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
C0489786 Height phenotype Organism Attribute 249 517
C2931822 Nasopharyngeal carcinoma disease Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 89 168
C0006142 Malignant neoplasm of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 82 223
C0008312 Primary biliary cirrhosis disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 72 561
C0376358 Malignant neoplasm of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 72 177
C0032181 Platelet Count measurement phenotype Laboratory Procedure 53 65
C0242383 Age related macular degeneration disease Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity 38 279
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 8 61