Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0685775
Disease: Congenital absence of jaw
Congenital absence of jaw
0.010 GeneticVariation disease BEFREE While single heterozygous mice are normal, double heterozygous embryos (Irf6 <sup>+/-</sup> ; Twist1 <sup>+/-</sup> ) can have severe mandibular hypoplasia that leads to agnathia and cleft palate at birth. 28769044 2017