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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:Alzheimer's disease 19
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Accession:DOID:0110051 term browser browse the term
Definition:An Alzheimer's disease that is characterized by associated variants of the gene PLD3. (DO)
Synonyms:exact_synonym: AD19;   Alzheimer Disease 19;   Alzheimer disease 19 late onset
 related_synonym: ALZHEIMER DISEASE 19, SUSCEPTIBILITY TO
 primary_id: OMIM:615711;   RDO:9001334


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Alzheimer's disease 19 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pld3 phospholipase D family, member 3 ISO ClinVar Annotator: match by term: Alzheimer disease 19 ClinVar PMID:24336208 PMID:25832408 PMID:25832410 PMID:25832411 PMID:28492532 NCBI chr 1:82,821,863...82,844,280
Ensembl chr 1:82,821,875...82,844,072 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    Diseases of the Aged 1469
      dementia 872
        Alzheimer's disease 498
          Alzheimer's disease 19 1
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        central nervous system disease 12351
          brain disease 11585
            disease of mental health 8248
              cognitive disorder 2281
                dementia 872
                  Alzheimer's disease 498
                    Alzheimer's disease 19 1
paths to the root