peroxisome biogenesis disorder due to PEX2 defect
MONDO:0100260Mondo
Findings
No curated finding names peroxisome biogenesis disorder due to PEX2 defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX2 gene.
Definition from the Mondo Disease Ontology (MONDO:0100260), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- PEX2HGNC:9717
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: peroxisome biogenesis disorder due to PEX2 defect
- Also called
- PEX2 related Zellweger spectrum disorder