Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4025244 Abnormal atrioventricular conduction phenotype Pathologic Function Abnormality of the cardiovascular system 7 0
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C4021546 Abnormal mitochondria in muscle tissue disease Anatomical Abnormality Abnormality of metabolism/homeostasis; Abnormal cellular phenotype; Abnormality of the musculature 39 2
C1837388 Abnormal pattern of respiration phenotype Finding Abnormality of the respiratory system 20 1
C4021780 Abnormality of the liver phenotype Finding Abnormality of the digestive system 75 8
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 209 21
C4551683 Adrenal Gland Pheochromocytoma disease Neoplasms; Endocrine System Diseases Neoplastic Process Abnormality of the nervous system; Abnormality of the endocrine system; Neoplasm 416 50
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0003076 Aniridia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 83 29
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 262 11
C4022998 Arachnoid hemangiomatosis phenotype Neoplasms Finding Neoplasm; Abnormality of the cardiovascular system 15 0
C0004114 Astrocytoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 985 59
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 868 68
C1859598 ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Hemic and Lymphatic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; disease of anatomical entity 20 19
C1263846 Attention deficit hyperactivity disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 842 420
C0034935 Babinski Reflex phenotype Finding Abnormality of the nervous system 218 11
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 595 57
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 393 34
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6776 2793
C0730303 Capillary hemangioma of retina disease Neoplasms; Cardiovascular Diseases Neoplastic Process Abnormality of the nervous system; Neoplasm; Abnormality of head or neck; Abnormality of the eye; Abnormality of the cardiovascular system 15 1
C0596263 Carcinogenesis phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355
C0206695 Carcinoma, Neuroendocrine disease Neoplasms Neoplastic Process disease of cellular proliferation 182 7
C0878544 Cardiomyopathies group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 925 294
C0007193 Cardiomyopathy, Dilated group Cardiovascular Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 512 509
C3150898 CARDIOMYOPATHY, DILATED, 1GG disease Disease or Syndrome genetic disease; disease of anatomical entity 1 2