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ENSpondyloepimetaphyseal Dysplasia, Shohat Type (SEMDSH)
Alias:
Semd, Shohat Type
Semdsh
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Spondyloepimetaphyseal Dysplasia, Shohat Type, also known as semd, shohat type, is related to spondyloepimetaphyseal dysplasia and overgrowth syndrome. An important gene associated with Spondyloepimetaphyseal Dysplasia, Shohat Type is DDRGK1 (DDRGK Domain Containing 1). Affiliated tissues include bone, and related phenotypes are scoliosis and abnormal vertebral morphology
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