{"orpha":166068,"name":"Pontocerebellar hypoplasia type 5","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["PCH5","Fetal-onset olivopontocerebellar hypoplasia"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Pontocerebellar hypoplasia type 4","url":"https://raremap.alftech.space/d/ORPHA-166068/","orphanet_url":"https://www.orpha.net/en/disease/detail/166068","names":{"fr":{"name":"Hypoplasie pontocérébelleuse type 5","synonyms":["HPC5","Hypoplasie olivopontocérébelleuse foetale","PCH5"]},"de":{"name":"Pontozerebelläre Hypoplasie Typ 5","synonyms":["Olivopontozerebellärer Hypoplasie, fötale","PCH5"]},"es":{"name":"Hipoplasia pontocerebelosa tipo 5","synonyms":["HPC5","Hipoplasia olivopontocerebelosa de inicio fetal"]},"it":{"name":"Ipoplasia pontocerebellare, tipo 5","synonyms":["Ipoplasia olivo-ponto-cerebellare a esordio fetale","PCH5"]},"nl":{"name":"Pontocerebellaire hypoplasie type 5","synonyms":["Olivopontocerebellaire hypoplasie met foetale aanvang","PCH5"]},"pt":{"name":"Hipoplasia pontocerebelosa tipo 5","synonyms":["Hipoplasia olivopontocerebelosa de início fetal"]},"pl":{"name":"Hipoplazja mostowo-móżdżkowa typu 5","synonyms":["Hipoplazja oliwkowo-mostowo-móżdżkowa o początku w życiu płodowym","PCH5"]},"cs":{"name":"Pontocerebelární hypoplázie, typ 5","synonyms":["Olivopontocerebelární hypoplázie s prenatálním nástupem","PCH5"]},"uk":{"name":"Понтоцеребеллярна гіпоплазія тип 5","synonyms":["Внутрішньоутробна оливопонтоцеребеллярна гіпоплазія","PCH5"]},"zh":{"name":"桥脑小脑发育不全5型","synonyms":["胎儿起病的橄榄体脑桥小脑发育不良"],"definition":"脑桥小脑发育不全5型(PCH5)是一种非常罕见的产前起病重型PCH(见该词条)，其特征是持续至婴儿期的胎儿阵挛或惊厥样活动和导致出生后早期死亡的脑过小。脑桥小脑发育不全4型和5型在表型和基因型上均有显著重叠。"},"tr":{"name":"Pontoserebellar hipoplazi tip 5","synonyms":["PCH5","Fetal başlangıçlı olivopontocerebellar hipoplazi"]}},"xrefs":[{"source":"OMIM","code":"610204","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1857762","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10709","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":166063,"name":"Pontocerebellar hypoplasia type 4"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}