Peroxisome Biogenesis Disorder 5A

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the PEX2 gene, encoding peroxisome biogenesis factor 2. Peroxisome biogenesis disorder 5A manifests phenotypically as Zellweger syndrome.

**Synonyms:** - PBD5A