CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0020538 Hypertensive disease group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 284
C0035126 Reperfusion Injury disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Injury or Poisoning 229
C0027051 Myocardial Infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 178
C0027055 Myocardial Reperfusion Injury phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Pathologic Function 161
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 158
C0020542 Pulmonary Hypertension phenotype Respiratory Tract Diseases Pathologic Function disease of anatomical entity 104
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 75
C0020541 Portal Hypertension disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the cardiovascular system 36
C0018776 Hearing Loss, Central disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity 9
C0018780 Hearing Loss, High-Frequency disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 9
C0018784 Sensorineural Hearing Loss (disorder) disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the ear 9
C0600452 Hepatopulmonary Syndrome disease Digestive System Diseases; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 8
C0024312 Lymphopenia disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of blood and blood-forming tissues 5
C0019569 Hirschsprung Disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the nervous system 2
C0025160 Megacolon phenotype Digestive System Diseases Pathologic Function disease of anatomical entity Abnormality of the digestive system; Abnormality of the nervous system 1
C0345240 Total intestinal aganglionosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality Abnormality of the digestive system; Abnormality of the nervous system 1
C1848519 WAARDENBURG SYNDROME, TYPE 4A disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome genetic disease 1