Peroxisome Biogenesis Disorder 2A

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PEX5 gene, encoding peroxisomal targeting signal 1 receptor. Peroxisome biogenesis disorder 2A manifests phenotypically as Zellweger syndrome.

**Synonyms:** - PBD2A