown Disgenet
POGZ Unknown Disgenet
TCF12 Unknown Disgenet
TRHR Unknown Disgenet
TWIST1 Unknown Disgenet
ZIC1 Unknown Disgenet
BRACHYCEPHALY, TRICHOMEGALY, AND DEVELOPMENTAL DELAY RPS23 Causal CTD ClinVar Disgenet GenCC HPO