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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 5B
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Accession:DOID:0081434 term browser browse the term
Definition:A peroxisomal biogenesis disorder that is characterized by the overlapping phenotypes of neonatal adrenoleukodystrophy and infantile Refsum disease and that has_material_basis_in homozygous or compound heterozygous mutation in the PEX2 gene on chromosome 8q21. (DO)
Synonyms:exact_synonym: PBD5B
 broad_synonym: PEX2-RELATED CONDITION
 primary_id: MIM:614867
 alt_id: DOID:9008800


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Peroxisome biogenesis disorder 5B 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: Peroxisome biogenesis disorder 5B OMIM
ClinVar		 PMID:1546315 PMID:7541833 PMID:7681622 PMID:7931872 PMID:9452066 More... NCBI chr 8:73,508,349...73,526,560
Ensembl chr 8:75,146,255...75,147,172 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15687
    Nutritional and Metabolic Diseases 7219
      disease of metabolism 7219
        inherited metabolic disorder 5594
          peroxisomal disease 359
            peroxisomal biogenesis disorder 257
              Peroxisome biogenesis disorder 5B 1
Path 2
Term Annotations click to browse term
  disease 15687
    Developmental Disease 13597
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 12638
        genetic disease 12286
          monogenic disease 10349
            autosomal genetic disease 9544
              autosomal recessive disease 6676
                Peroxisome biogenesis disorder 5B 1
paths to the root