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中文Aniridia 1 (AN1)
Alias:
Aniridia
Congenital Aniridia
Cataract with Late-Onset Corneal Dystrophy
Aplasia of Iris
Absent Iris
Irideremia
An1
an
Congenital Absence of Iris
Aniridia Ii, Formerly
Hereditary Aniridia
Sporadic Aniridia
Aniridia Type Ii
Aniridia, Type 1
Agenesis of Iris
Absence of Iris
An2, Formerly
an-1
An2
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Aniridia 1，也被称为无虹膜症，与吉列斯皮综合症和孤立性无虹膜症有关。与Aniridia 1相关的基因是PAX6（配对盒6），其相关通路/超级通路包括22q11.2拷贝数变异综合症和中胚层承诺通路。附属组织包括眼睛和肾脏，相关表型包括虹膜发育不全和角膜侵蚀。
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