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
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717
C0023508 White Blood Cell Count procedure phenotype Laboratory Procedure 681
C4553743 Spasticity, CTCAE phenotype Finding 476
C0432072 Dysmorphic features disease Congenital Abnormality 335
C1861403 Variable expressivity phenotype Finding 319
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 288
C0034935 Babinski Reflex phenotype Finding Abnormality of the nervous system 218
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211
C0152421 Macrotia disease Congenital Abnormality Abnormality of the ear 188
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
C4025790 Specific learning disability disease Mental or Behavioral Dysfunction Abnormality of the nervous system 164
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160
C0200637 Monocyte count procedure phenotype Laboratory Procedure 139
C0750880 Monocyte count result phenotype Laboratory or Test Result 139
C4552810 Irritability, CTCAE phenotype Finding 139
C1859778 Postnatal growth retardation phenotype Finding Growth abnormality 121
C1849265 Overgrowth phenotype Finding Growth abnormality 102
C0856863 Broad-based gait phenotype Finding Abnormality of the nervous system 75
C1850456 Progressive microcephaly phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 66
C1847514 Postnatal microcephaly phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 60