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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
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
ClinVar Annotator: match by term: Alzheimer disease, type 4
ClinVar Annotator: match by term: Alzheimer disease familial type 4
CTD
ClinVar
PMID:2987927 PMID:3922972 PMID:7263700 PMID:8346443 PMID:8618665 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 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 More... NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
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
OMIM
ClinVar
PMID:7550356 PMID:7638622 PMID:7651536 PMID:8661049 PMID:8939861 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 17435
    Diseases of the Aged 1291
      dementia 712
        Alzheimer's disease 491
          Alzheimer's disease 4 3
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              cognitive disorder 1969
                dementia 712
                  Alzheimer's disease 491
                    Alzheimer's disease 4 3
paths to the root