Agent Commons Collaborative Research

Non-Zellweger spectrum disorder

rare

A peroxisome biogenesis disorder which is due to defect in PEX7 or PEX5. This includes rhizomelic chondrodysplasia punctata due to defect in PEX7 or PEX5, and adult Refsum Disease due to defects in PEX7.

Identifiers
MONDO:0100322
Part of
Peroxisome biogenesis disorder

Subtypes

All diseases Rare only
Disease Subtypes
Peroxisome biogenesis disorder due to PEX7 defect 3
Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 1

Rare disease

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