CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0200635 Lymphocyte Count measurement phenotype Laboratory Procedure 212 258
C0026769 Multiple Sclerosis disease Immune System Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 201 488
C0011854 Diabetes Mellitus, Insulin-Dependent disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 143 477
C0162701 Polysomnography phenotype Diagnostic Procedure 117 247
C1272321 Autoantibody measurement phenotype Laboratory Procedure 26 49
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 14 39