Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0005890 Body Height phenotype Organism Attribute 1903
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
C1963184 Nystagmus, CTCAE 3.0 phenotype Finding 779
C4554036 Nystagmus, CTCAE 5.0 phenotype Finding 779
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 641
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 426
C0034935 Babinski Reflex phenotype Finding Abnormality of the nervous system 218
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 212
C4552810 Irritability, CTCAE phenotype Finding 139
C1963094 Dry Skin, CTCAE phenotype Finding 137
C0201657 C-reactive protein measurement phenotype Laboratory Procedure 135
C0375206 Hemiplegia/hemiparesis disease Disease or Syndrome Abnormality of the nervous system 112
C0004368 Autoimmune state phenotype Pathologic Function Abnormality of the immune system 69
C1849097 Loss of ability to walk phenotype Finding Abnormality of the nervous system 37
C0332573 Macule phenotype Finding Abnormality of the integument 31
C4082172 Porencephalic cyst disease Disease or Syndrome Abnormality of the nervous system 27
C1096249 Calcification of the aorta phenotype Pathologic Function Abnormality of the skeletal system; Abnormality of the cardiovascular system 15
C4025579 Large beaked nose disease Anatomical Abnormality Abnormality of head or neck 13
C4021570 Undetectable light- and dark-adapted electroretinogram phenotype Finding Abnormality of the eye 11
C4022769 Small basal ganglia phenotype Finding Abnormality of the nervous system 10
C4023169 Moyamoya phenomenon disease Disease or Syndrome Abnormality of the nervous system; Abnormality of the cardiovascular system 10