Source: GENOMICS_ENGLAND

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0158981 Neonatal diabetes mellitus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism 25
C3888631 Monogenic diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome 16
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 14
C1833104 DIABETES MELLITUS, PERMANENT NEONATAL disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 5
C1835887 DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism 1
C2931832 Hyperinsulinemic hypoglycemia, familial, 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0271714 Hypoglycemia, leucine-induced disease Nutritional and Metabolic Diseases Disease or Syndrome 1