Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0374997 Helicobacter pylori (H. pylori) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 593 24
C0427460 Red cell distribution width determination phenotype Laboratory Procedure 593 988
C1304746 RDW - Red blood cell distribution width result phenotype Laboratory or Test Result 593 988
C1837461 SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 disease Finding 578 1158
C0278488 Carcinoma breast stage IV disease Neoplastic Process 573 14
C0205682 Waist-Hip Ratio phenotype Organism Attribute 565 1138
C0202236 Triglycerides measurement phenotype Laboratory Procedure 563 1418
C2062441 Influenza A disease Disease or Syndrome 563 19
C0392885 High density lipoprotein measurement phenotype Laboratory Procedure 545 1440
C2938924 Oestrogen receptor positive breast cancer disease Neoplastic Process 510 58
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0239234 Low set ears disease Congenital Abnormality Abnormality of the ear 489 64
C1445957 Serum total cholesterol measurement phenotype Laboratory Procedure 486 1243
C0202117 Low density lipoprotein cholesterol measurement phenotype Laboratory Procedure 483 1142
C4553743 Spasticity, CTCAE phenotype Finding 477 0
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 473 62
C0375023 Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site disease Disease or Syndrome 467 14
C0432072 Dysmorphic features disease Congenital Abnormality 439 617
C0523465 Serum albumin measurement phenotype Laboratory Procedure 433 3282
C0042834 Vital capacity phenotype Clinical Attribute 430 746
C1849367 Nasal bridge wide phenotype Finding Abnormality of head or neck 429 29
C3278923 Dilated ventricles (finding) phenotype Finding Abnormality of the nervous system 427 32
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 426 39
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 417 30
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 407 35