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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 10B
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Accession:DOID:0081440 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 compound heterozygous mutation in the PEX3 gene on chromosome 6q24. (DO)
Synonyms:exact_synonym: PBD10B
 broad_synonym: PEX3-RELATED CONDITION
 primary_id: MIM:617370
 alt_id: DOID:9006868


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Peroxisome biogenesis disorder 10B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pex3 peroxisomal biogenesis factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 10B OMIM
ClinVar		 PMID:25741868 PMID:27557811 PMID:28492532 NCBI chr 1:7,912,508...7,954,474
Ensembl chr 1:9,732,492...9,774,576 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Nutritional and Metabolic Diseases 8574
      disease of metabolism 8574
        inherited metabolic disorder 6673
          peroxisomal disease 374
            peroxisomal biogenesis disorder 208
              Peroxisome biogenesis disorder 10B 1
Path 2
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13780
        genetic disease 13401
          monogenic disease 10835
            autosomal genetic disease 10302
              autosomal recessive disease 7090
                Peroxisome biogenesis disorder 10B 1
paths to the root