Experimental Factor Ontology

Last uploaded: December 16, 2024
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Preferred Name

Peroxisome biogenesis disorder-Zellweger syndrome spectrum
Synonyms

PBD-Zellweger spectrum disorder

PBD-ZSD

PBD-ZSS
Definitions

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).
ID

http://www.orpha.net/ORDO/Orphanet_79189
database_cross_reference

MeSH:C536664

UMLS:C1832200
definition

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).
definition_citation

orphanet
has_exact_synonym

PBD-Zellweger spectrum disorder

PBD-ZSD

PBD-ZSS
label

Peroxisome biogenesis disorder-Zellweger syndrome spectrum
preferred label

Peroxisome biogenesis disorder-Zellweger syndrome spectrum
prefLabel

Peroxisome biogenesis disorder-Zellweger syndrome spectrum
subClassOf

http://www.orpha.net/ORDO/Orphanet_207018

http://www.orpha.net/ORDO/Orphanet_101940

http://www.ebi.ac.uk/efo/EFO_0000589
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