Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0000833 Abscess phenotype Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 96 1
C0000846 Agenesis disease Congenital Abnormality 161 44
C0000880 Acanthamoeba Keratitis disease Infections; Eye Diseases Disease or Syndrome 22 0
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 209 21
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
C0001306 Acute alcoholic liver disease disease Digestive System Diseases; Chemically-Induced Disorders; Mental Disorders Disease or Syndrome disease of anatomical entity 35 0
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
C0001576 Adnexal Diseases group Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome 3 0
C0001622 Adrenal Gland Hyperfunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity 50 0
C0001768 Agammaglobulinemia disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 43 1
C0001883 Airway Obstruction group Respiratory Tract Diseases Disease or Syndrome 110 5
C0001956 Alcohol Use Disorder disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54
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
C0002382 Alveolar Bone Loss disease Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck 101 0
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