Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type (SEMDBCD)

脊椎干骺端发育不良Borochowits-Cormieer-Daire型(来自ICD-11)

别称:

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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基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

脊柱-骨骺-骨端发育不良，Borochowitz-Cormier-Daire 型，也称为脊柱-骨骺-骨端发育不良，matrilin-3 型，与骨骺发育不良和多发性骨骺发育不良有关，为常染色体显性遗传。与脊柱-骨骺-骨端发育不良，Borochowitz-Cormier-Daire 型相关的基因是MATN3（Matrilin 3）。相关组织包括骨，相关表型为身材矮小和肢体发育不良。

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