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Concept information

disease > genetic disease > hereditary disease > immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome
disease > digestive diseases > intestinal disease > diarrhea > immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome
disease > skin appendages disease > skin disease > dermatitis > immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome
disease > endocrinopathy > thyroid diseases > thyroiditis > immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome
disease > immunopathology > autoimmune disease > diabetes mellitus type 1 > immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome
disease > endocrinopathy > diabetes > diabetes mellitus type 1 > immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome

Preferred term

immunodysregulation, polyendocrinopathy, enteropathy, X linked syndrome  

Definition(s)

  • Immunodysregulation polyendocrinopathy enteropathy X-linked (or IPEX) syndrome is a rare disease linked to the dysfunction of the transcription factor FOXP3, widely considered to be the master regulator of the regulatory T cell lineage. (Wikipedia)

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URI

http://data.loterre.fr/ark:/67375/VH8-J0B3L2K5-M

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RDF/XML TURTLE JSON-LD Last modified 5/14/20