{"orpha":309848,"name":"Disorder of magnesium transport","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-309848/","orphanet_url":"https://www.orpha.net/en/disease/detail/309848","names":{"fr":{"name":"Anomalie du transport du magnésium"},"de":{"name":"Magnesiumtransport-Störung"},"es":{"name":"Trastornos de transporte del magnesio"},"it":{"name":"Difetto del trasporto del magnesio"},"nl":{"name":"Stoornis van magnesiumtransport"},"pt":{"name":"Alteração do transporte de magnésio"},"pl":{"name":"Zaburzenia transportu magnezu"},"cs":{"name":"Poruchy transportu hořčíku"},"uk":{"name":"Порушення транспорту магнію"},"zh":{"name":"镁转运障碍"},"tr":{"name":"Magnezyum taşınım bozuklukluğu"}},"xrefs":[{"source":"ICD-10","code":"E83.4","qualifier":"E","icd_relation":"specific","validated":true},{"source":"MONDO","code":"0017765","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"17765","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5681030","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":309836,"name":"Disorder of mineral absorption and transport","classifications":[150,156]}],"children":[{"orpha":34528,"name":"Autosomal dominant primary hypomagnesemia with hypocalciuria","type":"Disease"},{"orpha":620368,"name":"EGF-related primary hypomagnesemia with intellectual disability","type":"Disease"},{"orpha":199326,"name":"Isolated autosomal dominant hypomagnesemia, Glaudemans type","type":"Disease"},{"orpha":306516,"name":"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis","type":"Disease"},{"orpha":30924,"name":"Primary hypomagnesemia with secondary hypocalcemia","type":"Disease"},{"orpha":620363,"name":"Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome","type":"Disease"},{"orpha":564178,"name":"Primary hypomagnesemia-refractory seizures-intellectual disability syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}