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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 ClinVar Annotator: match by term: Autosomal recessive Parkinson disease 14 | ClinVar Annotator: match by term: DYSTONIA-PARKINSONISM, ADULT-ONSET OMIM
ClinVar		 PMID:2668131 PMID:16783378 PMID:18359254 PMID:18414213 PMID:18443314 More... NCBI chrNW_004624752:9,792,778...9,841,817
Ensembl chrNW_004624752:9,792,807...9,843,457 		JBrowse link
G Slc39a14 solute carrier family 39 member 14 ISO CTD Direct Evidence: marker/mechanism CTD PMID:36152728 NCBI chrNW_004624758:17,911,889...17,954,870
Ensembl chrNW_004624758:17,912,827...17,953,294 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14208
    Pathological Conditions, Signs and Symptoms 11236
      Signs and Symptoms 9449
        Neurologic Manifestations 9152
          Dyskinesias 2029
            dystonia 470
              Parkinson's disease 14 2
Path 2
Term Annotations click to browse term
  disease 14208
    disease of anatomical entity 13924
      nervous system disease 12255
        central nervous system disease 10971
          brain disease 10296
            basal ganglia disease 1061
              Parkinsonism 401
                Parkinson's disease 321
                  late onset Parkinson's disease 24
                    Parkinson's disease 14 2
paths to the root