CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 29
C0085547 Phenylketonuria, Maternal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C0031485 Phenylketonurias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C1838100 MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 3 (disorder) disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 1