{"orpha":82004,"name":"Ehlers-Danlos syndrome with periventricular heterotopia","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["EDS with periventricular heterotopia","Filamin A-related EDS with periventricular nodular heterotopia"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Periventricular nodular heterotopia","url":"https://raremap.alftech.space/d/ORPHA-82004/","orphanet_url":"https://www.orpha.net/en/disease/detail/82004","names":{"fr":{"name":"Syndrome d'Ehlers-Danlos avec hétérotopie périventriculaire","synonyms":["EDS-hétérotopie nodulaire périventriculaire","SED-hétérotopie nodulaire périventriculaire","Syndrome d'Ehlers-Danlos avec hétérotopie nodulaire périventriculaire liée à la filamine A"]},"de":{"name":"Ehlers-Danlos-Syndrom mit periventrikulärer Heterotopie","synonyms":["EDS mit periventrikulärer Heterotopie","Filamin A-assoziiertes EDS mit periventrikulärer nodulärer Heterotopie"]},"es":{"name":"Síndrome de Ehlers-Danlos con heterotopía periventricular","synonyms":["SED asociado a filamina A con heterotopía periventricular nodular","SED con heterotopía periventricular"]},"it":{"name":"Sindrome di Ehlers-Danlos con eterotopia periventricolare","synonyms":["EDS con eterotopia periventricolare"]},"nl":{"name":"Syndroom van Ehlers-Danlos met periventriculaire heterotopie","synonyms":["EDS met periventriculaire heterotopie","Filamine A-gerelateerd EDS met periventriculaire nodulaire heterotopie"]},"pt":{"name":"Síndrome Ehlers-Danlos com heterotopia periventricular","synonyms":["EDS com heterotopia periventricular"]},"pl":{"name":"Zespół Ehlersa-Danlosa z okołokomorową heterotopią","synonyms":["EDS z okołokomorową heterotopią"]},"cs":{"name":"Ehlersův-Danlosův syndrom s periventrikulární heterotopií","synonyms":["EDS s periventrikulární heterotopií","Ehlers-Danlosův syndrom s periventrikulární heterotopií"]},"uk":{"name":"Синдром Елерса-Данлоса з перивентрикулярною гетеротопією","synonyms":["EDS з перивентрикулярною гетеротопією","Філамін А-залежний EDS з перивентрикулярною вузлуватою гетеротопією"]},"zh":{"name":"埃-当综合征伴脑室周围灰质异位","synonyms":["EDS伴脑室旁小结异位"]},"tr":{"name":"Periventriküler heterotopi ile seyreden Ehlers-Danlos sendromu","synonyms":["Periventriküler nodüler heterotopili filamin A ile seyreden EDS","Periventriküler heterotopili EDS"]}},"xrefs":[{"source":"UMLS","code":"C1845235","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":98892,"name":"Periventricular nodular heterotopia"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}