has part has part has_part realized in realized in metabolic process disease course Rare metabolic liver disease Rare hereditary metabolic disease with peripheral neuropathy Peroxisome biogenesis disorder-Zellweger syndrome spectrum PBD-ZSS orphanet Peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS) is a group of autosomal recessive disorders affecting the formation of functional peroxisomes, characterized by sensorineural hearing loss, pigmentary retinal degeneration, multiple organ dysfunction and psychomotor impairment, and is comprised of the phenotypic variants Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) (see these terms). PBD-ZSD MESH:C536664 PBD-Zellweger spectrum disorder UMLS:C1832200