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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 CTD Direct Evidence: marker/mechanism
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		 CTD
OMIM
ClinVar		 PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    Diseases of the Aged 1467
      dementia 870
        Alzheimer's disease 496
          Alzheimer's disease 2 1
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              cognitive disorder 2280
                dementia 870
                  Alzheimer's disease 496
                    Alzheimer's disease 2 1
paths to the root