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
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 626 0
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 185 3
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
C0332853 Anastomosis disease Acquired Abnormality 155 2
C0152459 Linear atrophy disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the integument 149 6
C0036646 Age-related cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 92 15
C0242621 Isochromosomes phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2
C0004277 Tooth Attrition disease Stomatognathic Diseases Acquired Abnormality 66 5
C0033844 Pseudotumor disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 11 0
C0036280 Burn scar disease Pathological Conditions, Signs and Symptoms; Wounds and Injuries Acquired Abnormality 11 0
C0086501 Keratoma disease Skin and Connective Tissue Diseases Acquired Abnormality 5 0
C0276262 Verruca plana disease Infections; Skin and Connective Tissue Diseases Acquired Abnormality disease by infectious agent Abnormality of the integument; Neoplasm 4 0
C0545034 pituitary giant disease Acquired Abnormality 1 0
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18
C4021790 Abnormality of the skeletal system disease Anatomical Abnormality Abnormality of the skeletal system 148 18
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 43
C3495676 Anorectal Malformations group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system 112 6
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
C4020732 Mitochondrial abnormalities disease Anatomical Abnormality Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 83 20
C0009376 Colonic Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 69 8
C0014511 Epithelial cyst phenotype Neoplasms Anatomical Abnormality disease of cellular proliferation Abnormality of the integument 38 0
C0281842 Abnormality of the fallopian tube phenotype Anatomical Abnormality Abnormality of the genitourinary system 22 0