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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 1B
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Accession:DOID:0081240 term browser browse the term
Definition:A peroxisome 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 PEX1 gene on chromosome 7q21. (DO)
Synonyms:exact_synonym: PBD1B
 primary_id: OMIM:601539


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peroxisome biogenesis disorder 1B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gatad1 GATA zinc finger domain containing 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B ClinVar PMID:9398847 PMID:9398848 PMID:9536098 PMID:12032265 PMID:12402331 More... NCBI chr 4:30,507,530...30,519,107
Ensembl chr 4:30,507,538...30,519,107 		JBrowse link
G Pex1 peroxisomal biogenesis factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 1B OMIM
ClinVar		 PMID:1301993 PMID:2063923 PMID:2324705 PMID:9398847 PMID:9398848 More... NCBI chr 4:30,519,950...30,558,953
Ensembl chr 4:30,519,955...30,558,921 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Nutritional and Metabolic Diseases 8235
      disease of metabolism 8235
        inherited metabolic disorder 6212
          peroxisomal disease 344
            peroxisomal biogenesis disorder 250
              peroxisome biogenesis disorder 1B 2
Path 2
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          monogenic disease 10362
            autosomal genetic disease 9515
              autosomal recessive disease 6581
                peroxisome biogenesis disorder 1B 2
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