C222344Level 8
Anterior Segment Dysgenesis 2
**Semantic type:** Congenital Abnormality|Disease or Syndrome
**Definition:** A rare autosomal recessive inherited developmental disorder affecting the anterior segment of the eye that is caused by mutation(s) in the FOXE3 gene, encoding forkhead box protein E3. It is characterized by the absence of the lens (congenital primary aphakia) and is associated with other structural ocular defects.
**Synonyms:** - ASGD2 - CPAK - Congenital Primary Aphakia
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