Term Name: Zellweger syndrome
Synonyms: cerebrohepatorenal syndrome, congenital iron overload
Definition: A peroxisomal biogenesis disorder that is characterized by severe neurologic dysfunction, craniofacial abnormalities, and liver dysfunction, and biochemically by the absence of peroxisome and that has_material_basis_in autosomal recessive inheritance of a mutation in the peroxisome biogenesis factor (PEX) genes.
Ontology: Human Disease [DOID:905]   ( DOID:905 )

Relationships
is a type of: autosomal recessive disease peroxisomal biogenesis disorder
has subtype: peroxisome biogenesis disorder 1A peroxisome biogenesis disorder 2A peroxisome biogenesis disorder 3A peroxisome biogenesis disorder 4A peroxisome biogenesis disorder 5A peroxisome biogenesis disorder 6A peroxisome biogenesis disorder 7A peroxisome biogenesis disorder 8A peroxisome biogenesis disorder 10A peroxisome biogenesis disorder 11A peroxisome biogenesis disorder 12A peroxisome biogenesis disorder 13A