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
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 456
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 432
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 414
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 409
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 407
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 394
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 374
C1865014 Long philtrum phenotype Finding Abnormality of head or neck 277
C0521525 Short neck phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 275
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228
C0034935 Babinski Reflex phenotype Finding Abnormality of the nervous system 210
C0239676 High forehead phenotype Finding Abnormality of head or neck 205
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 203
C1858085 Malar flattening disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 185
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 179
C1836047 Long face phenotype Finding Abnormality of head or neck 175
C1854113 Prominent nasal bridge phenotype Finding Abnormality of head or neck 175
C1845977 X- linked recessive phenotype Finding 172
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 164
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 161
C1855285 Protruding ear phenotype Finding Abnormality of the ear 149
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 145