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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 14
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Accession:DOID:0060900 term browser browse the term
Definition:A late-onset Parkinson disease that has_material_basis_in homozygous mutation in the PLA2G6 gene on chromosome 22q13. (DO)
Synonyms:exact_synonym: DYSTONIA-PARKINSONISM, ADULT-ONSET;   PARK14;   autosomal recessive Parkinson disease 14;   autosomal recessive Parkinson's disease 14
 primary_id: MESH:C567844
 alt_id: OMIM:612953;   RDO:0009732;   RDO:0012061
For additional species annotation, visit the Alliance of Genome Resources.


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Parkinson's disease 14 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pla2g6 phospholipase A2 group VI ISO ClinVar Annotator: match by OMIM:612953
ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET
OMIM
ClinVar
PMID:18570303 PMID:18981035 PMID:20669327 PMID:20886109 PMID:20938027 PMID:21700586 PMID:24088041 PMID:25741868 PMID:26196026 PMID:26633545 PMID:26668131 PMID:27268037 PMID:28492532 PMID:30302010 PMID:32860008 NCBI chr 7:120,519,479...120,559,716
Ensembl chr 7:120,519,467...120,559,347
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    Pathological Conditions, Signs and Symptoms 8759
      Signs and Symptoms 5203
        Neurologic Manifestations 4131
          Dyskinesias 792
            dystonia 128
              Parkinson's disease 14 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      nervous system disease 10948
        central nervous system disease 9061
          brain disease 8367
            basal ganglia disease 565
              Parkinsonian Disorders 331
                Parkinson's disease 254
                  late onset Parkinson's disease 28
                    Parkinson's disease 14 1
paths to the root