Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 878 124
C0332853 Anastomosis disease Acquired Abnormality 155 2
C1963943 Atherothrombosis disease Acquired Abnormality 115 15
C0036646 Age-related cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 92 15
C0751316 Acquired Meningomyelocele phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality disease of anatomical entity; physical disorder 4 0
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18
C0302142 Deformity group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26
C3495676 Anorectal Malformations group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system 112 6
C0003855 Arteriovenous fistula phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality Abnormality of the cardiovascular system 93 8
C4321245 Cleft lip or lips phenotype Anatomical Abnormality Abnormality of head or neck 78 37
C0014670 Equinus Deformity disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality 2 0
C0856862 Posterior cerebral artery occlusion phenotype Anatomical Abnormality 1 1
C0920269 Microsatellite Instability phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0
C1721098 Replication Error Phenotype phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 15 0
C0871470 Systolic Pressure phenotype Clinical Attribute 843 1931
C0428883 Diastolic blood pressure phenotype Clinical Attribute 507 1037
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 1064 27
C0008626 Congenital chromosomal disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 757 47
C0008925 Cleft Palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 611 158
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 559 48
C0013274 Patent ductus arteriosus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 510 56
C0018818 Ventricular Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 426 87
C0018798 Congenital Heart Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 406 58
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