Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 149 2
C0275518 Acute infectious disease group Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome 198 5
C0085669 Acute leukemia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 639 50
C0339901 Acute respiratory infections group Infections; Respiratory Tract Diseases Disease or Syndrome 35 0
C0278878 Adult Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2528 98
C0237123 Alcohol or Other Drugs use disease Mental or Behavioral Dysfunction 108 21
C3662483 Allergic sensitization disease Disease or Syndrome 85 26
C0740919 Allergy to grass pollen disease Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome 17 0
C0002792 anaphylaxis phenotype Immune System Diseases Disease or Syndrome Abnormality of the immune system 180 4
C0003175 Anthrax disease disease Infections Disease or Syndrome disease by infectious agent 66 3
C0002874 Aplastic Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 238 30
C0349788 Arrhythmogenic Right Ventricular Dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome; Congenital Abnormality disease of anatomical entity 82 136
C0004096 Asthma disease Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 2096 1536
C0004610 Bacteremia disease Pathological Conditions, Signs and Symptoms; Infections Disease or Syndrome Abnormality of metabolism/homeostasis 233 7
C0005283 beta Thalassemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease 198 103
C0472767 Beta thalassemia intermedia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 37 12
C3841475 beta^+^ Thalassemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Disease or Syndrome 156 44
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C4732730 Blood spots disease Disease or Syndrome Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 117 0
C0152244 Bone Cysts, Aneurysmal disease Neoplasms; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 79 5
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 6776 2793
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 497 70
C1843057 Calf muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 46 5
C0278488 Carcinoma breast stage IV disease Neoplastic Process 573 14
C0007125 Carcinoma, Ehrlich Tumor disease Neoplasms Neoplastic Process; Experimental Model of Disease disease of anatomical entity; disease of cellular proliferation 30 0