Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0730278 Severe nonproliferative diabetic retinopathy disease Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 5 3
C0018023 Nodular Goiter disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 55 12
C1860224 ABLEPHARON-MACROSTOMIA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Stomatognathic Diseases Disease or Syndrome genetic disease; syndrome 41 14
C0018935 Hematocrit procedure phenotype Laboratory Procedure 138 216
C0518015 Hemoglobin measurement phenotype Laboratory Procedure 131 224
C0007847 Malignant tumor of cervix disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1718 245
C4048328 cervical cancer disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 1817 268
C0302592 Cervix carcinoma disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1881 283
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717 1599
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 2723 2387
C0011860 Diabetes Mellitus, Non-Insulin-Dependent disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 3134 2672