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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 3B
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Accession:DOID:0081241 term browser browse the term
Definition:A peroxisome biogenesis disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PEX12 gene on chromosome 17. (DO)
Synonyms:exact_synonym: PDB3B;   PEROXISOME BIOGENESIS DISORDER TYPE 3B;   Peroxisomal Biogenesis Disorder 3B
 primary_id: OMIM:266510
 alt_id: DOID:9009157


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peroxisome biogenesis disorder 3B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex12 peroxisomal biogenesis factor 12 ISO ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b | ClinVar Annotator: match by term: Peroxisome biogenesis disorder type 3B OMIM
ClinVar		 PMID:2122101 PMID:9090384 PMID:9536098 PMID:9632816 PMID:9792857 More... NCBI chr10:68,095,776...68,103,812
Ensembl chr10:68,095,776...68,099,428 		JBrowse link
G Pfkm phosphofructokinase, muscle ISO ClinVar Annotator: match by term: Peroxisomal biogenesis disorder 3b ClinVar PMID:9792857 NCBI chr 7:129,221,679...129,259,192
Ensembl chr 7:129,221,653...129,259,192 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        inherited metabolic disorder 6256
          peroxisomal disease 346
            peroxisomal biogenesis disorder 252
              peroxisome biogenesis disorder 3B 2
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13418
        genetic disease 13036
          monogenic disease 10421
            autosomal genetic disease 9578
              autosomal recessive disease 6657
                peroxisome biogenesis disorder 3B 2
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