Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1458
C0349588 Short stature phenotype Finding Growth abnormality 1122
C2919142 Short Stature, CTCAE phenotype Finding 1005
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C4553743 Spasticity, CTCAE phenotype Finding 476
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 426
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 413
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 338
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 295
C0740279 Cerebellar atrophy disease Disease or Syndrome Abnormality of the nervous system 271
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 246
C1855285 Protruding ear phenotype Finding Abnormality of the ear 152
C1963094 Dry Skin, CTCAE phenotype Finding 137
C0241355 Small testicle phenotype Finding Abnormality of the genitourinary system 129
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 129
C1962966 Retinopathy, CTCAE phenotype Finding 108
C0424711 Orbital separation diminished phenotype Finding Abnormality of the eye 89
C4553962 Hyperkeratosis, CTCAE phenotype Finding 87
C1857042 Sparse scalp hair phenotype Finding Abnormality of the integument; Abnormality of head or neck 85
C0234133 Extrapyramidal sign phenotype Sign or Symptom Abnormality of the nervous system 79
C0423757 Thin skin phenotype Finding Abnormality of the integument 77
C0919677 Protein C measurement phenotype Laboratory Procedure 62
C1168438 Protein C antigen measurement phenotype Laboratory Procedure 62
C0277959 Coarse hair phenotype Finding Abnormality of the integument 60