Source: LHGDN

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0003090 Ankylosis phenotype Musculoskeletal Diseases Pathologic Function disease of anatomical entity Abnormality of the skeletal system 1
C0003165 Anthracosis disease Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity 1
C2350233 Antley-Bixler Syndrome Phenotype disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome genetic disease 1
C0162872 Aortic Aneurysm, Thoracic disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1
C0003493 Aortic Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C0003504 Aortic Valve Insufficiency disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1
C0078981 Arachnoid Cysts disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 1
C0878486 Arteriolosclerosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 1
C0003860 Arteritis phenotype Cardiovascular Diseases Pathologic Function disease of anatomical entity Abnormality of the cardiovascular system 1
C0003869 Arthritis, Infectious group Infections; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1
C0236792 Asperger Syndrome disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health 1
C0004031 Aspergillosis, Allergic Bronchopulmonary disease Infections; Respiratory Tract Diseases; Immune System Diseases Disease or Syndrome disease by infectious agent 1
C0004245 Atrioventricular Block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 1
C0242528 Azotemia disease Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 1
C0004604 Back Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Constitutional symptom; Abnormality of the skeletal system 1
C0004782 Basal Ganglia Diseases group Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
C0278076 Behavioral tic disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health 1
C0270851 Benign neonatal epilepsy disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
C0005403 Bile Reflux disease Digestive System Diseases Disease or Syndrome disease of anatomical entity 1
C0220754 Biotinidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 1
C0005741 Blepharitis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of head or neck; Abnormality of the eye 1
C0005744 Blepharophimosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of head or neck 1
C0155320 Blindness, Cortical disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity 1
C0005941 Bone Diseases, Developmental group Musculoskeletal Diseases Disease or Syndrome 1
C0005967 Bone neoplasms group Neoplasms; Musculoskeletal Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the skeletal system 1