Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0005890 Body Height phenotype Organism Attribute 1903
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1458
C2985280 Blood Protein Measurement phenotype Laboratory Procedure 1156
C0349588 Short stature phenotype Finding Growth abnormality 1122
C1305855 Body mass index phenotype Clinical Attribute 1014
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0596887 mathematical ability phenotype Mental Process 854
C0871470 Systolic Pressure phenotype Clinical Attribute 843
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 641
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 610
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 593
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 593
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578
C0205682 Waist-Hip Ratio phenotype Organism Attribute 565
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 483
C4553743 Spasticity, CTCAE phenotype Finding 476