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RGD uses the Human Disease Ontology (DO, 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
For additional species annotation, visit the Alliance of Genome Resources.

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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 CTD NCBI chr 1:80,612,894...80,616,820
Ensembl chr 1:80,612,895...80,617,057
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by synonym: ALZHEIMER DISEASE, FAMILIAL, 4
ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar PMID:8910898, PMID:9189043, PMID:9804121, PMID:15205973, PMID:27777022, PMID:27930341, PMID:28350801, PMID:28492532 NCBI chr 6:107,169,514...107,221,000
Ensembl chr 6:107,169,528...107,216,798
JBrowse link
G Psen2 presenilin 2 ISO ClinVar Annotator: match by OMIM:606889
ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar Annotator: match by term: Alzheimer disease familial type 4
PMID:7550356, PMID:7638622, PMID:7651536, PMID:8661049, PMID:8939861, PMID:8986743, PMID:9050898, PMID:9384602, PMID:9450781, PMID:9813158, PMID:10631141, PMID:10846187, PMID:11193137, PMID:11723295, PMID:12549925, PMID:12925374, PMID:14623725, PMID:14681895, PMID:14769392, PMID:15130954, PMID:15389756, PMID:15663477, PMID:15776278, PMID:16155344, PMID:16474849, PMID:16533963, PMID:16959576, PMID:17186461, PMID:17345043, PMID:18350357, PMID:18427071, PMID:18667258, PMID:18727676, PMID:18833506, PMID:18834536, PMID:19073399, PMID:19659892, PMID:20333730, PMID:20375137, PMID:20420489, PMID:20457965, PMID:20458010, PMID:20634584, PMID:21234330, PMID:21483645, PMID:21544564, PMID:21559247, PMID:21911706, PMID:21959359, PMID:22115042, PMID:22118943, PMID:22249458, PMID:22312439, PMID:22412221, PMID:22475797, PMID:22503161, PMID:22505025, PMID:22753229, PMID:22805202, PMID:22834455, PMID:23365231, PMID:23383383, PMID:23558482, PMID:23861362, PMID:23990795, PMID:24093083, PMID:24559647, PMID:24594196, PMID:24669286, PMID:24704512, PMID:24754482, PMID:24844686, PMID:24880964, PMID:24928124, PMID:25104557, PMID:25323700, PMID:25604855, PMID:25741868, PMID:25937274, PMID:26166204, PMID:26242991, PMID:26467025, PMID:26507310, PMID:26899768, PMID:27060961, PMID:27293189, PMID:27883225, PMID:28008242, PMID:28243073, PMID:28350801, PMID:28492532, PMID:29181857, PMID:30045758, PMID:30279455, PMID:30412492, PMID:30822648, PMID:30954774, PMID:31020001, PMID:225104557 NCBI chr13:98,513,600...98,539,347
Ensembl chr13:98,513,570...98,530,724
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Diseases of the Aged 1250
      dementia 672
        Alzheimer's disease 480
          Alzheimer's disease 4 3
Path 2
Term Annotations click to browse term
  disease 16108
    disease of anatomical entity 15356
      nervous system disease 10865
        central nervous system disease 9008
          brain disease 8330
            disease of mental health 5993
              cognitive disorder 1915
                dementia 672
                  Alzheimer's disease 480
                    Alzheimer's disease 4 3
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.