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中文Axenfeld-Rieger Syndrome (ARS)
Alias:
Axenfeld Syndrome
Rieger Syndrome
Rieger Anomaly
Axenfeld Anomaly
Rieger Eye Malformation Sequence
Axenfeld and Rieger Anomaly
Rgs - Rieger Syndrome
Anomaly, Rieger's
Hagedoom Syndrome
Rieger's Anomaly
Axra
Axrs
Ars
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Axenfeld-Rieger 综合征，又称为 Axenfeld 综合征，与 Axenfeld-Rieger 综合征类型 1 和 Axenfeld-Rieger 综合征类型 3 有关。Axenfeld-Rieger 综合征相关的重要基因是 PITX2 (Paired Like Homeodomain 2)，其相关通路/超级通路包括 22q11.2 复制数变异综合征和中胚层承诺通路。附属组织包括眼睛和垂体，相关表型为后胚胎瞳孔和虹膜缺损/发育不全
Related ID：
MESH：C535679
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MALACARDS
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