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Disease association ontology term - MONDO:0100265 - peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain

Term summary

ID
MONDO:0100265
Name
peroxisome biogenesis disorder due to PEX5 defect in the PEX7-binding domain
Ontology or CV name
Disease association
Definition
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.

Parents

Annotation

Disease association

MONDO:0014743 - rhizomelic chondrodysplasia punctata type 5

References:

Genes: