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中文Spondyloepimetaphyseal Dysplasia, X-Linked (SEMDX)
Alias:
X-Linked Spondyloepimetaphyseal Dysplasia
Semdx
Semd, X-Linked
Semd X-Linked
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脊柱-外周-基质发育不良，X连锁，也称为X连锁脊柱-外周-基质发育不良，与脊柱-外周-基质发育不良和X连锁脊柱-外周-基质发育不良有关，伴有髓鞘化不良性白质营养不良。与X连锁脊柱-外周-基质发育不良相关的基因是BGN（Biglycan），其相关通路/超级通路包括纤毛景观和内膜运输。附属组织包括骨和舌，相关表型为鸭步和短指。
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