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
C0028259 Nodule phenotype Acquired Abnormality 278 19
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
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 129 14
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
C0242362 Disk, Herniated disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Acquired Abnormality 31 0
C0035450 Rheumatoid Nodule disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 26 3
C0231557 Abnormal bone formation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Acquired Abnormality 12 1
C0332790 Osseous ankylosis disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system 3 0
C0205929 Anal Fistula disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases Acquired Abnormality disease of anatomical entity Abnormality of the digestive system 2 0
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 379 18
C0016169 pathologic fistula phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 69 8
C3544347 Intestinal fibrosis phenotype Anatomical Abnormality 65 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
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 557 20
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 303 31
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 257 53
C0037221 Situs Inversus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality physical disorder Abnormality of the digestive system; Abnormality of the cardiovascular system; Growth abnormality 121 3
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 46 15
C0265797 Congenital emphysema disease Respiratory Tract Diseases Congenital Abnormality 40 0
C0340803 Capillary malformation (disorder) disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the integument 37 12
C0345319 Cyst of hydatid of Morgagni phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Congenital Abnormality 4 0