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ENAniridia 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, also known as aniridia, is related to gillespie syndrome and isolated aniridia. An important gene associated with Aniridia 1 is PAX6 (Paired Box 6), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and Mesodermal commitment pathway. Affiliated tissues include eye and kidney, and related phenotypes are hypoplasia of the iris and corneal erosion
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Basic Information
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MALACARDS
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MGI
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