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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:Parkinson's Disease, X-Linked Dominant
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Accession:DOID:9006820 term browser browse the term
Synonyms:exact_synonym: Parkinson Disease, X-Linked Dominant;   X-linked dominant Parkinson disease;   X-linked dominant Parkinson's disease
 primary_id: RDO:9000400


show annotations for term's descendants           Sort by:
Parkinson's Disease, X-Linked Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rab39b RAB39B, member RAS oncogene family ISO ClinVar Annotator: match by term: Parkinson disease, X-linked dominant ClinVar PMID:26399558 NCBI chr  X:74,615,651...74,621,837
Ensembl chr  X:74,615,652...74,621,837 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    Nutritional and Metabolic Diseases 7406
      disease of metabolism 7406
        Proteostasis Deficiencies 785
          synucleinopathy 402
            Parkinson's disease 370
              Parkinson's Disease, X-Linked Dominant 1
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      nervous system disease 13531
        central nervous system disease 12117
          brain disease 11377
            movement disease 2564
              Parkinsonism 452
                Parkinson's disease 370
                  Parkinson's Disease, X-Linked Dominant 1
paths to the root