CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0014175 Endometriosis disease Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome disease of anatomical entity Abnormality of the genitourinary system 161
C0030567 Parkinson Disease disease Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 85
C0026848 Myopathy group Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the musculature 28
C1136249 Mental Retardation, X-Linked disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome 23
C0019147 Hepatic Coma disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 13
C0019151 Hepatic Encephalopathy disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 13
C0751197 Fulminant Hepatic Failure with Cerebral Edema disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 13
C0751198 Hepatic Stupor disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 13
C0020179 Huntington Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome disease of anatomical entity 12
C0393574 Huntington Disease, Late Onset disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12
C0751207 Akinetic-Rigid Variant of Huntington Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12
C0751208 Juvenile Huntington Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12
C0745744 End Stage Liver Disease disease Digestive System Diseases Disease or Syndrome 4
C2936476 Chronic Liver Failure disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 4
C0158850 Fetal Malnutrition disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1
C0796275 Brunner Syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; disease of metabolism 1
C1285261 Fetal Nutrition Disorders disease Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 1
C0020649 Hypotension phenotype Cardiovascular Diseases Finding Abnormality of the cardiovascular system 53
C0013409 Dyssocial Behavior phenotype Mental Disorders Individual Behavior 1
C0033054 Prenatal Exposure Delayed Effects disease Female Urogenital Diseases and Pregnancy Complications Injury or Poisoning 12
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 245
C0009241 Cognition Disorders group Mental Disorders Mental or Behavioral Dysfunction 38
C0004930 Behavior Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 12
C0004936 Mental disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 12
C0376338 Diagnosis, Psychiatric disease Mental Disorders Mental or Behavioral Dysfunction 12