{"orpha":522043,"name":"Syndromic autoimmune enteropathy","type":"Clinical group","group":"Group of disorders","status":"active","flags":[],"synonyms":[],"definition":null,"note":"This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.","url":"https://raremap.alftech.space/d/ORPHA-522043/","orphanet_url":"https://www.orpha.net/en/disease/detail/522043","names":{"fr":{"name":"Entéropathie autoimmune syndromique"},"de":{"name":"Autoimmun-Enteropathie, syndromale"},"es":{"name":"Enteropatía autoinmune sindrómica"},"it":{"name":"Enteropatia autoimmune sindromica"},"nl":{"name":"Syndromale auto-immune enteropathie"},"pt":{"name":"Enteropatia autoimune sindromática"},"pl":{"name":"Zespół enteropatii autoimmunologicznej"},"cs":{"name":"Syndromická autoimunitní enteropatie"},"uk":{"name":"Синдромна аутоімунна ентеропатія"},"zh":{"name":"综合征性自身免疫性肠病"},"tr":{"name":"Sendromik otoimmün enteropati"}},"xrefs":[{"source":"UMLS","code":"C5681440","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":103916,"name":"OBSOLETE: Autoimmune enteropathy type 2","status":"inactive"},{"type":"Referred to","orpha":103917,"name":"OBSOLETE: Autoimmune enteropathy type 3","status":"inactive"}],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":363300,"name":"Genetic intractable diarrhea of infancy","classifications":[156]},{"orpha":73014,"name":"Intractable diarrhea of infancy","classifications":[152,233]},{"orpha":94075,"name":"Severe immune-mediated enteropathy","classifications":[152]}],"children":[{"orpha":436159,"name":"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency","type":"Disease"},{"orpha":3453,"name":"Autoimmune polyendocrinopathy type 1","type":"Disease"},{"orpha":37042,"name":"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome","type":"Disease"},{"orpha":169100,"name":"Immunodeficiency due to CD25 deficiency","type":"Disease"},{"orpha":220465,"name":"Laron syndrome with immunodeficiency","type":"Disease"},{"orpha":391487,"name":"STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome","type":"Disease"},{"orpha":438159,"name":"STAT3-related early-onset multisystem autoimmune disease","type":"Disease"},{"orpha":445018,"name":"Syndromic autoimmune enteropathy due to LRBA deficiency","type":"Disease"},{"orpha":228426,"name":"Syndromic multisystem autoimmune disease due to Itch deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}