CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0231557 Abnormal bone formation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Acquired Abnormality 12 1
C0000833 Abscess phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 95 1
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 46 15
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 117 7
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 79 7
C0271907 Acquired aplastic anemia disease Hemic and Lymphatic Diseases Disease or Syndrome 64 12
C0596032 acquired immunodeficiency disease Immune System Diseases Disease or Syndrome 6 0
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 216 14
C0151332 Active tuberculosis disease Infections Disease or Syndrome 116 25
C0001306 Acute alcoholic liver disease disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome disease of anatomical entity 20 0
C0701807 Acute anterior uveitis disease Eye Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the eye 90 30
C0001311 Acute bronchiolitis disease Infections; Respiratory Tract Diseases Disease or Syndrome 11 3
C0742343 Acute Chest Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 405 135
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 385 97
C0263221 Acute eczema disease Skin and Connective Tissue Diseases Disease or Syndrome 2 0
C0340044 Acute exacerbation of chronic obstructive airways disease phenotype Respiratory Tract Diseases Disease or Syndrome 63 1
C0877055 Acute Generalized Exanthematous Pustulosis disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders Disease or Syndrome 7 0
C0856825 Acute GVH disease disease Immune System Diseases Disease or Syndrome 294 49
C0275518 Acute infectious disease group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5
C0023465 Acute monocytic leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 612 22
C0155626 Acute myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 765 118
C0155686 Acute myocarditis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 33 0
C0001339 Acute pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 426 51
C0740766 Acute pneumonia disease Infections; Respiratory Tract Diseases Disease or Syndrome 29 0
C0023487 Acute Promyelocytic Leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 629 21