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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:9536098 PMID:15541308 PMID:15541309 PMID:15680455 PMID:15680456 PMID:15680457 PMID:15726496 PMID:15732108 PMID:15811455 PMID:15852371 PMID:15880653 PMID:15929036 PMID:15955629 PMID:16001413 PMID:16003110 PMID:16102999 PMID:16115731 PMID:16145815 PMID:16157901 PMID:16157908 PMID:16157909 PMID:16172858 PMID:16240353 PMID:16251215 PMID:16269541 PMID:16272164 PMID:16272257 PMID:16298482 PMID:16311269 PMID:16321986 PMID:16333314 PMID:16401756 PMID:16436781 PMID:16436782 PMID:16533964 PMID:16614029 PMID:16616379 PMID:16632201 PMID:16633828 PMID:16643318 PMID:16728648 PMID:16750377 PMID:16750929 PMID:16788020 PMID:16939701 PMID:16960813 PMID:16966501 PMID:16966502 PMID:17019612 PMID:17020475 PMID:17050822 PMID:17060595 PMID:17078063 PMID:17083102 PMID:17095157 PMID:17114044 PMID:17115391 PMID:17149743 PMID:17179858 PMID:17200152 PMID:17215492 PMID:17222106 PMID:17353388 PMID:17419834 PMID:17447891 PMID:17482357 PMID:17523199 PMID:17540608 PMID:17576681 PMID:17584768 PMID:17622782 PMID:17659642 PMID:17803033 PMID:17804834 PMID:17914064 PMID:17938369 PMID:18182054 PMID:18197194 PMID:18213618 PMID:18230735 PMID:18258746 PMID:18265005 PMID:18353371 PMID:18358451 PMID:18412265 PMID:18445495 PMID:18539534 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:19412725 PMID:19472409 PMID:19489756 PMID:19513331 PMID:19667187 PMID:19699188 PMID:19741132 PMID:19800393 PMID:20008657 PMID:20130188 PMID:20177695 PMID:20186690 PMID:20197411 PMID:20301387 PMID:20443975 PMID:20642453 PMID:20669299 PMID:20721913 PMID:20881132 PMID:20933457 PMID:21060682 PMID:21115957 PMID:21168496 PMID:21248115 PMID:21280089 PMID:21362567 PMID:21378983 PMID:21406209 PMID:21494637 PMID:21538529 PMID:21632271 PMID:21658387 PMID:21661047 PMID:21686713 PMID:21714003 PMID:21753159 PMID:21753163 PMID:21796139 PMID:21885347 PMID:21954089 PMID:22194196 PMID:22251894 PMID:22415848 PMID:22445250 PMID:22539006 PMID:22575234 PMID:22773119 PMID:22914834 PMID:22988866 PMID:22988870 PMID:23075850 PMID:23241745 PMID:23396536 PMID:23472874 PMID:23726462 PMID:23813973 PMID:23913756 PMID:23963289 PMID:24033266 PMID:24123150 PMID:24148854 PMID:24243757 PMID:24470158 PMID:24488318 PMID:24565865 PMID:24695735 PMID:24821816 PMID:24863511 PMID:25027012 PMID:25107341 PMID:25243190 PMID:25309331 PMID:25330404 PMID:25330418 PMID:25378673 PMID:25401981 PMID:25416817 PMID:25434972 PMID:25446991 PMID:25493281 PMID:25540317 PMID:25741868 PMID:25821816 PMID:25836420 PMID:26062626 PMID:26251043 PMID:26269629 PMID:26365310 PMID:26467025 PMID:26651604 PMID:26824392 PMID:26930193 PMID:27094865 PMID:27111571 PMID:27832104 PMID:28103901 PMID:28166811 PMID:28321439 PMID:28465860 PMID:28492532 PMID:28821568 PMID:28973664 PMID:29129681 PMID:29248340 PMID:29369408 PMID:29386392 PMID:29387348 PMID:29627023 PMID:29859640 PMID:29907646 PMID:30039155 PMID:30045977 PMID:30046008 PMID:30507963 PMID:30639209, 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 16909
    Developmental Disease 10557
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8872
        genetic disease 8389
          monogenic disease 6330
            autosomal genetic disease 5485
              autosomal dominant disease 3709
                Parkinson's disease 8 1
Path 2
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      nervous system disease 11853
        central nervous system disease 10192
          brain disease 9565
            movement disease 1237
              Parkinsonism 369
                Parkinson's disease 292
                  late onset Parkinson's disease 28
                    Parkinson's disease 8 1
paths to the root