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
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 954
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 942
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
C0015544 Failure to Thrive disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 734
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681
C0021704 Intelligence phenotype Behavior and Behavior Mechanisms Mental Process 645
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 641
C0200638 Eosinophil count procedure phenotype Laboratory Procedure 610
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 609
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 593
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 593
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 590
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 579
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578
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 574