Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3277701 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 disease Finding disease of anatomical entity 1 1
C0265514 Dermatofibrosis lenticularis disseminata disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity 11 3
C0342342 Idiopathic Hypoparathyroidism disease Endocrine System Diseases Disease or Syndrome 12 5
C0263505 Alopecia universalis disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument 19 2
C0263314 Pemphigus and fogo selvagem disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 26 3
C1272321 Autoantibody measurement phenotype Laboratory Procedure 27 52
C0409651 Seropositive rheumatoid arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 30 1
C1268935 Congenital Thrombotic Thrombocytopenic Purpura disease Pathological Conditions, Signs and Symptoms; Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity 36 66
C0008728 Eosinophilic granulomatosis with polyangiitis disease Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 38 3
C1739108 Latent Autoimmune Diabetes in Adults disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 39 12
C0263338 Chronic urticaria disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 39 2
C1321756 Achalasia disease Disease or Syndrome disease of anatomical entity 40 5
C2103602 Autoimmune Primary Adrenal Insufficiency disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome 41 18
C0947912 Myasthenias disease Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the musculature 41 3
C1304470 Generalized vitiligo disease Skin and Connective Tissue Diseases Disease or Syndrome 43 16
C0271737 Addison's disease due to autoimmunity disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity 44 18
C1960272 Latent autoimmune diabetes mellitus in adult disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 49 12
C0014848 Esophageal Achalasia disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 49 5
C0042165 Anterior uveitis disease Eye Diseases Disease or Syndrome disease of anatomical entity 53 20
C0265338 Coffin-Siris syndrome disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Mental Disorders; Stomatognathic Diseases; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; syndrome; disease of mental health 56 6
C0206710 Basal Cell Neoplasm disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 58 109
C0011880 Diabetic Ketoacidosis disease Nutritional and Metabolic Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the endocrine system 63 3
C0751676 Basal Cell Cancer disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 64 109
C4050407 Pauci-immune Glomerulonephritis associated with Granulomatosis with Polyangiitis disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 71 15
C0162538 Immunoglobulin A deficiency (disorder) disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 72 25