{"orpha":141330,"name":"OBSOLETE: Orofaciodigital syndrome type 13","type":"Malformation syndrome","group":"Disorder","status":"inactive","flags":["Obsolete entity"],"synonyms":["OBSOLETE: Degner syndrome","OBSOLETE: OFD13","OBSOLETE: Oral-facial-digital syndrome type 13"],"definition":null,"note":"This entity has been obsoleted from the Orphanet nomenclature of rare diseases.<br/><br/>Instead, consider using Orofaciodigital syndrome","url":"https://raremap.alftech.space/d/ORPHA-141330/","orphanet_url":"https://www.orpha.net/en/disease/detail/141330","names":{"fr":{"name":"OBSOLETE : Syndrome oro-facio-digital type 13","synonyms":["OBSOLETE : OFD13","OBSOLETE : Syndrome de Degner"]},"de":{"name":"OBSOLET: Oro-fazio-digitales Syndrom Typ 13","synonyms":["OBSOLET: Degner-Syndrom","OBSOLET: OFD13","OBSOLET: Oral-fazial-digitales Syndrom Typ 13"]},"es":{"name":"OBSOLETO: Síndrome orofaciodigital tipo 13","synonyms":["OBSOLETO: OFD13","OBSOLETO: Síndrome de Degner","OBSOLETO: Síndrome oro-facio-digital tipo 13"]},"it":{"name":"OBSOLETO: Sindrome oro-facio-digitale, tipo 13","synonyms":["OBSOLETE: Sindrome oro-facio-digitale, tipo 13","OBSOLETO: OFD13","OBSOLETO: Sindrome di Degner","OBSOLETO: Sindrome oro-facio-digitale tipo 13","OBSOLETE: OFD13"]},"nl":{"name":"OBSOLEET: Orofaciodigitaal syndroom type 13","synonyms":["OBSOLEET: OFD13","OBSOLEET: Oraal-faciaal-digitaal syndroom type 13","OBSOLEET: Syndroom van Degner"]},"pt":{"name":"OBSOLETO: Síndrome orofaciodigital tipo 13"},"pl":{"name":"NIEAKTUALNE: Zespół ustno-twarzowo-palcowy typu 13","synonyms":["NIEAKTUALNE: OFD13"]},"cs":{"name":"NEAKTUÁLNÍ: Orofaciodigitální syndrom, typ 13","synonyms":["NEAKTUÁLNÍ: OFD13"]},"uk":{"name":"ЗАСТАРІЛО: Орофаціодигітальний синдром, тип 13","synonyms":["ЗАСТАРІЛО: Синдром Дегнера","ЗАСТАРІЛО: OFD13","ЗАСТАРІЛО: Орально-лицево-пальцевий синдром, тип 13"]},"zh":{"name":"口面指综合征13型","synonyms":["口-面-指综合征13型"],"definition":"口面指综合征13型是口面指综合征的一种罕见亚型，散发，其特征是心脏（二尖瓣和三尖瓣发育异常）和神经精神症状（癫痫、抑郁），此外还有口腔、面部和指趾畸形（舌错构瘤、唇裂、短指趾畸形、指侧弯、手足并指趾）。经脑MRI检查发现脑白质缺血也与该病相关。"},"tr":{"name":"Orofasiyodijital sendrom tip 13","synonyms":["OFD13","Degner sendromu","Oral-fasiyal-dijital sendromu tip 13"]}},"xrefs":[],"associations":[{"type":"Referred to","orpha":140997,"name":"Orofaciodigital syndrome"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}