Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0005890 Body Height phenotype Organism Attribute 1903
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
C0432072 Dysmorphic features disease Congenital Abnormality 335
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 284
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
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 189
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 181
C1854113 Prominent nasal bridge phenotype Finding Abnormality of head or neck 180
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
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
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C1858430 Death in infancy phenotype Finding 146
C1849089 Broad forehead phenotype Finding Abnormality of head or neck 133
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 130
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 129