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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 10A
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Accession:DOID:0080484 term browser browse the term
Definition:A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX3 gene on chromosome 6q24. (DO)
Synonyms:exact_synonym: PBD10A;   peroxisome biogenesis disorder 10A (Zellweger)
 broad_synonym: PEX3-RELATED CONDITION
 primary_id: MIM:614882
 xref: MONDO:0013948


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peroxisome biogenesis disorder 10A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: PEX3-related condition | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10A (Zellweger) OMIM
ClinVar		 PMID:7562283 PMID:9536098 PMID:10942428 PMID:10958759 PMID:10968777 More... NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:7,912,506...7,954,518 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19102
    syndrome 11271
      Zellweger syndrome 121
        peroxisome biogenesis disorder 10A 1
Path 2
Term Annotations click to browse term
  disease 19102
    disease of anatomical entity 18443
      nervous system disease 14336
        central nervous system disease 12608
          brain disease 11837
            Metabolic Brain Diseases 1512
              Metabolic Brain Diseases, Inborn 1380
                Zellweger syndrome 121
                  peroxisome biogenesis disorder 10A 1
paths to the root