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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: PARK14;   autosomal recessive Parkinson disease 14;   autosomal recessive Parkinson's disease 14
 broad_synonym: adult-onset dystonia-parkinsonism
 xref: MESH:C567844;   MIM:612953;   MONDO:0013060;   NCI:C201519


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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
ISS 		OMIM:612953
ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET 		OMIM
MouseDO
ClinVar		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chr 7:112,731,803...112,771,978
Ensembl chr 7:112,731,803...112,771,609 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chr15:51,786,517...51,833,260
Ensembl chr15:51,786,623...51,833,229 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14566
    Pathological Conditions, Signs and Symptoms 9149
      Signs and Symptoms 6804
        Neurologic Manifestations 5934
          Dyskinesias 787
            dystonia 103
              Parkinson's disease 14 2
Path 2
Term Annotations click to browse term
  disease 14566
    disease of anatomical entity 13676
      nervous system disease 8528
        central nervous system disease 6393
          brain disease 5852
            basal ganglia disease 585
              Parkinsonism 354
                Parkinson's disease 271
                  late onset Parkinson's disease 25
                    Parkinson's disease 14 2
paths to the root