Non-Zellweger spectrum disorder

MONDO:0100322

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.

Also known as: non-Zellweger spectrum disorder

8 clinical trials for this condition and its sub-types, 0 tagged with Non-Zellweger spectrum disorder itself.

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Part of

↑ Peroxisome biogenesis disorder (8)

Sub-types of Non-Zellweger spectrum disorder

Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain 0 trials · 1 incl. sub-types
1 sub-type
- Rhizomelic chondrodysplasia punctata type 5 1 trial
Peroxisome biogenesis disorder due to PEX7 defect 0 trials · 1 incl. sub-types
2 sub-types
- Rhizomelic chondrodysplasia punctata type 1 1 trial
- Adult Refsum disease due to PEX7 defect 0 trials

Including sub-types (8) Tagged with Non-Zellweger spectrum disorder (0)

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