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ENSpondyloepimetaphyseal Dysplasia
Alias:
Spondylo-Epimetaphyseal Dysplasia
Dysplasia, Spondyloepimetaphyseal
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Spondyloepimetaphyseal Dysplasia, also known as spondylo-epimetaphyseal dysplasia, is related to spondyloepimetaphyseal dysplasia, strudwick type and spondyloepimetaphyseal dysplasia, missouri type. An important gene associated with Spondyloepimetaphyseal Dysplasia is BGN (Biglycan), and among its related pathways/superpathways are Diseases of glycosylation and Extracellular matrix organization. Affiliated tissues include bone and skin, and related phenotypes are limbs/digits/tail and vision/eye
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