{"orpha":2823,"name":"OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Fitzsimmons-Guilbert syndrome"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Autosomal recessive spastic ataxia of Charlevoix-Saguenay","url":"https://raremap.alftech.space/d/ORPHA-2823/","orphanet_url":"https://www.orpha.net/en/disease/detail/2823","names":{"fr":{"name":"OBSOLETE : Syndrome de paraplégie-brachydactylie-épiphyses en cône","synonyms":["OBSOLETE : Syndrome de Fitzsimmons-Guilbert"]},"de":{"name":"OBSOLET: Paraplegie-Brachydaktylie-Zapfenepiphysen-Syndrom","synonyms":["OBSOLET: Fitzsimmons-Guilbert-Syndrom"]},"es":{"name":"OBSOLETE: Paraplegia-brachydactyly-cone-shaped epiphysis syndrome"},"it":{"name":"OBSOLETO: Sindrome paraplegia-brachidattilia-epifisi a cono","synonyms":["OBSOLETO: Sindrome di Fitzsimmons-Guilbert"]},"nl":{"name":"OBSOLEET: Paraplegie - brachydactylie - kegelvormige epifyse-syndroom","synonyms":["OBSOLEET: Syndroom van Fitzsimmons-Guilbert"]},"pt":{"name":"OBSOLETO: Síndrome de paraplegia-braquidactilia-epífises cuneiformes","synonyms":["OBSOLETO: Síndrome Fitzsimmons-Guilbert"]},"pl":{"name":"NIEAKTUALNE: Paraplegia - brachydaktylia - nasady kosci w ksztalcie stozka","synonyms":["NIEAKTUALNE: Zespół Fitzsimmonsa i Guilberta"]},"cs":{"name":"NEAKTUÁLNÍ: Syndrom zahrnující paraplegii, brachydaktylii a epifýzu kuželovitého tvaru","synonyms":["NEAKTUÁLNÍ: Fitzsimmonsův-Guilbertové syndrom","NEAKTUÁLNÍ: Fitzsimmons-Guilbertové syndrom"]},"uk":{"name":"ЗАСТАРІЛО: Синдром параплегії-брахідактилії-конусоподібного епіфіза","synonyms":["ЗАСТАРІЛО: Синдром Фітцсіммонса-Гільберта"]},"zh":{"name":"弃用：截瘫-短指畸形-锥状骨骺综合征","synonyms":["Fitzsimmons-Guilbert综合征"]},"tr":{"name":"Eski adı: Parapleji-brakidaktili-koni şeklindeki epifiz sendromu","synonyms":["Fitzsimmons-Guilbert sendromu"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":98,"name":"Autosomal recessive spastic ataxia of Charlevoix-Saguenay"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}