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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:Pseudo-Zellweger Syndrome
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Accession:DOID:9008301 term browser browse the term
Synonyms:exact_synonym: Pseudo Zellweger syndrome leukodystrophy
 primary_id: MESH:C535818


show annotations for term's descendants           Sort by:
Pseudo-Zellweger Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hsd17b4 hydroxysteroid (17-beta) dehydrogenase 4 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:9482850 PMID:9915948 PMID:10419023 PMID:10497229 PMID:16385454 More... NCBI chr18:43,328,903...43,417,950
Ensembl chr18:43,328,824...43,417,952 		JBrowse link
G Scn9a sodium voltage-gated channel alpha subunit 9 ISO ClinVar Annotator: match by term: Pseudo Zellweger syndrome ClinVar PMID:16385454 PMID:17167479 PMID:17470132 PMID:19304393 PMID:25309764 More... NCBI chr 3:51,145,148...51,293,342
Ensembl chr 3:51,145,146...51,293,516 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    syndrome 10725
      Pseudo-Zellweger Syndrome 2
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            Metabolic Brain Diseases 1457
              Metabolic Brain Diseases, Inborn 1325
                Zellweger syndrome 90
                  Pseudo-Zellweger Syndrome 2
paths to the root