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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 8
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Accession:DOID:0060371 term browser browse the term
Definition:A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. (DO)
Synonyms:exact_synonym: LRRK2-RELATED CONDITION;   PARK8;   Parkinson disease 8;   autosomal dominant Parkinson disease 8;   autosomal dominant Parkinson's disease 8
 primary_id: MESH:C564631
 alt_id: OMIM:607060
 xref: NCI:C198605


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Parkinson's disease 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lrrk2 leucine-rich repeat kinase 2 ISO
ISS		 DNA:missense mutation:cds:p.G2385R (human)
CTD Direct Evidence: marker/mechanism
OMIM:607060
ClinVar Annotator: match by term: Autosomal dominant Parkinson disease 8 | ClinVar Annotator: match by term: LRRK2-related condition		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:7898705 PMID:9276200 PMID:9536098 PMID:15541308 PMID:15541309 More... RGD:5508405 NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          monogenic disease 10420
            autosomal genetic disease 9578
              autosomal dominant disease 6310
                Parkinson's disease 8 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            movement disease 2583
              Parkinsonism 453
                Parkinson's disease 372
                  late onset Parkinson's disease 28
                    Parkinson's disease 8 1
paths to the root