{"orpha":714484,"name":"AGR2-related infantile-onset inflammatory bowel disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714484/","orphanet_url":"https://www.orpha.net/en/disease/detail/714484","names":{"fr":{"name":"Maladie inflammatoire de l'intestin à début infantile associée à AGR2"},"de":{"name":"AGR2-assoziierte entzündliche Darmerkrankung mit Beginn im Kindesalter"},"es":{"name":"Enfermedad inflamatoria intestinal asociada a AGR2 de inicio infantil"},"it":{"name":"Malattia infiammatoria intestinale ad esordio infantile correlata ad AGR2"},"nl":{"name":"AGR2-gerelateerde infantiel optredende inflammatoire darmziekte","synonyms":["AGR2-gerelateerde inflammatoire darmziekte beginnend op zuigelingenleeftijd"]},"pt":{"name":"AGR2-related infantile-onset inflammatory bowel disease"},"pl":{"name":"Nieswoista choroba zapalna jelit o początku w wieku niemowlęcym związana z AGR2"},"cs":{"name":"AGR2-related infantile-onset inflammatory bowel disease"}},"xrefs":[{"source":"OMIM","code":"620233","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"K52.8","qualifier":"NTBT","icd_relation":"attributed","validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":717851,"name":"Rare non-syndromic inflammatory bowel disease","classifications":[152,156,233]}],"children":[],"genes":[{"symbol":"AGR2","name":"anterior gradient 2, protein disulphide isomerase family member","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"34237462[PMID]","hgnc":"328","ensembl":"ENSG00000106541","omim":"606358","loci":["7p21.1"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Infancy"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":2.0,"area":"Worldwide","status":"Validated","source":"34237462[PMID]"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"34237462[PMID]_ORPHANET"}],"phenotypes":null}