Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C0015934 Fetal Growth Retardation phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Disease or Syndrome Growth abnormality 1037 21
C1608408 Malignant transformation phenotype Neoplastic Process 1027 20
C0015967 Fever phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of metabolism/homeostasis 1021 66
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C0598766 Leukemogenesis disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 996 25
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
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 955 164
C0494165 Secondary malignant neoplasm of liver disease Digestive System Diseases; Neoplasms Neoplastic Process 951 34
C3266262 Multiple Chronic Conditions disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 929 42
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C0023893 Liver Cirrhosis, Experimental disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Experimental Model of Disease 870 0
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 868 68
C1512409 Hepatocarcinogenesis disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 855 24
C0596887 mathematical ability phenotype Mental Process 854 2127
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 845 61
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 842 10
C0022660 Kidney Failure, Acute disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system 826 32