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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4		 CTD
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
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 chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Psen2 presenilin 2 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease 4 | ClinVar Annotator: match by term: Alzheimer disease familial type 4		 OMIM
CTD
ClinVar		 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 PMID:8986743 More... NCBI chr13:91,967,506...91,993,240
Ensembl chr13:91,967,983...91,993,174 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18976
    Diseases of the Aged 1474
      dementia 874
        Alzheimer's disease 499
          Alzheimer's disease 4 3
Path 2
Term Annotations click to browse term
  disease 18976
    disease of anatomical entity 18260
      nervous system disease 14116
        central nervous system disease 12429
          brain disease 11666
            disease of mental health 8318
              cognitive disorder 2302
                dementia 874
                  Alzheimer's disease 499
                    Alzheimer's disease 4 3
paths to the root