Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
0.110 GeneticVariation disease BEFREE This study demonstrates that recessive PDX1 mutations are a rare but important cause of isolated permanent neonatal diabetes in patients without pancreatic hypoplasia/agenesis. 23320570 2013
CUI: C0266267
Disease: Congenital hypoplasia of pancreas
Congenital hypoplasia of pancreas
0.110 Biomarker disease HPO