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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 9B
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Accession:DOID:0081438 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 PEX7 gene on chromosome 6q23. (DO)
Synonyms:exact_synonym: Adult Refsum Disease, 2;   PBD9B;   PEROXISOME BIOGENESIS DISORDER, PEX7-RELATED, ATYPICAL
 primary_id: MESH:C567603
 alt_id: DOID:9006365;   OMIM:614879


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Nutritional and Metabolic Diseases 8246
      disease of metabolism 8246
        lipid metabolism disorder 1739
          Refsum disease 82
            Peroxisome biogenesis disorder 9B 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            Metabolic Brain Diseases 1490
              Metabolic Brain Diseases, Inborn 1358
                Refsum disease 82
                  Peroxisome biogenesis disorder 9B 1
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