Source: HPO

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 1346
C0349588 Short stature phenotype Finding Growth abnormality 1005
C2919142 Short Stature, CTCAE phenotype Finding 1005
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 414
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 409
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 394
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 299
C1854114 Short nose phenotype Finding Abnormality of head or neck 249
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 185
C4025790 Specific learning disability disease Mental or Behavioral Dysfunction Abnormality of the nervous system 155
C0239174 Late tooth eruption phenotype Finding Abnormality of head or neck 135
C0426429 Broad nasal tip phenotype Finding Abnormality of head or neck 120
C1842876 Depressed nasal ridge phenotype Finding Abnormality of head or neck 116
C0240310 Hypoplasia of the maxilla disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 109
C1843108 Short palm phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 101
C1839326 Abnormal form of the vertebral bodies phenotype Finding Abnormality of the skeletal system 89
C0239479 Round face phenotype Finding Abnormality of head or neck 87
C1963060 Agitation, CTCAE 3.0 phenotype Finding 87
C4552855 Agitation, CTCAE 5.0 phenotype Finding 87
C0240379 Open mouth (finding) phenotype Finding Abnormality of head or neck 86
C0423757 Thin skin phenotype Finding Abnormality of the integument 76
C3714796 Isolated somatotropin deficiency disease Disease or Syndrome Abnormality of the nervous system; Abnormality of the endocrine system 75
C1837098 Easy fatigability phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 69