CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4528257 Corpuscular Hemoglobin Concentration Mean phenotype Laboratory or Test Result 353 4267
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
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
C0024141 Lupus Erythematosus, Systemic disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system 109 253
C0005893 Body mass index procedure phenotype Diagnostic Procedure 78 231
C0578022 Finding of body mass index phenotype Finding 78 231
C0242379 Malignant neoplasm of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 66 166
C0231921 Pulmonary function phenotype Organ or Tissue Function 41 259
C3160731 Pulmonary function (finding) phenotype Finding 41 259
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 17 28
C0004763 Barrett Esophagus disease Digestive System Diseases; Neoplasms Disease or Syndrome disease of anatomical entity Abnormality of the digestive system; Neoplasm 4 5