Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0009730 Spinal meningocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality disease of anatomical entity; physical disorder 10 0
C0270707 Kluver-Bucy Syndrome disease Nervous System Diseases; Mental Disorders Mental or Behavioral Dysfunction disease of mental health 10 0
C1879828 Benign Teratoma disease Neoplasms Neoplastic Process disease of cellular proliferation 10 0
C0025299 Meningocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome physical disorder Abnormality of the nervous system 11 0
C0281658 Intraocular Lymphoma disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 19 0
C3532239 Mitochondrial cardiomyopathy disease Disease or Syndrome 23 7
C0011649 Dermoid Cyst disease Neoplasms Neoplastic Process disease of cellular proliferation Abnormality of the integument 33 0
C1261470 Congenital meningocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality physical disorder 33 0
C0233523 Antisocial behavior phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction 51 17
C0343386 Clostridium difficile infection disease Infections Disease or Syndrome 57 10
C0016037 Fibrodysplasia Ossificans Progressiva disease Musculoskeletal Diseases Disease or Syndrome genetic disease; disease of anatomical entity 58 17
C0686377 CNS metastases phenotype Neoplasms; Nervous System Diseases Neoplastic Process 102 14
C0687720 Central Diabetes Insipidus disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 105 21
C0201976 Creatinine measurement, serum (procedure) phenotype Laboratory Procedure 124 243
C0231341 Premature aging syndrome disease Pathological Conditions, Signs and Symptoms Disease or Syndrome 136 5
C0018099 Gout disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 205 2354
C0003868 Arthritis, Gouty disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 206 2356
C1336708 Testicular Germ Cell Tumor disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 208 93
C0001948 Alcohol consumption phenotype Behavior and Behavior Mechanisms Individual Behavior 210 535
C0202239 Uric acid measurement (procedure) phenotype Laboratory Procedure 264 1463
C0751651 Mitochondrial Diseases group Nutritional and Metabolic Diseases Disease or Syndrome genetic disease; disease of metabolism 284 84
C0023448 Lymphoid leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 288 4
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18
C0017654 Glomerular Filtration Rate phenotype Diagnostic Procedure 399 1033
C0345967 Malignant mesothelioma disease Neoplasms; Respiratory Tract Diseases Neoplastic Process disease of cellular proliferation Neoplasm 420 12