General Information of Disease (ID: DISR5OKH)

Disease Name Peroxisome biogenesis disorder due to PEX14 defect
Synonyms PEX14 related Zellweger spectrum disorder; peroxisome biogenesis disorder due to PEX14 defect
Definition Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX14 gene.
Disease Hierarchy
DISW52CE: Zellweger spectrum disorders
DISR5OKH: Peroxisome biogenesis disorder due to PEX14 defect