{"orpha":99647,"name":"Cheirospondyloenchondromatosis","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Enchondromatosis Spranger, type VI","Generalized enchondromatosis with platyspondyly"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","url":"https://raremap.alftech.space/d/ORPHA-99647/","orphanet_url":"https://www.orpha.net/en/disease/detail/99647","names":{"fr":{"name":"Cheiro-spondylo-enchondromatose","synonyms":["Enchondromatose Spranger type VI","Enchondromatose généralisée avec platispondylie"]},"de":{"name":"Cheiro-spondylo-enchondromatose","synonyms":["Generalisierte Enchondromatose mit Platyspondylie"]},"es":{"name":"Quiro-espondiloencondromatosis"},"it":{"name":"Cheiro-spondilo-encondromatosi","synonyms":["Encondromatosi generalizzata con platispondilia"]},"nl":{"name":"Cheiro-spondylo-enchondromatose","synonyms":["Gegeneraliseerde enchondromatose met platyspondylie"]},"pt":{"name":"Queiro-espondiloencondromatose"},"pl":{"name":"Chrzęstniakowatość śródkostna rąk i kręgów","synonyms":["Enchondromatosis Spranger, type VI","Generalized enchondromatosis with platyspondyly"]},"cs":{"name":"Cheirospondyloenchondromatóza","synonyms":["Generalizovaná enchondromatóza s platyspondylií"]},"uk":{"name":"Хейроспондилоенхондроматоз","synonyms":["Енхондроматоз Шпрангера, тип VI","Генералізований енхондроматоз з пластинчастим спондилоартритом"]},"zh":{"name":"手型脊椎内生性软骨瘤病","synonyms":["泛发性软骨瘤病合并颈椎病"],"definition":"颈椎软骨瘤病是一种非常罕见的极早期发病(从新生儿期到婴儿期)的内生性软骨瘤病，其特征是对称性多发性内生性软骨瘤累及掌骨和指骨，导致手脚短小、颈椎畸形、轻到中度身材矮小和智力障碍。"},"tr":{"name":"Cheiro spondilo enkondromatosis","synonyms":["Platispondili ile seyreden jeneralize enkondromatozis"]}},"xrefs":[{"source":"MONDO","code":"0020474","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C4510810","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":99646,"name":"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}