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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;   RDO:0001136
For additional species annotation, visit the Alliance of Genome Resources.



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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
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17445
    syndrome 8267
      Pseudo-Zellweger Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17445
    disease of anatomical entity 16777
      nervous system disease 12215
        central nervous system disease 10506
          brain disease 9870
            Metabolic Brain Diseases 611
              Metabolic Brain Diseases, Inborn 540
                Zellweger syndrome 27
                  Pseudo-Zellweger Syndrome 1
paths to the root