{"orpha":225692,"name":"Metal transport or utilization disorder with epilepsy","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-225692/","orphanet_url":"https://www.orpha.net/en/disease/detail/225692","names":{"fr":{"name":"Anomalie du transport ou de l'utilisation des métaux avec épilepsie"},"de":{"name":"Störungen im Stoffwechsel von Metallen mit Epilepsie"},"es":{"name":"Anomalía en el transporte o utilización de metales con epilepsia"},"it":{"name":"Disturbo del trasporto o dell'utilizzo dei metalli associato a epilessia"},"nl":{"name":"Metaaltransport- of utilisatiestoornis met epilepsie"},"pt":{"name":"Doença do transporte ou da utilização de metais, com epilepsia"},"pl":{"name":"Zaburzenie transportu lub wydalania metali z padaczką"},"cs":{"name":"Porucha transportu nebo utilizace kovů s epilepsií"},"uk":{"name":"Порушення транспортування або утилізації металів з епілепсією"},"zh":{"name":"金属转运或利用障碍伴癫痫"},"tr":{"name":"Epilepsi ile seyreden metal taşıma veya kullanım bozukluğu"}},"xrefs":[{"source":"MONDO","code":"16400","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680895","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166481,"name":"Metabolic diseases with epilepsy","classifications":[156,181]}],"children":[{"orpha":565,"name":"Menkes disease","type":"Disease"},{"orpha":905,"name":"Wilson disease","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}