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中文Terminal Osseous Dysplasia (TOD)
Alias:
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Terminal Osseous Dysplasia and Pigmentary Defects
Todpd
Odpf Syndrome
Odpd
Tod
Osseous Dysplasia, Digital, with Facial Pigmentary Defects and Multiple Frenula
Digital Osseous Dysplasia with Facial Pigmentary Defects and Multiple Frenula
Terminal Osseous Dysplasia with Pigmentary Defects
Odpf
Terminal Osseous Dysplasia and Pigmentary Defect Syndrome
Osseous Dysplasia and Pigmentary Defects
Digitocutaneous Dysplasia
Dcd
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终端骨发育不良，也称为TODPD，与耳鼻喉综合征II型和耳鼻喉综合征I型有关。与终端骨发育不良有关的重要基因是FLNA（肌动蛋白结合蛋白A），其相关通路/超通路包括NPHP1删除综合征。附属组织包括皮肤和骨骼，相关表型为色素沉着性丘疹和包涵体纤维瘤。
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