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
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 426
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 426
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 413
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391
C0432072 Dysmorphic features disease Congenital Abnormality 335
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
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 284
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 269
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 241
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 223
C0423109 Upward slant of palpebral fissure phenotype Finding Abnormality of head or neck 216
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 211