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
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
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
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
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
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 282
C1854114 Short nose phenotype Finding Abnormality of head or neck 265
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 246
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 241
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 223
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 181
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 176
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 159
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C1839739 Thick lower lip vermilion phenotype Finding Abnormality of head or neck 145
C1849089 Broad forehead phenotype Finding Abnormality of head or neck 133
C0426429 Broad nasal tip phenotype Finding Abnormality of head or neck 125
C3805574 Increased fracture rate phenotype Finding Abnormality of the skeletal system 123