Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0042769 Virus Diseases group Infections Disease or Syndrome disease by infectious agent 1471 42
C0040034 Thrombocytopenia phenotype Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 592 110
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 384 96
C0032181 Platelet Count measurement phenotype Laboratory Procedure 265 457
C0206161 Reticulocyte count (procedure) phenotype Laboratory Procedure 234 474
C3828530 Platelet Component Distribution Width Measurement phenotype Laboratory Procedure 134 200
C0423798 Increased tendency to bruise phenotype Wounds and Injuries Finding Abnormality of the integument; Abnormality of blood and blood-forming tissues; Abnormality of the cardiovascular system 133 14
C0014591 Epistaxis phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Pathologic Function Abnormality of blood and blood-forming tissues; Abnormality of head or neck 82 4
C1458140 Bleeding tendency phenotype Hemic and Lymphatic Diseases Pathologic Function disease of anatomical entity Abnormality of blood and blood-forming tissues 71 14
C0740380 Varicella zoster disease Disease or Syndrome 71 2
C0005818 Blood Platelet Disorders group Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 59 5
C0025323 Menorrhagia phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of the genitourinary system; Abnormality of the endocrine system; Abnormality of blood and blood-forming tissues 34 6
C4310797 BLEEDING DISORDER, PLATELET-TYPE, 20 disease Disease or Syndrome genetic disease; disease of anatomical entity 1 4