JSON

peroxisome biogenesis disorder

^ http://purl.obolibrary.org/obo/MONDO_0019234

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). [ Orphanet:79189 ]

Term info

database cross reference
  • GARD:0011890 (MONDO:equivalentTo)
  • NCIT:C155747 (MONDO:equivalentTo)
  • DOID:0080377 (MONDO:equivalentTo)
  • SCTID:742876007 (MONDO:equivalentTo)
  • Orphanet:79189 (MONDO:equivalentTo)
  • OMIMPS:214100 (MONDO:equivalentTo)
  • MESH:C531857 (MONDO:equivalentTo)
  • NCIT:C146639 (https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24)
  • GARD:0009473 (MONDO:shared-umls-xref)
  • MESH:C536664 (Orphanet:79189/e)
Subsets

disease_grouping, ordo_group_of_disorders

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2632

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).

exactMatch

https://omim.org/phenotypicSeries/PS214100, http://purl.obolibrary.org/obo/DOID_0080377, http://identifiers.org/mesh/C531857, http://purl.obolibrary.org/obo/NCIT_C146639, http://purl.obolibrary.org/obo/Orphanet_79189, http://identifiers.org/mesh/C536664, http://identifiers.org/snomedct/742876007, http://purl.obolibrary.org/obo/NCIT_C155747

has exact synonym

peroxisome biogenesis disorder-Zellweger syndrome spectrum, peroxisome biogenesis disorders, Zellweger syndrome spectrum, PBD-ZSD, peroxisome biogenesis disorder, peroxisome biogenesis disorder spectrum, PBD, ZSS, peroxisomal biogenesis disorders, peroxisomal biogenesis disorders, Zellweger syndrome spectrum

has narrow synonym

cerebrohepatorenal syndrome

has related synonym

PBD-Zellweger spectrum disorder, Zellweger syndrome spectrum, Zellweger spectrum disorders, Zellweger spectrum disorder, PBD-ZSS, ZSD, Zellweger spectrum, disorders of peroxisome biogenesis

id

MONDO:0019234