Omodysplasia 1 (OMOD1)

肩部发育不良1型(来自ICD-11)

别称:

Autosomal Recessive Omodysplasia

Micromelic Dysplasia-Dislocation of Radius Syndrome

Omodysplasia Type 1

Omod1

Micromelic Dysplasia, Congenital, with Dislocation of Radius

Micromelic Dysplasia Congenital with Dislocation of Radius

Omodysplasia, Autosomal Recessive

Omodysplasia Autosomal Recessive

Omodysplasia, Generalized Form

Omodysplasia Generalized Form

Omodysplasia, Type 1

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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

Omodysplasia 1，也被称为常染色体隐性Omodysplasia，与Omodysplasia和Omodysplasia 2有关。与Omodysplasia 1有关的重要基因是GPC6（Glypican 6），其相关通路/超级通路包括参与肝细胞癌Wnt信号通路的ncRNAs和mTOR信号通路。附属组织包括骨和心脏，相关表型包括前额突出和鼻梁凹陷。

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