Source: GENOMICS_ENGLAND

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 133
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 53
C3860213 Autoinflammatory disorder disease Disease or Syndrome 35
C4228778 Abnormality of radial ray phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 33
C4521256 Glomerulopathy Assessment phenotype Diagnostic Procedure 23
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 18
C1855710 Bone marrow hypocellularity phenotype Finding Abnormality of blood and blood-forming tissues 18
C1150929 2-oxo-hept-3-ene-1,7-dioate hydratase activity phenotype Molecular Function 14
C0369183 Erythrocyte Mean Corpuscular Hemoglobin Test phenotype Laboratory Procedure 13
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 13
C0337443 Sodium measurement phenotype Laboratory Procedure 11
C1879645 Adverse Event by CTCAE Category phenotype Finding 11
C0349588 Short stature phenotype Finding Growth abnormality 10
C2919142 Short Stature, CTCAE phenotype Finding 10
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 9
C4087273 C3 glomerulopathy disease Disease or Syndrome 9
C2677504 AUTISM, SUSCEPTIBILITY TO, 15 disease Finding 8
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 8
C4225275 MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 disease Disease or Syndrome genetic disease; disease of mental health 8
C4022738 Neurodevelopmental delay phenotype Finding Abnormality of the nervous system 7
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 7
C1832662 MYOCARDIAL INFARCTION, SUSCEPTIBILITY TO phenotype Finding 6
C1842364 Central hypotonia phenotype Finding Abnormality of the nervous system; Abnormality of the musculature 6
C3842001 Adult only phenotype Finding 6
C3888239 HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 1 disease Finding 6