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
C0014772 Red Blood Cell Count measurement phenotype Laboratory Procedure 717
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 641
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 426
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 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
C4551915 Gait Disturbance, CTCAE phenotype Finding 299
C0428472 Serum HDL cholesterol measurement phenotype Laboratory Procedure 283
C0239676 High forehead phenotype Finding Abnormality of head or neck 211
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 181
C1963165 Malabsorption, CTCAE phenotype Finding 175
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C1858430 Death in infancy phenotype Finding 146
C4552810 Irritability, CTCAE phenotype Finding 139
C1849089 Broad forehead phenotype Finding Abnormality of head or neck 133
C3279222 Aplasia/Hypoplasia of the cerebellum phenotype Finding Abnormality of the nervous system 116
C0240310 Hypoplasia of the maxilla disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 112
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 112
C1853237 Isolated cases phenotype Finding 111