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中文Thanatophoric Dysplasia, Type I (TD1)
Alias:
Thanatophoric Dysplasia
Thanatophoric Dysplasia Type 1
Thanatophoric Dwarfism
Td1
Thanatophoric Short Stature
Td
Thanatophoric Dwarfism Type 1
Lethal Short-Limbed Platyspondylic Dwarfism, San Diego Type
Lethal Short-Limbed Platyspondylic Dwarfism San Diego Type
Platyspondylic Lethal Skeletal Dysplasia, San Diego Type
Platyspondylic Lethal Skeletal Dysplasia San Diego Type
Thanatophoric Dwarfism or Short Stature
Dysplasia, Thanatophoric, Type I
Thanatophoric Dwarfism Syndrome
Thanatophoric Dysplasia Type I
Td - [thanatophoric Dwarfism]
Thanatophoric Dysplasia 1
Dwarf, Thanatophoric
Thanatophoric Dwarf
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死亡性发育不良，类型I，也称为死亡性发育不良，与平坦脊柱性致命性骨骼发育不良，特兰斯类型和无骨症有关。与死亡性发育不良，类型I有关的重要基因是FGFR3（成纤维细胞生长因子受体3），其相关通路/超级通路包括传染病和ERK信号通路。附属组织包括颞叶和骨，相关表型为巨脑和肌张力低下
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MALACARDS
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