{"orpha":104006,"name":"Congenital intestinal disease due to an enzymatic defect","type":"Category","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-104006/","orphanet_url":"https://www.orpha.net/en/disease/detail/104006","names":{"fr":{"name":"Maladie intestinale congénitale due à une anomalie enzymatique"},"de":{"name":"Intestinale Krankheit durch enzymatischen Defekt, kongenitale"},"es":{"name":"Enfermedad intestinal congénita por un defecto enzimático"},"it":{"name":"Malattia intestinale da difetto enzimatico congenito"},"nl":{"name":"Congenitale darmziekte door een enzymatisch defect"},"pt":{"name":"Doença intestinal por deficiência enzimática, congénita"},"pl":{"name":"Wrodzona choroba jelit z powodu defektu enzymatycznego"},"cs":{"name":"Vrozená střevní choroba způsobená enzymatickým defektem"},"uk":{"name":"Вроджене захворювання кишечника через ферментативний дефект"},"zh":{"name":"酶缺陷所致先天性肠病"},"tr":{"name":"Enzimatik defekte bağlı doğumsal bağırsak hastalığı"}},"xrefs":[{"source":"MONDO","code":"15181","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681744","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":97935,"name":"Rare gastroenterologic disease"},"parents":[{"orpha":165655,"name":"Genetic intestinal disease","classifications":[156]},{"orpha":117569,"name":"Rare intestinal disease","classifications":[152]}],"children":[{"orpha":103907,"name":"Chronic diarrhea due to glucoamylase deficiency","type":"Disease"},{"orpha":168601,"name":"Congenital enteropathy due to enteropeptidase deficiency","type":"Disease"},{"orpha":53690,"name":"Congenital lactase deficiency","type":"Disease"},{"orpha":35122,"name":"Congenital sucrase-isomaltase deficiency","type":"Disease"},{"orpha":103909,"name":"Trehalase deficiency","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}