Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000735 Abdominal Neoplasms group Neoplasms Neoplastic Process 13 0
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 820 101
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 120 5
C0158784 Accessory skeletal muscle disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality physical disorder 1 0
C0206685 Acinar Cell Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 64 0
C0027859 Acoustic Neuroma disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm; Abnormality of the ear 126 3
C2732979 Acquired long QT syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome 14 8
C0022602 Actinic keratosis disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of cellular proliferation Abnormality of the integument; Neoplasm 132 8
C4285730 Activated PI3 kinase delta syndrome disease Disease or Syndrome 7 0
C3714976 ACTIVATED PI3K-DELTA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 9 3
C0151332 Active tuberculosis disease Infections Disease or Syndrome 116 25
C2118460 Acute colitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the immune system 83 0
C0023440 Acute Erythroblastic Leukemia disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process 289 4
C0340044 Acute exacerbation of chronic obstructive airways disease phenotype Respiratory Tract Diseases Disease or Syndrome 63 1
C4041147 Acute exacerbation of chronic obstructive bronchitis disease Infections; Respiratory Tract Diseases Disease or Syndrome 5 0
C0085669 Acute leukemia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 602 50
C0023449 Acute lymphocytic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1289 211
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
C4528668 Acute myeloid leukaemia refractory disease Neoplasms Neoplastic Process 58 0
C0155626 Acute myocardial infarction disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 765 118
C0746731 Acute myocardial ischemia disease Cardiovascular Diseases Disease or Syndrome 32 2
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
C0748355 Acute respiratory distress disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Disease or Syndrome 147 6