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中文Bart-Pumphrey Syndrome (BAPS)
Alias:
Knuckle Pads, Leukonychia, and Sensorineural Deafness
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Hearing Loss-Palmoplantar Keratoderma Syndrome
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Keratoderma Syndrome
Knuckle Pads, Deafness and Leukonychia Syndrome
Baps
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Syndrome
Knuckle Pads-Leukonychia-Sensorineural Deafness-Palmoplantar Hyperkeratosis Synd
Knuckle Pads, Leuconychia and Sensorineural Deafness
Knuckle Pads, Deafness, and Leukonychia Syndrome
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巴特-庞普雷综合征，又称指垫、白甲和感觉神经性耳聋，与角化病、掌跖、耳聋和掌跖角化病有关。与巴特-庞普雷综合征有关的重要基因是GJB2（间隙连接蛋白β2），其相关通路/超级通路包括囊泡介导的运输和G蛋白信号通路G蛋白α-i信号级联。相关组织包括皮肤和胰腺，相关表型包括先天性感觉神经性听力障碍和白甲
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MALACARDS
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