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
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C4553743 Spasticity, CTCAE phenotype Finding 476
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 456
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 432
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
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 386
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 374
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 295
C0541764 Delayed bone age phenotype Finding Abnormality of the skeletal system 291
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
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 260
C1854114 Short nose phenotype Finding Abnormality of head or neck 249
C4551583 Cerebral cortical atrophy disease Disease or Syndrome Abnormality of the nervous system 240
C1853242 Midface retrusion phenotype Finding Abnormality of head or neck 228
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 212
C1857486 Low-set, posteriorly rotated ears phenotype Finding Abnormality of the ear 212
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 207