Source: RGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0020435 Hyperbilirubinemia, Hereditary disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 8
C0020500 Hyperoxaluria disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 5
C0162533 Porphyrias, Hepatic group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 5
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 4
C0016952 Galactosemias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 3
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 3
C0348454 Other hypoparathyroidism disease Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism 3
C3715128 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1 disease Disease or Syndrome genetic disease; disease of metabolism 3
C4048195 Autosomal dominant hypocalcemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 3
C4552089 HYPOCALCEMIA, AUTOSOMAL DOMINANT 1, WITH BARTTER SYNDROME disease Disease or Syndrome genetic disease; disease of metabolism 3
C0022350 Jaundice, Chronic Idiopathic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C0023794 Lipoidosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C0026709 Mucopolysaccharidosis VI disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C0029591 Other disorders of lipoid metabolism disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 2
C0220994 Hyperammonemia phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 2
C0010324 Crigler Najjar syndrome, type 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0012715 Iron Metabolism Disorders group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0017919 Glycogen Storage Disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0017920 Glycogen Storage Disease Type I disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0018995 Hemochromatosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0020445 Hypercholesterolemia, Familial disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0032708 Disorders of Porphyrin Metabolism group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0034345 Pyruvate Dehydrogenase Complex Deficiency Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0043325 Xanthomatosis disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of the integument 1
C0085078 Lysosomal Storage Diseases group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1