Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0240912 Vertical Talus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 69 20
C1861172 Venous Thromboembolism phenotype Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 378 408
C0600502 Vascular Hemostatic Disorders group Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 7 1
C1378511 Undifferentiated leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 120 2
C0178874 Tumor Progression phenotype Pathological Conditions, Signs and Symptoms Neoplastic Process 3865 72
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C0040997 Trigeminal Neuralgia disease Nervous System Diseases; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 107 1
C0014518 Toxic Epidermal Necrolysis disease Skin and Connective Tissue Diseases; Immune System Diseases; Chemically-Induced Disorders; Stomatognathic Diseases Disease or Syndrome disease of anatomical entity 143 29
C0040100 Thymoma disease Neoplasms; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Abnormality of the immune system; Neoplasm; Abnormality of the cardiovascular system 291 20
C0151945 Thrombosis of cerebral veins disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 35 11
C2584620 Thrombophilia, hereditary disease Hemic and Lymphatic Diseases Disease or Syndrome 17 9
C0398623 Thrombophilia disease Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of blood and blood-forming tissues 161 43
C0836924 Thrombocytosis disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 93 12
C0272286 Thrombocytopenia due to platelet alloimmunization disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 111 7
C0040028 Thrombocythemia, Essential disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 220 37
C3281125 THROMBOCYTHEMIA 3 disease Disease or Syndrome disease of anatomical entity; disease of cellular proliferation 1 1
C0271979 Thalassemia Intermedia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 53 8
C4755296 Susceptibility to viral and mycobacterial infection disease Disease or Syndrome 11 3
C0039240 Supraventricular tachycardia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 50 7
C0038525 Subarachnoid Hemorrhage disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 501 26
C0014122 Subacute Bacterial Endocarditis disease Infections; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 12 1
C0038002 Splenomegaly phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 345 19
C4022560 Splanchnic vein thrombosis disease Cardiovascular Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 15 2
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C0036690 Septicemia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of the immune system 1285 141