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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 9
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Accession:DOID:0111364 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in heterozygous mutation in ABCA7 on chromosome 19p13.3. (DO)
Synonyms:exact_synonym: AD9;   Alzheimer Disease 9, Late-Onset;   Alzheimer disease 9;   Alzheimer's disease 9, late onset
 related_synonym: Alzheimer disease 9, susceptibility to
 primary_id: MESH:C563834
 alt_id: OMIM:608907
For additional species annotation, visit the Alliance of Genome Resources.


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Alzheimer's disease 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 susceptibility ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET
OMIM
CTD
ClinVar
PMID:25741868, PMID:25807283, PMID:26141617, PMID:27066581, PMID:28492532 NCBI chr 7:12,742,433...12,762,423
Ensembl chr 7:12,742,433...12,762,341
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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 9 1
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 9 1
paths to the root

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