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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 11B
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Accession:DOID:0081439 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 mutation in the PEX13 gene on chromosome 2p15. (DO)
Synonyms:exact_synonym: PBD11B
 primary_id: OMIM:614885
 alt_id: DOID:9005083


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Peroxisome biogenesis disorder 11B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex13 peroxisomal biogenesis factor 13 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9480815 PMID:10332040 PMID:10441568 PMID:16006427 PMID:17041890 More... NCBI chr14:97,602,829...97,621,233
Ensembl chr14:97,603,539...97,621,262 		JBrowse link
G Pus10 pseudouridine synthase 10 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 11B ClinVar PMID:25741868 PMID:28492532 NCBI chr14:97,621,228...97,684,059
Ensembl chr14:97,621,391...97,684,046 		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 11B 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 11B 2
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