Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C4025723 Abnormal upper motor neuron morphology disease Anatomical Abnormality Abnormality of the nervous system 20 1
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 171 5
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 2438 563
C0410702 Adolescent idiopathic scoliosis disease Musculoskeletal Diseases Anatomical Abnormality 656 1178
C4017118 ADULT POLYGLUCOSAN BODY NEUROPATHY disease Finding 1 5
C0085623 Akinesia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 43 3
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 198 33
C0003962 Ascites phenotype Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 198 7
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 868 68
C0079731 B-Cell Lymphomas group Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of blood and blood-forming tissues 1408 42
C1305855 Body mass index phenotype Clinical Attribute 1014 2689
C0684249 Carcinoma of lung disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 4081 1204
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 925 294
C1449563 Cardiomyopathy, Familial Idiopathic disease Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity 773 243
C0342790 Carnitine palmitoyl transferase 2 deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 11 29
C0038454 Cerebrovascular accident group Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the cardiovascular system 1658 591
C0795956 Chylomicron retention disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 10 6
C1623038 Cirrhosis disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 919 110
C0270960 Congenital myopathy (disorder) group Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity 63 10
C0268237 Cytochrome-c Oxidase Deficiency disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome; Congenital Abnormality genetic disease; disease of metabolism 65 44
C0497327 Dementia disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 816 176
C0011849 Diabetes Mellitus group Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 2803 824
C0032708 Disorders of Porphyrin Metabolism group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 26 7
C1847584 Distal sensory impairment phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 86 5