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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 17126
    Diseases of the Aged 1285
      dementia 708
        Alzheimer's disease 489
          Alzheimer's disease 9 1
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              cognitive disorder 1946
                dementia 708
                  Alzheimer's disease 489
                    Alzheimer's disease 9 1
paths to the root