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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 4
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Accession:DOID:0110040 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. (DO)
Synonyms:exact_synonym: AD4;   Alzheimer disease 4;   Alzheimer disease type 4;   Alzheimer disease, familial, 4;   Alzheimer disease, familial, type 4;   Alzheimer disease, familial4;   Alzheimer's disease 4, early onset;   Alzheimer's disease type 4
 primary_id: MESH:C536596
 alt_id: OMIM:606889
 xref: NCI:C123413


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Alzheimer's disease 4 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 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 ClinVar PMID:2987927 PMID:3353383 PMID:3922972 PMID:7263700 PMID:8294487 More... NCBI chr19:41,853,669...41,857,252
Ensembl chr19:50,459,906...50,463,490 		JBrowse link
G PSEN1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease 4 ClinVar PMID:8910898 PMID:9189043 PMID:9437013 PMID:9804121 PMID:10468510 More... NCBI chr14:53,718,299...53,802,684
Ensembl chr14:72,579,024...72,663,876 		JBrowse link
G PSEN2 presenilin 2 ISO ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4 OMIM
ClinVar		 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 More... NCBI chr 1:202,328,987...202,354,440
Ensembl chr 1:207,320,937...207,346,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Diseases of the Aged 1232
      dementia 835
        Alzheimer's disease 471
          Alzheimer's disease 4 3
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            disease of mental health 8111
              cognitive disorder 2153
                dementia 835
                  Alzheimer's disease 471
                    Alzheimer's disease 4 3
paths to the root