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ENSpondyloepiphyseal Dysplasia Congenita (SEDC)
Alias:
Sedc
Sed Congenita
Spondyloepiphyseal Dysplasia, Congenital Type
Congenital Spondyloepiphyseal Dysplasia
Spondyloepiphyseal Dysplasia, Congenita
Spranger-Wiedemann Disease
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Spondyloepiphyseal Dysplasia Congenital Type
Dysplasia, Spondyloepiphyseal, Congenita
Late Spondyloepiphyseal Dysplasia
Sed, Congenital Type
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Spondyloepiphyseal Dysplasia Congenita, also known as sedc, is related to spondyloepiphyseal dysplasia with congenital joint dislocations and coxa vara, and has symptoms including waddling gait, respiratory distress and arthralgia. An important gene associated with Spondyloepiphyseal Dysplasia Congenita is COL2A1 (Collagen Type II Alpha 1 Chain), and among its related pathways/superpathways are ERK Signaling and Signal Transduction. Affiliated tissues include bone and spinal cord, and related phenotypes are scoliosis and disproportionate short-trunk short stature
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