Source: BEFREE

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 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
C0410158 Muscle damage phenotype Acquired Abnormality 163 4
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
C0546343 Mucosal erosion phenotype Acquired Abnormality 4 0
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
C0020449 Hyperdistention phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 12 1
C0220668 Congenital contractural arachnodactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality disease of anatomical entity 557 20
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 427 12
C0282160 Aplasia Cutis Congenita disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument 376 11
C0025958 Microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 358 27
C1837218 Cleft palate, isolated disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality syndrome; physical disorder 257 53
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
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 148 53
C0022283 Incontinentia Pigmenti Achromians disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Congenital Abnormality disease of anatomical entity 61 10
C0003076 Aniridia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 46 12
C0497552 Congenital neurologic anomalies group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 43 1
C0403814 Congenital bilateral aplasia of vas deferens disease Male Urogenital Diseases Congenital Abnormality 27 28
C0238506 Congenital posterior urethral valves disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 20 0
C0396060 Congenital laryngeal adductor palsy disease Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Congenital Abnormality 17 0