syndromic disease autosomal recessive disease leukodystrophy peroxisomal disease peroxisome biogenesis disorder https://github.com/monarch-initiative/mondo/issues/2632 https://www.epilepsydiagnosis.org/aetiology/metabolic-groupoverview.html#peroxisomal https://www.malacards.org/card/peroxisomal_biogenesis_disorder Zellweger spectrum disorder 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). cerebrohepatorenal syndrome PBD-Zellweger spectrum disorder UMLS:C1832200 PBD-ZSS peroxisomal biogenesis disorders, Zellweger syndrome spectrum PBD, ZSS peroxisome biogenesis disorder-Zellweger syndrome spectrum MEDGEN:330407 GARD:0011890 Zellweger spectrum disorders SCTID:742876007 peroxisome biogenesis disorder disorders of peroxisome biogenesis NANDO:1200759 NANDO:2200575 PBD-ZSD MONDO:0019234 MESH:C536664 MESH:C531857 Orphanet:79189 peroxisomal biogenesis disorders peroxisome biogenesis disorder spectrum icd11.foundation:1919322367 DOID:0080377 NCIT:C155747 peroxisome biogenesis disorders, Zellweger syndrome spectrum Zellweger spectrum NCIT:C146639 ZSD OMIMPS:214100 Zellweger syndrome spectrum hereditary peripheral neuropathy