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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 25
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Accession:DOID:0070486 term browser browse the term
Definition:An early-onset Parkinson's disease characterized by mild to moderately impaired intellectual development that has_material_basis_in homozygous or compound heterozygous mutation in the PTPA gene on chromosome 9q34.11. (DO)
Synonyms:exact_synonym: PARK25;   autosomal recessive early-onset Parkinson disease 25 with impaired intellectual development
 primary_id: OMIM:620482
 alt_id: DOID:9008253


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Parkinson's disease 25 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ptpa protein phosphatase 2 phosphatase activator ISO ClinVar Annotator: match by term: Parkinson disease 25, autosomal recessive early-onset, with impaired intellectual development OMIM
ClinVar		 PMID:36073231 NCBI chr 3:13,689,742...13,720,287
Ensembl chr 3:13,689,741...13,722,549 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14401
      Neurodevelopmental Disorders 6848
        intellectual disability 4300
          Parkinson's disease 25 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            movement disease 2584
              Parkinsonism 454
                Parkinson's disease 373
                  early-onset Parkinson's disease 100
                    Parkinson's disease 25 1
paths to the root