Spondyloepimetaphyseal Dysplasia, Sponastrime Type (SEMDSP)

脊椎干骺端发育不良脊髓型(来自ICD-11)

别称:

Sponastrime Dysplasia

Spondylar and Nasal Changes with Striations of the Metaphyses Dysplasia

Spondylar and Nasal Alterations with Striated Metaphyses

Semdsp

Short-Limb Dwarfism with Saddle Nose, Spinal Alterations, and Metaphyseal Striation

Short Limb Dwarfism with Saddle Nose, Spinal Alterations and Metaphyseal Striation

Spondylar and Nasal Alterations-Striated Metaphyses Syndrome

Dysplasia, Spondyloepimetaphyseal, Sponastrime Type

加入收藏

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，Sponastrime型，又称Sponastrime发育不良，与骨骺发育不良和脊柱-骨骺-骨端发育不良有关。与Spondyloepimetaphyseal Dysplasia, Sponastrime Type相关的重要的基因是TONSL（Tonsoku Like，DNA Repair Protein）。相关组织包括骨，相关表型为鼻梁下陷和面部形状异常

查看原文参与反馈