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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 2B
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Accession:DOID:0080622 term browser browse the term
Definition:A peroxisomal biogenesis disorder that has_material_basis_in homozygous mutation in the PEX5 gene on chromosome 12p13.3. (DO)
Synonyms:exact_synonym: PBD2B
 primary_id: OMIM:202370
 xref: NCI:C155751
For additional species annotation, visit the Alliance of Genome Resources.


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peroxisome biogenesis disorder 2B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex5 peroxisomal biogenesis factor 5 ISO OMIM NCBI chr 4:156,983,914...157,009,675
Ensembl chr 4:156,983,915...157,009,674
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    Nutritional and Metabolic Diseases 4704
      disease of metabolism 4704
        inherited metabolic disorder 2235
          peroxisomal disease 133
            peroxisomal biogenesis disorder 73
              peroxisome biogenesis disorder 2B 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      nervous system disease 10949
        central nervous system disease 9066
          brain disease 8372
            disease of mental health 5980
              developmental disorder of mental health 3114
                specific developmental disorder 2316
                  intellectual disability 2163
                    syndromic intellectual disability 692
                      Mental Retardation, X-Linked 669
                        adrenoleukodystrophy 51
                          peroxisome biogenesis disorder 2B 1
paths to the root