Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3888018 Congenital Hyperinsulinism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 62 27
C1864903 Hyperinsulinemic hypoglycemia disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 52 6
C0587248 Costello syndrome (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease 50 24
C1968782 MYOPATHY, CONGENITAL, WITH EXCESS OF MUSCLE SPINDLES disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome genetic disease 1 4