Source: INFERRED

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 1458
C0349588 Short stature phenotype Finding Growth abnormality 1122
C2919142 Short Stature, CTCAE phenotype Finding 1005
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 426
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 413
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391
C0541794 Skeletal muscle atrophy phenotype Pathologic Function Abnormality of the musculature 306
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 305
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 269
C1854114 Short nose phenotype Finding Abnormality of head or neck 265
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 189
C0152421 Macrotia disease Congenital Abnormality Abnormality of the ear 188
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 181
C0431478 Posteriorly rotated ear disease Congenital Abnormality Abnormality of the ear 176
C1963165 Malabsorption, CTCAE phenotype Finding 175
C1845977 X- linked recessive phenotype Finding 172
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
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
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 159
C1855285 Protruding ear phenotype Finding Abnormality of the ear 152
C0239174 Late tooth eruption phenotype Finding Abnormality of head or neck 139