{"orpha":93359,"name":"OBSOLETE: Spondyloepimetaphyseal dysplasia with joint laxity","type":"Disease","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":[],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type","url":"https://raremap.alftech.space/d/ORPHA-93359/","orphanet_url":"https://www.orpha.net/en/disease/detail/93359","names":{"fr":{"name":"OBSOLETE : Dysplasie spondylo-épimétaphysaire avec hyperlaxité ligamentaire"},"de":{"name":"OBSOLET: Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke","synonyms":["OBSOLET: SEMD-JL","OBSOLET: SEMDJL1","OBSOLET: Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Typ 1","OBSOLET: Spondyloepimetaphysäre Dysplasie mit Überstreckbarkeit der Gelenke Typ Beighton"]},"es":{"name":"OBSOLETO: Displasia espondiloepimetafisaria con laxitud articular","synonyms":["OBSOLETO: Displasia espondiloepimetafisaria con laxitud articular tipo 1","OBSOLETO: Displasia espondiloepimetafisaria con laxitud articular tipo Beighton","OBSOLETO: SEMD-JL","OBSOLETO: SEMDJL1"]},"it":{"name":"OBSOLETO: Displasia spondiloepimetafisaria con lassità articolare","synonyms":["OBSOLETO: Displasia spondiloepimetafisaria con lassità articolare, tipo 1","OBSOLETO: SEMD-JL","OBSOLETO: SEMDJL1"]},"nl":{"name":"OBSOLEET: Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit","synonyms":["OBSOLEET: SEMD-JL","OBSOLEET: SEMDJL1","OBSOLEET: Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit type 1","OBSOLEET: Spondylo-epimetafysaire dysplasie met gewrichtslaxiteit, Beighton-type"]},"pt":{"name":"OBSOLETO: Displasia espondiloepimetafisária com hiperlaxidão articular"},"pl":{"name":"NIEAKTUALNE: Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów","synonyms":["NIEAKTUALNE: Dysplazja kręgowo-nasadowo-przynasadowa z wiotkością stawów typu 1","NIEAKTUALNE: SEMDJL","NIEAKTUALNE: SEMDJL1"]},"cs":{"name":"NEAKTUÁLNÍ: Spondyloepimetafyzární dysplázie se zvýšenou volností kloubů","synonyms":["NEAKTUÁLNÍ: SEMD-JL","NEAKTUÁLNÍ: SEMDJL1","NEAKTUÁLNÍ: Spondyloepimetafyzární dysplázie se zvýšenou volností kloubů, typ 1"]},"uk":{"name":"ЗАСТАРІЛО: Спондилоепіметафізарна дисплазія з розхитаністю суглобів"},"zh":{"name":"脊椎干骺端发育不良伴关节松弛","synonyms":["脊椎干骺端发育不良伴关节松弛，Beighton型"]},"tr":{"name":"Eklem gevşekliği ile seyreden spondiloepimetafizyal displazi","synonyms":["SEMD-JL","SEMDJL1","Eklem gevşekliği tip 1 ile seyreden spondiloepimetafizyal displazi","Eklem gevşekliği ile seyreden spondiloepimetafizyal displazi, Beighton tipi"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":642099,"name":"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}