Source: RGD

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 22
C0022104 Irritable Bowel Syndrome disease Digestive System Diseases Disease or Syndrome syndrome 7
C0035400 Reye Syndrome disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome syndrome 1
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 12
C0848558 Hypospadias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 6
C0265706 Gastroschisis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome physical disorder Abnormality of the digestive system 3
C0152427 Polydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality physical disorder Abnormality of limbs; Abnormality of the skeletal system 1
C0220697 POLYDACTYLY, POSTAXIAL disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome physical disorder Abnormality of limbs; Abnormality of the skeletal system 1
C0524620 Metabolic Syndrome X disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; syndrome 42
C0162359 Christ-Siemens-Touraine syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; syndrome Abnormality of the integument 1
C0265215 Meckel-Gruber syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome genetic disease; syndrome 1
C1846357 Meckel syndrome type 3 disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome genetic disease; syndrome 1
C0019202 Hepatolenticular Degeneration disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 6
C0029422 Osteochondrodysplasias group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity Abnormality of the skeletal system 2
C0205710 Alpers Syndrome (disorder) disease Immune System Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity 1
C2750440 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 1 disease Finding genetic disease; disease of metabolism 57
C2750441 LIVER DISEASE, ALCOHOLIC, SUSCEPTIBILITY TO, 1 phenotype Finding genetic disease; disease of metabolism 57
C3150651 FATTY LIVER DISEASE, NONALCOHOLIC, SUSCEPTIBILITY TO, 2 phenotype Finding genetic disease; disease of metabolism 57
C0015696 Fatty Liver, Alcoholic disease Digestive System Diseases; Chemically-Induced Disorders Disease or Syndrome genetic disease; disease of metabolism 47
C0015695 Fatty Liver disease Digestive System Diseases Disease or Syndrome genetic disease; disease of metabolism 39
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 32
C0020476 Hyperlipoproteinemias disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 28
C0020473 Hyperlipidemia disease Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 27
C0598608 Hyperhomocysteinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 22
C0020433 Hyperbilirubinemia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome genetic disease; disease of metabolism 8