CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0267663 Congenital secretory diarrhea, sodium type (disorder) disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Congenital Abnormality genetic disease; disease of anatomical entity 2 5