CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 245
C0269102 Endometrioma disease Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity 161
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
C0020649 Hypotension phenotype Cardiovascular Diseases Finding Abnormality of the cardiovascular system 53
C0009241 Cognition Disorders group Mental Disorders Mental or Behavioral Dysfunction 38
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
C0031511 Pheochromocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 16
C1257877 Pheochromocytoma, Extra-Adrenal disease Neoplasms Neoplastic Process Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 16
C0751197 Fulminant Hepatic Failure with Cerebral Edema disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 13
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
C0751198 Hepatic Stupor disease Digestive System Diseases; Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome 13
C0751207 Akinetic-Rigid Variant of Huntington Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12
C0004930 Behavior Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 12
C0376338 Diagnosis, Psychiatric disease Mental Disorders Mental or Behavioral Dysfunction 12
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
C0751208 Juvenile Huntington Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome 12
C0004936 Mental disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 12
C4046029 Mental Disorders, Severe disease Mental Disorders Mental or Behavioral Dysfunction 12
C0033054 Prenatal Exposure Delayed Effects disease Female Urogenital Diseases and Pregnancy Complications Injury or Poisoning 12
C2936476 Chronic Liver Failure disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 4
C0745744 End Stage Liver Disease disease Digestive System Diseases Disease or Syndrome 4