Source: CTD_human

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0022548 Keloid disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Acquired Abnormality Abnormality of the integument; Abnormality of connective tissue 35
C0740391 Middle Cerebral Artery Occlusion disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 34
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 24
C2936380 Neointima disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 6
C0015697 Arterial Fatty Streak phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 5
C0086501 Keratoma disease Skin and Connective Tissue Diseases Acquired Abnormality 5
C0751633 Carotid Artery Plaque disease Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 5
C0751634 Carotid Ulcer phenotype Nervous System Diseases; Cardiovascular Diseases Acquired Abnormality 5
C2936351 Fibroatheroma disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 5
C0751316 Acquired Meningomyelocele phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Acquired Abnormality disease of anatomical entity; physical disorder 4
C0333463 Senile Plaques disease Pathological Conditions, Signs and Symptoms Acquired Abnormality Abnormality of the nervous system 2
C2936349 Plaque, Amyloid disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 2
C3698507 Post-traumatic Porencephaly phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Acquired Abnormality disease of anatomical entity 2
C0014849 Esophageal and Gastric Varices disease Digestive System Diseases Acquired Abnormality 1
C0016427 Follicular cyst disease Neoplasms Acquired Abnormality 1
C0267211 Gastric Antral Vascular Ectasia disease Digestive System Diseases; Cardiovascular Diseases Acquired Abnormality disease of anatomical entity 1
C0040427 Tooth Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 10
C0021846 Intestinal Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the digestive system; Neoplasm 5
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 5
C0009376 Colonic Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 3
C0009917 Contracture disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 3
C1389016 ATRIOVENTRICULAR CANAL DEFECT disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the cardiovascular system 3
C1567435 Polycystic Kidney - body part disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality Abnormality of the genitourinary system 3
C1849930 Persistent Mullerian duct syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Anatomical Abnormality disease of anatomical entity 2
C2717759 Degenerative Intervertebral Discs disease Musculoskeletal Diseases Anatomical Abnormality 2