Cell Culture Ontology

Last uploaded: July 23, 2014
Preferred Name

peroxisome biogenesis disorder due to PEX1 defect
Synonyms

PEX1 related Zellweger spectrum disorder

peroxisome biogenesis disorder due to PEX1 defect

Definitions

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.

ID

http://purl.obolibrary.org/obo/MONDO_0100259

definition

Any Zellweger spectrum disorder in which the cause of the disease is a mutation in the PEX1 gene.

has_exact_synonym

PEX1 related Zellweger spectrum disorder

peroxisome biogenesis disorder due to PEX1 defect

IAO_0000233

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

id

MONDO:0100259

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-base#rare

http://purl.obolibrary.org/obo/mondo/mondo-base#otar

http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping

label

peroxisome biogenesis disorder due to PEX1 defect

notation

MONDO:0100259

preferred label

peroxisome biogenesis disorder due to PEX1 defect

prefLabel

peroxisome biogenesis disorder due to PEX1 defect

terms_creator

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0019609

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