peroxisome biogenesis disorder due to PEX7 defect
MONDO:0100272Mondo
Findings
No curated finding names peroxisome biogenesis disorder due to PEX7 defect yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.
Definition from the Mondo Disease Ontology (MONDO:0100272), 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.
- PEX7HGNC:8860
- Definitive · Natera · Autosomal recessive · 2023
Where it sits
- A kind of
Other names
1 name
Resolves to: peroxisome biogenesis disorder due to PEX7 defect
- Also called
- PEX7 related peroxisome biogenesis disorder