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
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
C0332840 Amputated structure (morphologic abnormality) phenotype Wounds and Injuries Acquired Abnormality 94 0
C1519666 Tumor-Associated Vasculature disease Acquired Abnormality 84 0
C0080233 Tooth Loss disease Stomatognathic Diseases Acquired Abnormality 49 8
C0015826 Fenestration (morphologic abnormality) disease Acquired Abnormality 43 0
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
C0036280 Burn scar disease Pathological Conditions, Signs and Symptoms; Wounds and Injuries Acquired Abnormality 11 0
C0442887 Septal hypertrophy disease Acquired Abnormality 11 10
C1297883 Radial scar disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 10 0
C0086103 Decayed, Missing, and Filled Teeth disease Acquired Abnormality 6 3
C4476725 Retinal arterial macroaneurysms phenotype Acquired Abnormality Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system 1 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
C2919945 Cavernous Hemangioma of Brain disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity 127 10