{"orpha":714410,"name":"CARD8-related inflammatory bowel disease","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-714410/","orphanet_url":"https://www.orpha.net/en/disease/detail/714410","names":{"fr":{"name":"Maladie inflammatoire de l'intestin associée à CARD8"},"de":{"name":"CARD8-bedingte entzündliche Darmerkrankungen"},"es":{"name":"Enfermedad inflamatoria intestinal asociada a CARD8"},"it":{"name":"Malattia infiammatoria dell’intestino correlata a CARD8"},"nl":{"name":"CARD8-gerelateerde inflammatoire darmziekte"},"pt":{"name":"CARD8-related inflammatory bowel disease"},"pl":{"name":"Nieswoiste zapalenie jelit związane z CARD8"},"cs":{"name":"CARD8-related inflammatory bowel disease"}},"xrefs":[{"source":"OMIM","code":"619079","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":"CARD8","name":"caspase recruitment domain family member 8","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"29408806[PMID]","hgnc":"17057","ensembl":"ENSG00000105483","omim":"609051","loci":["19q13.33"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Cases/families","qualification":"Case(s)","class":null,"value":4.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Class only","class":"<1 / 1 000 000","value":0.0,"area":"Worldwide","status":"Validated","source":"ORPHANET"}],"phenotypes":null}