CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0085758 Aganglionosis, Colonic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of the nervous system 36 11