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Disease association ontology term - MONDO:0100259 - peroxisome biogenesis disorder due to PEX1 defect

Term summary

ID
MONDO:0100259
Name
peroxisome biogenesis disorder due to PEX1 defect
Ontology or CV name
Disease association
Definition
Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.

Parents

Annotation

Disease association

MONDO:0100259 - peroxisome biogenesis disorder due to PEX1 defect

References:

Genes:

MONDO:0008953 - peroxisome biogenesis disorder 1A (Zellweger)

References:

Genes:

MONDO:0011101 - peroxisome biogenesis disorder 1B

References:

Genes: