Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 133 505
C4707243 Familial thoracic aortic aneurysm and aortic dissection disease Disease or Syndrome disease of anatomical entity 53 442
C3860213 Autoinflammatory disorder disease Disease or Syndrome 35 0
C4228778 Abnormality of radial ray phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 33 0
C1112155 Hereditary non-polyposis colorectal cancer syndrome disease Congenital Abnormality genetic disease 27 0
C4521256 Glomerulopathy Assessment phenotype Diagnostic Procedure 23 0
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 18 62
C1855710 Bone marrow hypocellularity phenotype Finding Abnormality of blood and blood-forming tissues 18 5
C1150929 2-oxo-hept-3-ene-1,7-dioate hydratase activity phenotype Molecular Function 14 0
C0369183 Erythrocyte Mean Corpuscular Hemoglobin Test phenotype Laboratory Procedure 13 0
C1261502 Finding of Mean Corpuscular Hemoglobin phenotype Finding 13 1206
C1861063 TOBACCO ADDICTION, SUSCEPTIBILITY TO (finding) phenotype Finding 12 0
C3160718 PARKINSON DISEASE, LATE-ONSET disease Disease or Syndrome disease of anatomical entity 12 29
C4082304 Oligodontia disease Congenital Abnormality disease of anatomical entity Abnormality of head or neck 12 16
C0337443 Sodium measurement phenotype Laboratory Procedure 11 69
C1879645 Adverse Event by CTCAE Category phenotype Finding 11 0
C3496069 cocaine use disease Mental or Behavioral Dysfunction 11 0
C4510744 46,XY partial gonadal dysgenesis disease Disease or Syndrome 11 0
C0268363 Osteogenesis imperfecta type IV (disorder) disease Disease or Syndrome; Congenital Abnormality genetic disease; disease of anatomical entity 10 59
C0349588 Short stature phenotype Finding Growth abnormality 10 292
C1834752 MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) disease Finding 10 3
C1868683 B-CELL MALIGNANCY, LOW-GRADE disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation 10 0
C2919142 Short Stature, CTCAE phenotype Finding 10 0
C1167664 Situs ambiguous disease Congenital Abnormality 9 0
C3266101 22q11 partial monosomy syndrome disease Disease or Syndrome 9 0