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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 2
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Accession:DOID:0110035 term browser browse the term
Definition:An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. (DO)
Synonyms:exact_synonym: AD2;   Alzheimer Disease 2;   Alzheimer Disease 2, Late-Onset;   Alzheimer Disease Associated With Apoe4;   Alzheimer Disease Type 2;   Alzheimer disease associated with APOE E4;   Alzheimer's Disease Type 2;   late-onset familial Alzheimer disease
 related_synonym: BCHE, K VARIANT;   CHE*539T
 primary_id: MESH:C536595
 alt_id: OMIM:104310

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Alzheimer's disease 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Alzheimer disease 2 | ClinVar Annotator: match by term: Alzheimer disease associated with APOE E4 | ClinVar Annotator: match by term: Late-onset familial alzheimer disease ClinVar
OMIM		 PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chrNW_004955555:1,998,170...2,002,003
Ensembl chrNW_004955555:1,999,711...2,001,888 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Diseases of the Aged 1159
      dementia 783
        Alzheimer's disease 445
          Alzheimer's disease 2 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              cognitive disorder 1967
                dementia 783
                  Alzheimer's disease 445
                    Alzheimer's disease 2 1
paths to the root