CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0003873 Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 282 1613
C0010068 Coronary heart disease disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 166 388
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 143 477
C1527304 Allergic Reaction phenotype Immune System Diseases Pathologic Function disease of anatomical entity 55 819
C0019163 Hepatitis B disease Digestive System Diseases; Infections Disease or Syndrome disease by infectious agent 47 265
C0007570 Celiac Disease disease Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Abnormality of the immune system 45 109
C0524587 Mean Corpuscular Volume (result) phenotype Laboratory or Test Result 41 87
C0036421 Systemic Scleroderma disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 40 78
C0019829 Hodgkin Disease disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 23 52
C0149678 Epstein-Barr Virus Infections group Infections Disease or Syndrome 17 54
C0036836 Serum total protein measurement phenotype Laboratory Procedure 4 6
C0152268 Nodular Sclerosis Classical Hodgkin Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 0 1