{"orpha":642737,"name":"OBSOLETE: Spondyloepimetaphyseal dysplasia with severe short stature","type":"Malformation syndrome","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, Isidor type","url":"https://raremap.alftech.space/d/ORPHA-642737/","orphanet_url":"https://www.orpha.net/en/disease/detail/642737","names":{"fr":{"name":"OBSOLETE : Syndrome de dysplasie spondylo-épimétaphysaire-petite taille sévère"},"de":{"name":"OBSOLET: Spondyloepimetaphysäre Dysplasie mit starkem Kleinwuchs","synonyms":["OBSOLET: SEMDIST"]},"es":{"name":"OBSOLETO: Displasia espondiloepimetafisaria con talla baja extrema"},"it":{"name":"OBSOLETO: Displasia spondiloepimetafisaria con statura notevolmente bassa","synonyms":["OBSOLETO: Displasia spondiloepimetafisaria tipo Isidor-Toutain","OBSOLETO: SEMDIST"]},"nl":{"name":"OBSOLEET: Spondylo-epimetafysaire dysplasie met ernstige kleine gestalte","synonyms":["OBSOLEET: SEMDIST","OBSOLEET: Spondylo-epimetafysaire dysplasie, Isidor-Toutain-type"]},"pt":{"name":"OBSOLETO: Displasia espondiloepimetafisária com baixa estatura grave"},"pl":{"name":"NIEAKTUALNE: Dysplazja kręgowo-nasadowo-przynasadowa z ciężkim niedoborem wzrostu"},"cs":{"name":"NEAKTUÁLNÍ: Spondyloepimetafyzární dysplázie se závažnou formou malého vzrůstu"},"uk":{"name":"ЗАСТАРІЛО: Спондилоепіметафізарна дисплазія з вираженою низькорослістю"}},"xrefs":[],"associations":[{"type":"Referred to","orpha":370015,"name":"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}