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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:peroxisome biogenesis disorder 5A
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Accession:DOID:0080480 term browser browse the term
Definition:A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX2 gene on chromosome 8q21. (DO)
Synonyms:exact_synonym: PBD5A;   Peroxisome Biogenesis Disorder 5A (Zellweger)
 broad_synonym: CG5;   CGF;   PEX2-RELATED CONDITION;   peroxisome biogenesis disorder, complementation group 5;   peroxisome biogenesis disorder, complementation group F
 primary_id: MIM:614866


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peroxisome biogenesis disorder 5A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PEX2 peroxisomal biogenesis factor 2 ISO ClinVar Annotator: match by term: PEX2-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 5A (Zellweger) OMIM
ClinVar		 PMID:1546315 PMID:7541833 PMID:7681622 PMID:9452066 PMID:9585609 More... NCBI chr29:24,943,563...24,960,834 JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15757
    syndrome 10593
      Zellweger syndrome 115
        peroxisome biogenesis disorder 5A 1
Path 2
Term Annotations click to browse term
  disease 15757
    disease of anatomical entity 15377
      nervous system disease 13502
        central nervous system disease 12069
          brain disease 11332
            Metabolic Brain Diseases 1496
              Metabolic Brain Diseases, Inborn 1371
                Zellweger syndrome 115
                  peroxisome biogenesis disorder 5A 1
paths to the root