{"orpha":182079,"name":"ARX-related epileptic encephalopathy","type":"Clinical group","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-182079/","orphanet_url":"https://www.orpha.net/en/disease/detail/182079","names":{"fr":{"name":"Encéphalopathie épileptique liée à ARX"},"de":{"name":"Enzephalopathie, epileptische, ARX-assoziierte"},"es":{"name":"Encefalopatía epiléptica ligada a ARX"},"it":{"name":"Encefalopatia epilettica correlata ad ARX"},"nl":{"name":"ARX-gerelateerde epileptische encefalopathie"},"pt":{"name":"Encefalopatia epilética ARX-relacionada"},"pl":{"name":"Encefalopatia padaczkowa związana z ARX"},"cs":{"name":"ARX-vázaná epileptická encefalopatie"},"uk":{"name":"Епілептична енцефалопатія, повязана з ARX"},"zh":{"name":"ARX基因相关的癫痫性脑病"},"tr":{"name":"ARX -ilişkili epileptik ensefalopati"}},"xrefs":[{"source":"MONDO","code":"15921","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C5680600","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":166472,"name":"Monogenic disease with epilepsy","classifications":[156,181]}],"children":[{"orpha":423655,"name":"ARX-related encephalopathy-brain malformation spectrum","type":"Clinical group"},{"orpha":1934,"name":"Early infantile developmental and epileptic encephalopathy","type":"Clinical syndrome"},{"orpha":364063,"name":"Infantile epileptic-dyskinetic encephalopathy","type":"Disease"},{"orpha":94083,"name":"Partington syndrome","type":"Malformation syndrome"},{"orpha":3175,"name":"X-linked spasticity-intellectual disability-epilepsy syndrome","type":"Disease"}],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}