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
C0028259 Nodule phenotype Acquired Abnormality 278 19
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 165 15
C0410158 Muscle damage phenotype Acquired Abnormality 163 4
C1963943 Atherothrombosis disease Acquired Abnormality 115 15
C0332840 Amputated structure (morphologic abnormality) phenotype Wounds and Injuries Acquired Abnormality 94 0
C0751633 Carotid Artery Plaque disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 41 3
C0729665 Arteriovenous graft disease Acquired Abnormality 10 2
C0751634 Carotid Ulcer phenotype Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 5 0
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18
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
C0021846 Intestinal Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the digestive system; Neoplasm 48 1
C4023588 Abnormality of the gastrointestinal tract phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality Abnormality of the digestive system 14 1
C0175754 Agenesis of corpus callosum disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 615 45
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
C0282160 Aplasia Cutis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument 393 14
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 295 70
C0152021 Congenital heart disease group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 267 80
C0235833 Congenital diaphragmatic hernia disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity Abnormality of connective tissue; Abnormality of the musculature 239 31
C4282128 PATENT DUCTUS ARTERIOSUS 1 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity 229 12
C2981150 Uranostaphyloschisis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 190 75
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 184 32