CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 3 28
C0702169 Acrania disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 28 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 46 0
C0857501 Acute schizophrenia disease Mental or Behavioral Dysfunction 3 0
C0162309 Adrenoleukodystrophy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 7 89
C1527231 Adrenomyeloneuropathy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity 6 0
C0023493 Adult T-Cell Lymphoma/Leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 31 0
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 63 1019
C0002152 Alloxan Diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 108 0
C0002874 Aplastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 7 15
C0348890 Aplastic anemia, idiopathic disease Hemic and Lymphatic Diseases Disease or Syndrome 5 0
C0003615 Appendicitis disease Digestive System Diseases; Infections Disease or Syndrome disease of anatomical entity 2 1
C0003865 Arthritis, Adjuvant-Induced disease Musculoskeletal Diseases Experimental Model of Disease 40 0
C1692886 Arthritis, Bacterial group Infections; Musculoskeletal Diseases Disease or Syndrome 2 0
C0971858 Arthritis, Collagen-Induced disease Musculoskeletal Diseases Experimental Model of Disease 40 0
C0993582 Arthritis, Experimental disease Musculoskeletal Diseases Experimental Model of Disease 40 0
C0003869 Arthritis, Infectious group Infections; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 2 0
C3891815 Arthritis, Suppurative disease Infections; Musculoskeletal Diseases Disease or Syndrome 2 0
C0003875 Arthritis, Viral disease Infections; Musculoskeletal Diseases Disease or Syndrome 2 0
C1563937 Atherogenesis phenotype Cardiovascular Diseases Pathologic Function 59 0
C0004153 Atherosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 59 11
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 261 181
C0241910 Autoimmune Chronic Hepatitis disease Digestive System Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity 17 3
C0004364 Autoimmune Diseases group Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 42 231
C0005586 Bipolar Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 477 552