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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;   MIM:614879


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Peroxisome biogenesis disorder 9B term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ahi1 Abelson helper integration site 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:15,762,485...15,891,213
Ensembl chr 1:15,762,462...15,891,041 		JBrowse link
G Bclaf1 BCL2-associated transcription factor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:15,088,436...15,117,666
Ensembl chr 1:15,070,894...15,148,832 		JBrowse link
G Ifngr1 interferon gamma receptor 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:14,333,167...14,351,799
Ensembl chr 1:14,333,187...14,351,785 		JBrowse link
G Il20ra interleukin 20 receptor subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:14,424,215...14,494,226
Ensembl chr 1:14,451,228...14,493,602 		JBrowse link
G Il22ra2 interleukin 22 receptor subunit alpha 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:14,353,736...14,377,844
Ensembl chr 1:14,364,489...14,377,844 		JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800 		JBrowse link
G Map7 microtubule-associated protein 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:14,910,433...15,037,574
Ensembl chr 1:14,910,551...15,037,574 		JBrowse link
G Mtfr2 mitochondrial fission regulator 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:15,123,232...15,138,632
Ensembl chr 1:15,070,894...15,148,832 		JBrowse link
G Olig3 oligodendrocyte transcription factor 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:14,081,259...14,083,336
Ensembl chr 1:14,081,328...14,082,149 		JBrowse link
G Pde7b phosphodiesterase 7B ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:15,174,001...15,493,267
Ensembl chr 1:15,182,704...15,492,900 		JBrowse link
G Pex7 peroxisomal biogenesis factor 7 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B OMIM
ClinVar		 PMID:1773541 PMID:8295403 PMID:9090381 PMID:9090382 PMID:9090383 More... NCBI chr 1:14,582,698...14,646,686
Ensembl chr 1:14,582,699...14,646,748 		JBrowse link
G Slc35d3 solute carrier family 35, member D3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:14,565,482...14,573,581
Ensembl chr 1:14,569,687...14,573,159 		JBrowse link
G Tnfaip3 TNF alpha induced protein 3 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 9B ClinVar PMID:12325024 PMID:12522768 PMID:20301447 PMID:28492532 NCBI chr 1:13,709,211...13,724,291
Ensembl chr 1:13,709,206...13,725,282 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    Nutritional and Metabolic Diseases 8516
      disease of metabolism 8516
        lipid metabolism disorder 1900
          Refsum disease 94
            Peroxisome biogenesis disorder 9B 13
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14333
        central nervous system disease 12605
          brain disease 11834
            Metabolic Brain Diseases 1511
              Metabolic Brain Diseases, Inborn 1380
                Refsum disease 94
                  Peroxisome biogenesis disorder 9B 13
paths to the root