CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0018099 Gout disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 114 2275
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 113 2272
C0005893 Body mass index procedure phenotype Diagnostic Procedure 78 231
C0578022 Finding of body mass index phenotype Finding 78 231