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ENSpondyloepimetaphyseal Dysplasia with Joint Laxity
Alias:
Spondyloepimetaphyseal Dysplasia with Joint Laxity, Beighton Type
Spondyloepimetaphyseal Dysplasia with Joint Laxity Type 1
Semdjl1
Dysplasia, Spondyloepimetaphyseal, with Joint Laxity
Semd-Jl1
Semd-Jl
Semdjl
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Spondyloepimetaphyseal Dysplasia with Joint Laxity, also known as semdjl1, is related to spondyloepimetaphyseal dysplasia with joint laxity, type 2 and spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures. An important gene associated with Spondyloepimetaphyseal Dysplasia with Joint Laxity is B3GALT6 (Beta-1,3-Galactosyltransferase 6), and among its related pathways/superpathways are Metabolism and Glycosaminoglycan metabolism. Affiliated tissues include bone and spinal cord, and related phenotype is limbs/digits/tail.
Related ID：
MESH：C562968
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MALACARDS
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