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non-Zellweger spectrum disorder

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0100322:  non-Zellweger spectrum disorder