Tibia, Hypoplasia or Aplasia of, with Polydactyly (THYP)

胫骨发育不全伴多指/趾畸形(来自ICD-11)

别称:

Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome

Hypoplastic or Aplastic Tibia with Polydactyly

Absence of Tibia with Polydactyly

Absent Tibia-Polydactyly Syndrome

Tibial Hemimelia-Polydactyly-Triphalangeal Thumbs with Fibular Dimelia

Werner Mesomelic Syndrome

Werner Mesomelic Spectrum

Thyp

Hypoplastic Tibiae-Postaxial Polydactyly Syndrome

Tibia, Hypoplastic or Aplastic, with Polydactyly

Hypoplasia or Aplasia of Tibia with Polydactyly

Tibia, Hypoplasia of, with Polydactyly

Wms

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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

胫骨、发育不良或缺如伴多趾症，又称胫骨半肢缺损-多趾症-三趾拇指综合征，与三趾拇指伴多趾症和多趾症有关，前轴ii。与胫骨、发育不良或缺如伴多趾症相关的基因是LMBR1（肢发育膜蛋白1），其相关通路/超级通路包括输尿管集合系统发育和 Hedgehog 信号通路。附属组织包括骨和前额叶皮层，相关表型为身材矮小和髌骨缺如。

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