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ENSpondyloepiphyseal Dysplasia, Kimberley Type (SEDK)
Alias:
Sedk
Spondyloepiphyseal Dysplasia Kimberley Type
Dysplasia, Spondyloepiphyseal, Kimberley Type
Spondyloepiphyseal Dysplasia Type Kimberley
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Spondyloepiphyseal Dysplasia, Kimberley Type, also known as sedk, is related to keipert syndrome and acromesomelic dysplasia 1. An important gene associated with Spondyloepiphyseal Dysplasia, Kimberley Type is ACAN (Aggrecan), and among its related pathways/superpathways are Chondroitin sulfate/dermatan sulfate metabolism and Glycosaminoglycan metabolism. Affiliated tissues include bone, and related phenotypes are short thorax and platyspondyly
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