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
C0333463 Senile Plaques disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the nervous system 244 21
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
C0332853 Anastomosis disease Acquired Abnormality 155 2
C0376154 Skin callus disease Skin and Connective Tissue Diseases Acquired Abnormality 154 0
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
C0595995 Idiopathic scoliosis disease Musculoskeletal Diseases Acquired Abnormality disease of anatomical entity 46 17
C0333293 Healing ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 43 1
C0156181 Peritoneal adhesion disease Digestive System Diseases; Skin and Connective Tissue Diseases Acquired Abnormality 31 0
C0155164 Conjunctival scar disease Pathological Conditions, Signs and Symptoms; Eye Diseases Acquired Abnormality 14 0
C0221248 Tophus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 14 3
C0036280 Burn scar disease Pathological Conditions, Signs and Symptoms; Wounds and Injuries Acquired Abnormality 11 0
C0037944 Spinal Stenosis disease Musculoskeletal Diseases Acquired Abnormality disease of anatomical entity 6 0
C0521626 Fibrosis of urinary bladder disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality 5 0
C0235259 Subcapsular cataract disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Acquired Abnormality Abnormality of the eye 4 0
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 379 18
C0302142 Deformity group Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Anatomical Abnormality 350 26
C0019270 Hernia phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of connective tissue 107 9
C0009917 Contracture disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 102 12
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 86 20