Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0409651 Seropositive rheumatoid arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 30 1
C3277701 VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 6 disease Finding disease of anatomical entity 1 1
C0263338 Chronic urticaria disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 39 2
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
C2717865 Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis disease Immune System Diseases; Cardiovascular Diseases Disease or Syndrome 86 3
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
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
C0008728 Eosinophilic granulomatosis with polyangiitis disease Immune System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 38 3
C0263314 Pemphigus and fogo selvagem disease Skin and Connective Tissue Diseases; Immune System Diseases Disease or Syndrome 26 3
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
C0205734 Diabetes, Autoimmune disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 172 4
C0751356 Idiopathic Inflammatory Myopathies disease Musculoskeletal Diseases; Nervous System Diseases Disease or Syndrome 106 4
C3899278 Early Rheumatoid Arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome 83 5
C0014848 Esophageal Achalasia disease Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 49 5
C1321756 Achalasia disease Disease or Syndrome disease of anatomical entity 40 5
C0342342 Idiopathic Hypoparathyroidism disease Endocrine System Diseases Disease or Syndrome 12 5
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
C2347126 Microscopic Polyarteritis disease Immune System Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 77 7
C0333307 Superficial ulcer disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 242 10
C0041234 Chagas Disease disease Infections Disease or Syndrome disease by infectious agent 202 10
C3714757 Juvenile rheumatoid arthritis disease Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases Disease or Syndrome Abnormality of the skeletal system 183 10
C0002893 Refractory anemias disease Hemic and Lymphatic Diseases Disease or Syndrome Abnormality of blood and blood-forming tissues 340 11
C0022638 Ketosis disease Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 119 11
C1960272 Latent autoimmune diabetes mellitus in adult disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 49 12
C1739108 Latent Autoimmune Diabetes in Adults disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome 39 12