Term Name: peroxisome biogenesis disorder 5A
Synonyms: peroxisome biogenesis disorder 5A (Zellweger)
Definition: A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21.
Ontology: Human Disease [DOID:0080480]   ( DOID:0080480 )

Relationships
is a type of: Zellweger syndrome