Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.110 Biomarker disease BEFREE Compared with PIGA (phosphatidylinositol glycan anchor biosynthesis class A) deficiency, PIGO deficiency shows characteristic features, such as Hirschsprung disease, brachytelephalangy, and hyperphosphatasia. 28337824 2017
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
0.110 Biomarker disease HPO