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peroxisome biogenesis disorder due to PEX12 defect

^ http://purl.obolibrary.org/obo/MONDO_0100266


Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

Subsets

disease_grouping

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/2632

created by

https://orcid.org/0000-0001-5208-3432

definition

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX12 gene.

has exact synonym

PEX12 related Zellweger spectrum disorder, peroxisome biogenesis disorder due to PEX12 defect

id

MONDO:0100266

Term relations