General Information of Disease (ID: DISHYR28)

Disease Name Peroxisome biogenesis disorder due to PEX1 defect
Synonyms peroxisome biogenesis disorder due to PEX1 defect; PEX1 related Zellweger spectrum disorder
Definition Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.
Disease Hierarchy
DISW52CE: Zellweger spectrum disorders
DISHYR28: Peroxisome biogenesis disorder due to PEX1 defect