Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0432072 Dysmorphic features disease Congenital Abnormality 335 611
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 303 505
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 56 64
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 29 30
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 26 29
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 23 25
C1842364 Central hypotonia phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 23 25
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 21 23
C1854114 Short nose phenotype Finding Abnormality of head or neck 20 23
C1827524 Wide spaced nipples phenotype Finding Abnormality of the breast 19 19
C1837404 High, narrow palate phenotype Finding Abnormality of head or neck 19 21
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 17 19
C0239676 High forehead phenotype Finding Abnormality of head or neck 14 17
C1836543 Thick vermilion border phenotype Finding Abnormality of head or neck 12 15
C2237142 Moderate global developmental delay phenotype Finding Abnormality of the nervous system 12 21
C1836047 Long face phenotype Finding Abnormality of head or neck 11 12
C0578038 Thin lips phenotype Finding Abnormality of head or neck 8 8
C1837770 Sparse hair phenotype Finding Abnormality of the integument 8 9
C3150613 Long toe phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 8 8
C4282407 Sparse and thin eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 8 8