Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1112209 Abdominal Infection group Infections Disease or Syndrome 23 1
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 302 18
C0000744 Abetalipoproteinemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 65 19
C1860224 ABLEPHARON-MACROSTOMIA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; syndrome 41 14
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C2132198 Abnormal blistering of the skin phenotype Finding Abnormality of the integument 75 10
C0263634 Abnormal granulation tissue phenotype Skin and Connective Tissue Diseases Sign or Symptom 6 0
C4025758 Abnormal myocardium morphology phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 19 0
C0850715 Abnormality of blood and blood-forming tissues disease Finding Abnormality of blood and blood-forming tissues 23 1
C4021753 Abnormality of the immune system disease Pathologic Function Abnormality of the immune system 34 3
C2673431 Abnormality of the periventricular white matter disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Anatomical Abnormality Abnormality of the nervous system 45 7
C4018871 Abnormality of the respiratory system disease Anatomical Abnormality Abnormality of the respiratory system 16 0
C0000833 Abscess phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1
C0000880 Acanthamoeba Keratitis disease Infections; Eye Diseases Disease or Syndrome 22 0
C1321756 Achalasia disease Disease or Syndrome disease of anatomical entity 40 5
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 209 21
C0206685 Acinar Cell Carcinoma disease Neoplasms Neoplastic Process disease of cellular proliferation 65 0
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 167 11
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 94 37
C2936664 Acquired Hypogammaglobulinemia disease Immune System Diseases Disease or Syndrome disease of anatomical entity 89 4
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
C1333296 Activated B-cell type diffuse large B-cell lymphoma disease Neoplastic Process 39 2
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 35 0
C0699757 Acute alcoholism disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 5 0