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ENAxenfeld-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 Syndrome, also known as axenfeld syndrome, is related to axenfeld-rieger syndrome, type 1 and axenfeld-rieger syndrome, type 3. An important gene associated with Axenfeld-Rieger Syndrome is PITX2 (Paired Like Homeodomain 2), and among its related pathways/superpathways are 22q11.2 copy number variation syndrome and Mesodermal commitment pathway. Affiliated tissues include eye and pituitary, and related phenotypes are posterior embryotoxon and aplasia/hypoplasia of the iris
Related ID：
MESH：C535679
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MALACARDS
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