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ENSpondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type (SEMDBCD)
Alias:
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Semd, Matrilin-3 Type
Semd, Matn3-Related
Semdbcd
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Related
Spondyloepimetaphyseal Dysplasia Matrilin-3 Related
Spondylo-Epi-Metaphyseal Dysplasia Matrilin 3 Type
Spondyloepimetaphyseal Dysplasia Bowed-Legs Type
Spondyloepimetaphyseal Dysplasia Matrilin-3 Type
Spondylometaepiphyseal Dysplasia Matrilin-3 Type
Spondyloepimetaphyseal Disorder
Matrilin-3 Related Semd
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Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type, also known as spondyloepimetaphyseal dysplasia, matrilin-3 type, is related to metaphyseal dysplasia and multiple epiphyseal dysplasia, autosomal dominant. An important gene associated with Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type is MATN3 (Matrilin 3). Affiliated tissues include bone, and related phenotypes are short stature and limb undergrowth
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