Source: LHGDN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 22
C0162810 Cicatrix, Hypertrophic disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 9
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 4
C0006144 Breast Cyst disease Neoplasms; Skin and Connective Tissue Diseases Acquired Abnormality disease of anatomical entity; disease of cellular proliferation 3
C0014849 Esophageal and Gastric Varices disease Digestive System Diseases Acquired Abnormality 3
C0339543 Epiretinal Membrane disease Eye Diseases Acquired Abnormality disease of anatomical entity Abnormality of the eye 3
C0080233 Tooth Loss disease Stomatognathic Diseases Acquired Abnormality 2
C0035450 Rheumatoid Nodule disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases Acquired Abnormality 1
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 27
C0009917 Contracture disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 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 4
C0009376 Colonic Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 4
C0016169 pathologic fistula phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 3
C0752155 Central Nervous System Vascular Malformations group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Anatomical Abnormality 2
C0012817 Diverticulum phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality 1
C0016049 Fibromatosis, Gingival disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality disease of anatomical entity Neoplasm; Abnormality of head or neck 1
C0019294 Hernia, Inguinal phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity Abnormality of the digestive system; Abnormality of connective tissue 1
C0040588 Tracheoesophageal Fistula disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Respiratory Tract Diseases Anatomical Abnormality Abnormality of the digestive system; Abnormality of the respiratory system 1
C0158570 Vascular anomaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 1
C0178282 Hernia of abdominal cavity disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity 1
C0242216 Biliary calculi phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 18
C0042018 Urinary Calculi phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Body Substance 3
C0025568 Metaplasia phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction 45
C0027746 Nerve Degeneration phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction Abnormality of the nervous system 7
C0008924 Cleft upper lip disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality disease of anatomical entity; syndrome; physical disorder Abnormality of head or neck 26