Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027627 Neoplasm Metastasis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6385 327
C0280474 Childhood Glioblastoma disease Neoplasms Neoplastic Process 2527 98
C0041296 Tuberculosis disease Infections Disease or Syndrome 1256 328
C0239946 Fibrosis, Liver disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1179 64
C0280100 Solid Neoplasm phenotype Neoplasms Neoplastic Process 1145 24
C2711227 Steatohepatitis disease Digestive System Diseases Disease or Syndrome Abnormality of the digestive system 1143 75
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 967 579
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47
C0033377 Ptosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 607 12
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 586 53
C0278488 Carcinoma breast stage IV disease Neoplastic Process 573 14
C0003811 Cardiac Arrhythmia phenotype Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 559 111
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
C0853879 Invasive carcinoma of breast disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process 473 21
C4721414 Mantle cell lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process 466 19
C1854301 Motor delay phenotype Mental Disorders Finding Abnormality of the nervous system 384 34
C3806482 Recurrent respiratory infections phenotype Infections; Respiratory Tract Diseases Finding Abnormality of the immune system; Abnormality of the respiratory system 318 7
C0011175 Dehydration phenotype Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 295 6
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 272 36
C0275524 Coinfection phenotype Infections Disease or Syndrome 252 11
C0010200 Coughing phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 235 16