CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0032580 Adenomatous Polyposis Coli disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process genetic disease 600 84
C0011991 Diarrhea phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 446 50
C2751492 AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 74 30