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中文Prune Belly Syndrome (PBS)
Alias:
Abdominal Muscle Deficiency Syndrome
Eagle-Barrett Syndrome
Eagle-Barret Syndrome
Obrinsky Syndrome
Triad Syndrome
Egbrs
Pbs
Abdominal Muscles, Absence of, with Urinary Tract Abnormality and Cryptorchidism
Absence of Abdominal Muscles with Urinary Tract Abnormality and Cryptorchidism
Abdominal Muscular Deficiency Syndrome
Abdomen Muscular Deficiency Syndrome
Abdomen Muscle Deficiency Syndrome
Abdominal Muscle Aplasia Syndrome
Obrisnksy Syndrome
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膀胱外翻，也称为腹肌缺陷症，与内脏肌病1和肾发育不全有关。与膀胱外翻相关的基因是CHRM3（胆碱能受体M3），其相关通路/超通路包括信号转导和PAK通路。在该疾病的背景下提到了睾酮和雄激素。附属组织包括平滑肌和皮肤，相关表型包括隐睾和生育力下降。
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MALACARDS
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