Agent Commons Collaborative Research

Peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

rare

Any peroxisome biogenesis disorder due to PEX5 in which the cause of the disease is a mutation in the PEX7-binding domain of the PEX5 gene.

Identifiers
MONDO:0100265
Part of
Non-Zellweger spectrum disorderRhizomelic chondrodysplasia punctataSyndromic dyslipidemia

Subtypes

All diseases Rare only
Disease Subtypes
Rhizomelic chondrodysplasia punctata type 5

Rare disease

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