CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0000786 Spontaneous abortion phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 188 0
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 94 37
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
C0001339 Acute pancreatitis disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 435 51
C0001342 Acute periodontitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 130 49
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1183 103
C0001486 Adenovirus Infections group Infections Disease or Syndrome 145 0
C0001723 Affective Disorders, Psychotic group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 17 10
C0001815 Primary Myelofibrosis disease Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 282 29
C0001973 Alcoholic Intoxication, Chronic disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 577 441
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 491 375
C0002171 Alopecia Areata disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 114 54
C0002390 Extrinsic allergic alveolitis group Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system 65 2
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 694 93
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0002873 Anemia of chronic disease phenotype Hemic and Lymphatic Diseases Disease or Syndrome 100 1
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 340 11
C0002962 Angina Pectoris phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Sign or Symptom Abnormality of the cardiovascular system 139 65
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 242 10
C0003165 Anthracosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 65 37
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1048 287
C0003469 Anxiety Disorders group Mental Disorders Mental or Behavioral Dysfunction disease of mental health 840 163