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
C0596887 mathematical ability phenotype Mental Process 854
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 641
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 459
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 413
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391
C0432072 Dysmorphic features disease Congenital Abnormality 335
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 288
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C1854114 Short nose phenotype Finding Abnormality of head or neck 265
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 241
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228
C0239676 High forehead phenotype Finding Abnormality of head or neck 211
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
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
C1868571 Highly arched eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 141
C1859778 Postnatal growth retardation phenotype Finding Growth abnormality 121
C1866231 Full cheeks phenotype Finding Abnormality of head or neck 103