{"orpha":104012,"name":"Rare monogenic inflammatory bowel disease","type":"Category","group":"Group of disorders","status":"active","flags":[],"synonyms":["Rare monogenic IBD"],"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-104012/","orphanet_url":"https://www.orpha.net/en/disease/detail/104012","names":{"fr":{"name":"Maladie inflammatoire monogénique rare de l'intestin","synonyms":["Maladie inflammatoire intestinale monogénique rare","MII monogénique rare"]},"de":{"name":"Seltene monogene entzündliche Darmerkrankung","synonyms":["Seltene monogene IBD"]},"es":{"name":"Enfermedad inflamatoria intestinal monogénica rara","synonyms":["EII monogénica rara"]},"it":{"name":"Malattia infiammatoria intestinale monogenica rara","synonyms":["IBD monogenica rara"]},"nl":{"name":"Zeldzame monogene inflammatoire darmziekte","synonyms":["Zeldzame monogene IBD"]},"pt":{"name":"Doença inflamatória do intestino"},"pl":{"name":"Rzadka choroba zapalna jelit","synonyms":["Rare monogenic IBD"]},"cs":{"name":"Vzácná zánětlivá choroba střev","synonyms":["Rare monogenic IBD"]},"uk":{"name":"Рідкісні запальні захворювання кишечника"},"zh":{"name":"罕见炎症性肠病"},"tr":{"name":"Nadir iltihaplı bağırsak hastalığı"}},"xrefs":[{"source":"MONDO","code":"15187","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681741","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"19849","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[{"type":"Referred to","orpha":36205,"name":"OBSOLETE: Collagenous colitis","status":"inactive"},{"type":"Referred to","orpha":58220,"name":"OBSOLETE: Microscopic colitis","status":"inactive"},{"type":"Referred to","orpha":65279,"name":"OBSOLETE: Lymphocytic colitis","status":"inactive"},{"type":"Referred to","orpha":103912,"name":"OBSOLETE: Epithelio-exfoliative colitis-deafness syndrome","status":"inactive"}],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":506216,"name":"Rare disorder potentially indicated for bowel transplant","classifications":[233]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[{"orpha":717862,"name":"Rare disorder with inflammatory bowel disease","type":"Category"},{"orpha":717851,"name":"Rare non-syndromic inflammatory bowel disease","type":"Clinical group"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}