Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1269955 Tumor Cell Invasion phenotype Neoplastic Process 6626 169
C4722085 Malignant neoplasm of colon and/or rectum disease Neoplastic Process 3669 502
C0005890 Body Height phenotype Organism Attribute 1903 3972
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C1611743 Familial (FPAH) disease Disease or Syndrome 1075 276
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C3854222 Human immunodeficiency virus (HIV) II infection category B1 disease Disease or Syndrome 985 56
C0751606 Adult Acute Lymphocytic Leukemia disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 860 154
C0856169 Endothelial dysfunction phenotype Disease or Syndrome 716 25
C2363741 HIV-1 infection disease Disease or Syndrome 695 94
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681 1322
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489 64
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 473 62
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429 29
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391 49
C0236734 Caffeine related disorders group Mental or Behavioral Dysfunction 360 56
C1861403 Variable expressivity phenotype Finding 319 0
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306 12
C4551915 Gait Disturbance, CTCAE phenotype Finding 299 0
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 264 1463
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 244 40
C0241005 Creatine phosphokinase serum increased phenotype Finding genetic disease; disease of metabolism Abnormality of metabolism/homeostasis 228 43
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228 0
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215 5