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中文Spondyloepimetaphyseal Dysplasia with Joint Laxity, Type 1, with or Without Fractures (SEMDJL1)
Alias:
Semdjl1
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1
Spondyloepimetaphyseal Dysplasia with Joint Laxity, 1, with or Without Fractures
Spondyloepimetaphyseal Dysplasia with Joint Laxity Beighton Type
Dysplasia, Spondyloepimetaphyseal, with Joint Laxity
Semdjl-Beighton Type
Semdjl
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脊柱-骨骺-关节松弛症1型，伴有或不伴有骨折，也称为semdjl1，与脊柱-骨骺-关节松弛症和埃勒斯-当洛斯综合征有关。与脊柱-骨骺-关节松弛症1型，伴有或不伴有骨折有关的重要基因是B3GALT6（β-1,3-半乳糖转移酶6），其相关通路/超级通路包括代谢和糖胺聚糖代谢。相关组织包括骨和心脏，相关表型包括腕关节融合和突出的前额。
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