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peroxisome biogenesis disorder due to PEX7 defect

^ http://purl.obolibrary.org/obo/MONDO_0100272


Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene. [ MONDO:patterns/disease_series_by_gene ]

Term info

IAO 0000233

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

created by

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

definition

Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX7 gene.

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019234

has exact synonym

PEX7 related peroxisome biogenesis disorder

has narrow synonym

rhizomelic chondrodysplasia punctata type 1 (formerly), adult refsum disease due to PEX7 defect (formerly)

id

MONDO:0100272

Term relations