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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: PARK8;   Parkinson disease 8;   autosomal dominant Parkinson disease 8;   autosomal dominant Parkinson's disease 8
 primary_id: MESH:C564631
 alt_id: OMIM:607060
For additional species annotation, visit the Alliance of Genome Resources.


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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 DNA:missense mutation:cds:p.G2385R (human)
ClinVar Annotator: match by OMIM:607060
ClinVar Annotator: match by term: Parkinson disease 8, autosomal dominant
OMIM
ClinVar
PMID:7898705, PMID:9276200, PMID:15541308, PMID:15541309, PMID:15680455, PMID:15680456, PMID:15680457, PMID:15726496, PMID:15732108, PMID:15811455, PMID:15852371, PMID:15880653, PMID:15929036, PMID:16003110, PMID:16102999, PMID:16145815, PMID:16157901, PMID:16157908, PMID:16157909, PMID:16172858, PMID:16240353, PMID:16251215, PMID:16269541, PMID:16272164, PMID:16272257, PMID:16311269, PMID:16321986, PMID:16333314, PMID:16401756, PMID:16436781, PMID:16436782, PMID:16533964, PMID:16616379, PMID:16633828, PMID:16728648, PMID:16750377, PMID:16788020, PMID:16960813, PMID:16966502, PMID:17019612, PMID:17050822, PMID:17060595, PMID:17078063, PMID:17149743, PMID:17179858, PMID:17200152, PMID:17215492, PMID:17222106, PMID:17353388, PMID:17419834, PMID:17447891, PMID:17482357, PMID:17523199, PMID:17540608, PMID:17622782, PMID:17659642, PMID:17803033, PMID:17804834, PMID:17914064, PMID:17938369, PMID:18197194, PMID:18213618, PMID:18230735, PMID:18265005, PMID:18358451, PMID:18412265, PMID:18539535, PMID:18591067, PMID:18675914, PMID:18688798, PMID:18704525, PMID:18716801, PMID:18752982, PMID:18781329, PMID:18923807, PMID:18973807, PMID:18981379, PMID:18986508, PMID:19006185, PMID:19020907, PMID:19283415, PMID:19308469, PMID:19357115, PMID:19405094, PMID:19472409, PMID:19489756, PMID:19667187, PMID:19699188, PMID:19800393, PMID:20008657, PMID:20177695, PMID:20186690, PMID:20197411, PMID:20301387, PMID:20443975, PMID:20642453, PMID:20669299, PMID:20721913, PMID:21060682, PMID:21115957, PMID:21406209, PMID:21494637, PMID:21538529, PMID:21632271, PMID:21658387, PMID:21661047, PMID:21796139, PMID:21885347, PMID:22251894, PMID:22415848, PMID:22445250, PMID:22539006, PMID:22575234, PMID:22988866, PMID:22988870, PMID:23075850, PMID:23241745, PMID:23396536, PMID:23472874, PMID:23726462, PMID:23913756, PMID:23963289, PMID:24033266, PMID:24243757, PMID:24470158, PMID:24488318, PMID:24565865, PMID:24695735, PMID:24821816, PMID:24863511, PMID:25027012, PMID:25107341, PMID:25243190, PMID:25309331, PMID:25330418, PMID:25378673, PMID:25493281, PMID:25741868, PMID:25821816, PMID:26251043, PMID:26467025, PMID:26930193, PMID:27094865, PMID:27111571, PMID:27832104, PMID:28103901, PMID:28492532, PMID:29248340, PMID:29369408, PMID:29859640, PMID:30039155, PMID:30311386, PMID:21796139 RGD:5508405 NCBI chr 7:132,857,311...133,018,549
Ensembl chr 7:132,857,628...133,018,584
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          monogenic disease 5678
            autosomal genetic disease 4699
              autosomal dominant disease 3029
                Parkinson's disease 8 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            movement disease 1159
              Parkinsonian Disorders 330
                Parkinson's disease 250
                  late onset Parkinson's disease 24
                    Parkinson's disease 8 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.