Biological and Environmental Research Ontology

Last uploaded: December 23, 2022
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Preferred Name

Peroxisome Biogenesis Disorder
Synonyms
Definitions

A group of conditions characterized by impairment of peroxisome assembly and metabolic pathways confined to this organelle, caused by mutation(s) in the peroxin (PEX) gene family. Phenotypically, they manifest as Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP1), the latter a distinct peroxisome biogenesis disorder phenotype. ZS, NALD, and IRD have multiple complementation groups and form a spectrum of diseases with overlapping features.
ID

http://purl.obolibrary.org/obo/NCIT_C155747
code

C155747
definition

A group of conditions characterized by impairment of peroxisome assembly and metabolic pathways confined to this organelle, caused by mutation(s) in the peroxin (PEX) gene family. Phenotypically, they manifest as Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and rhizomelic chondrodysplasia punctata (RCDP1), the latter a distinct peroxisome biogenesis disorder phenotype. ZS, NALD, and IRD have multiple complementation groups and form a spectrum of diseases with overlapping features.
label

Peroxisome Biogenesis Disorder
Preferred_Name

Peroxisome Biogenesis Disorder
prefixIRI

NCIT:C155747
prefLabel

Peroxisome Biogenesis Disorder
Semantic_Type

Disease or Syndrome
UMLS_CUI

C1832200
subClassOf

http://purl.obolibrary.org/obo/NCIT_C61253
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