Term Name: peroxisome biogenesis disorder 2A
Synonyms: peroxisome biogenesis disorder 2A (Zellweger)
Definition: A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.
Ontology: Human Disease [DOID:0080477]   ( DOID:0080477 )

Relationships
is a type of: Zellweger syndrome