CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 47
C0001925 Albuminuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 7
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 351
C0038013 Ankylosing spondylitis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 25
C0162871 Aortic Aneurysm, Abdominal disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 28
C0003507 Aortic Valve Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 10
C0003872 Arthritis, Psoriatic disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome syndrome 21
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 230
C0004238 Atrial Fibrillation disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 43
C0004604 Back Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 1
C0004943 Behcet Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 55
C0006287 Bronchopulmonary Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases Disease or Syndrome 14
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 12
C0018800 Cardiomegaly phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Finding Abnormality of the cardiovascular system 36
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 52
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 58
C0007222 Cardiovascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 131
C2937358 Cerebral Hemorrhage phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Pathologic Function Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 17
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 103
C0015674 Chronic Fatigue Syndrome disease Infections; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome syndrome 9
C0024117 Chronic Obstructive Airway Disease disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 113
C0009404 Colorectal Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 606
C0009782 Connective Tissue Diseases group Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 6
C1956346 Coronary Artery Disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 161
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 91