Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0432470 46, XY female disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome 25 5
C3536715 AA amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome 38 10
C1291077 Abdominal bloating phenotype Digestive System Diseases Sign or Symptom 10 0
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0000822 Abortion, Tubal phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0
C0000833 Abscess phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1
C0278134 Absence of sensation phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 111 5
C4316903 Absence Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 205 8
C0001075 Achlorhydria phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Pathologic Function 5 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
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
C0267026 Actinic cheilitis disease Stomatognathic Diseases Disease or Syndrome disease of cellular proliferation 64 8
C0333233 Active Hyperemia phenotype Cardiovascular Diseases Pathologic Function 13 0
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
C0701807 Acute anterior uveitis disease Eye Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of the eye 90 30
C0751956 Acute Cerebrovascular Accidents disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 155 2
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
C2118460 Acute colitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the immune system 83 0
C0546126 Acute Confusional Senile Dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction 99 0
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 440 139
C1306587 Acute encephalopathy disease Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 31 3
C0340044 Acute exacerbation of chronic obstructive airways disease phenotype Respiratory Tract Diseases Disease or Syndrome 63 1