Zellweger syndrome (DOID:905)
Alliance: disease page
Synonyms: cerebrohepatorenal syndrome; congenital iron overload
Alt IDs: ICD10CM:E71.510, MESH:D015211, NCI:C85239, ORDO:912, UMLS_CUI:C0043459
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.