CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C2919142 Short Stature, CTCAE phenotype Finding 1010 0
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489 64
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429 29
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 426 39
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 417 30
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407 35
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391 49
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 288 29
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 284 39
C1854114 Short nose phenotype Finding Abnormality of head or neck 265 23
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228 0
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 223 19
C1854113 Prominent nasal bridge phenotype Finding Abnormality of head or neck 180 8
C1845977 X- linked recessive phenotype Finding 172 1
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 7
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 159 25
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151 0
C4551485 Clinodactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 148 18
C1858430 Death in infancy phenotype Finding 146 7
C1849089 Broad forehead phenotype Finding Abnormality of head or neck 133 13
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 129 21
C1848673 Hypoplastic feet phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 129 21
C1866195 Downturned corners of mouth phenotype Anatomical Abnormality Abnormality of head or neck 122 14