Source: CTD_human

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
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 2
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 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
C0019326 Ventral Hernia phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the digestive system; Abnormality of connective tissue 1
C0022906 Lacrimal Duct Obstruction disease Eye Diseases Anatomical Abnormality disease of anatomical entity Abnormality of head or neck 1
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 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
C0152237 Talipes Calcaneovalgus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 1
C0158570 Vascular anomaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality 1
C0333099 Fusiform Aneurysm disease Cardiovascular Diseases Anatomical Abnormality 1
C0398368 Lymphatic Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 1
C1450010 Plagiocephaly, Nonsynostotic disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1
C1704317 Leukokeratosis disease Pathological Conditions, Signs and Symptoms; Neoplasms Anatomical Abnormality Abnormality of head or neck 1
C1857781 Diaphragmatic Hernia 3 disease Pathological Conditions, Signs and Symptoms Anatomical Abnormality disease of anatomical entity 1
C3494422 Retrognathia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 1
C3494423 Maxillary Retroposition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1
C3494424 Maxillary Retrusion disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1
C3494425 Mandibular Retroposition phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1
C3494426 Mandibular Retrusion disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 1
C2936350 Plaque, Atherosclerotic phenotype Pathological Conditions, Signs and Symptoms Body Substance 5
C0009438 Common Bile Duct Calculi phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance disease of anatomical entity 4
C0242216 Biliary calculi phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Body Substance 4
C1449861 Micronuclei, Chromosome-Defective phenotype Pathological Conditions, Signs and Symptoms Cell Component 26
C1449862 Micronuclei, Genotoxicant-Induced phenotype Pathological Conditions, Signs and Symptoms Cell Component 26
C0027746 Nerve Degeneration phenotype Pathological Conditions, Signs and Symptoms Cell or Molecular Dysfunction Abnormality of the nervous system 81