Source: BEFREE

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 607 0
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 385 111
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0162810 Cicatrix, Hypertrophic disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 184 3
C0332853 Anastomosis disease Acquired Abnormality 155 2
C0376154 Skin callus disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0
C0339543 Epiretinal Membrane disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 97 0
C0281899 Prolapsed lumbar disc disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 75 33
C0751633 Carotid Artery Plaque disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 37 3
C0035450 Rheumatoid Nodule disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 26 3
C0205204 Scab disease Acquired Abnormality 24 0
C0340782 Hyperplastic lymph node disease Acquired Abnormality 12 0
C0001510 Postoperative adhesion phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 9 0
C0333160 Air cyst disease Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality 4 1
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 379 18
C0019270 Hernia phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of connective tissue 107 9
C0597984 Biliary stricture disease Digestive System Diseases Anatomical Abnormality 17 0
C0238441 Subglottic stenosis disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Anatomical Abnormality Abnormality of the respiratory system 5 0
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1091 73
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 557 20
C4520983 Congenital atresia of extrahepatic bile duct disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system 171 19
C0005411 Biliary Atresia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system 169 19
C0000846 Agenesis disease Congenital Abnormality 161 44
C0003857 Congenital arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 127 23
C0220810 Congenital defects group Congenital Abnormality 126 6