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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 12A
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Accession:DOID:0080486 term browser browse the term
Definition:A Zellweger syndrome that has_material_basis_in homozygous mutation in the PEX19 gene on chromosome 1q23. (DO)
Synonyms:exact_synonym: PBD12A;   peroxisome biogenesis disorder 12A (Zellweger)
 primary_id: OMIM:614886


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peroxisome biogenesis disorder 12A term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr 4:90,341,316...90,371,040
Ensembl chr 4:90,341,322...90,370,996 		JBrowse link
G CASQ1 calsequestrin 1 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr 4:90,276,752...90,288,990
Ensembl chr 4:90,276,757...90,288,250 		JBrowse link
G COPA COPI coat complex subunit alpha ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr 4:90,142,629...90,191,743
Ensembl chr 4:90,141,216...90,193,389 		JBrowse link
G DCAF8 DDB1 and CUL4 associated factor 8 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr 4:90,214,916...90,263,259
Ensembl chr 4:90,214,973...90,261,737 		JBrowse link
G NCSTN nicastrin ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr 4:90,121,209...90,142,934
Ensembl chr 4:90,119,002...90,142,890 		JBrowse link
G PEA15 proliferation and apoptosis adaptor protein 15 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) ClinVar PMID:28492532 NCBI chr 4:90,263,600...90,276,142
Ensembl chr 4:90,263,604...90,276,147 		JBrowse link
G PEX19 peroxisomal biogenesis factor 19 ISO ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A | ClinVar Annotator: match by term: Peroxisome biogenesis disorder 12A (Zellweger) OMIM
ClinVar		 PMID:9536098 PMID:10051604 PMID:16199547 PMID:17576681 PMID:20683989 More... NCBI chr 4:90,196,986...90,213,308
Ensembl chr 4:90,195,852...90,205,215 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15277
    syndrome 9945
      Zellweger syndrome 112
        peroxisome biogenesis disorder 12A 7
Path 2
Term Annotations click to browse term
  disease 15277
    disease of anatomical entity 14911
      nervous system disease 12992
        central nervous system disease 11644
          brain disease 10936
            Metabolic Brain Diseases 1454
              Metabolic Brain Diseases, Inborn 1330
                Zellweger syndrome 112
                  peroxisome biogenesis disorder 12A 7
paths to the root