{"orpha":163673,"name":"Spondyloepiphyseal dysplasia, Byers type","type":"Disease","group":"Disorder","status":"inactive","flags":["Deprecated entity"],"synonyms":["Spondyloepiphyseal dysplasia-punctate corneal dystrophy syndrome"],"definition":null,"note":"This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Spondyloepiphyseal dysplasia tarda","url":"https://raremap.alftech.space/d/ORPHA-163673/","orphanet_url":"https://www.orpha.net/en/disease/detail/163673","names":{"fr":{"name":"Dysplasie spondylo-épiphysaire type Byers","synonyms":["Syndrome de dysplasie spondylo-épiphysaire-dystrophie cornéenne ponctuée"]},"de":{"name":"Dysplasie, spondyloepiphysäre, Typ Byers"},"es":{"name":"Displasia espondiloepifisaria tipo Byers","synonyms":["Displasia espondiloepifisaria-distrofia corneal punteada","Displasia espondiloepifisiaria-distrofia puntiforme de la córnea"]},"it":{"name":"Displasia spondiloepifisaria, tipo Byers"},"nl":{"name":"Spondylo-epifysaire dysplasie, Byers-type","synonyms":["Spondylo-epifysaire dysplasie - puntvormige corneadystrofie-syndroom"]},"pt":{"name":"Displasia espondiloepifisária, tipo Byers"},"pl":{"name":"Dysplazja kręgowo-nasadowa, typ Byersa","synonyms":["Dysplazja kręgowo-nasadowa - punktowa dystrofia rogówki"]},"cs":{"name":"Spondyloepifyzární dysplázie, Byersův typ","synonyms":["Syndrom zahrnující spondyloepifyzární dysplázii a dystrophia corneae punctata"]},"uk":{"name":"Спондилоепіфізарна дисплазія, тип Байєрса","synonyms":["Синдром спондилоепіфізарної дисплазії - точкової дистрофії рогівки"]},"zh":{"name":"Byers 型脊柱骨骺发育不良","synonyms":["脊柱骨骺发育不良-点状角膜营养不良综合征"]},"tr":{"name":"Spondiloepifizyal displazi, Byers tipi","synonyms":["Spondiloepifizeal displazi-punktata korneal distrofi sendromu"]}},"xrefs":[{"source":"OMIM","code":"183850","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C1866727","qualifier":"E","icd_relation":null,"validated":true}],"associations":[{"type":"Moved to","orpha":93284,"name":"Spondyloepiphyseal dysplasia tarda"}],"incoming_associations":[],"preferential_parent":null,"parents":[],"children":[],"genes":[],"genes_via_subtypes":[],"inheritance":[],"onset":[],"prevalence":[],"phenotypes":null}