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
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563
C4553743 Spasticity, CTCAE phenotype Finding 476
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 426
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 413
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 305
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 295
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 288
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 246
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C1963165 Malabsorption, CTCAE phenotype Finding 175
C0409348 Flexion contracture of proximal interphalangeal joint phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 168
C1855285 Protruding ear phenotype Finding Abnormality of the ear 152
C1858430 Death in infancy phenotype Finding 146
C1963094 Dry Skin, CTCAE phenotype Finding 137
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 130
C0241355 Small testicle phenotype Finding Abnormality of the genitourinary system 129
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 129
C3279222 Aplasia/Hypoplasia of the cerebellum phenotype Finding Abnormality of the nervous system 116
C1837770 Sparse hair phenotype Finding Abnormality of the integument 112