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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 the ABCA7 gene 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

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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 ClinVar Annotator: match by term: ALZHEIMER DISEASE 9, LATE-ONSET | ClinVar Annotator: match by term: Alzheimer disease 9 OMIM
ClinVar		 PMID:25741868 PMID:25807283 PMID:26141617 PMID:27066581 PMID:28492532 More... NCBI chrNW_004955495:6,818,002...6,838,177
Ensembl chrNW_004955495:6,815,562...6,836,772 		JBrowse link
G Sorl1 sortilin related receptor 1 ISO ClinVar Annotator: match by term: Alzheimer disease 9 ClinVar PMID:28789839 NCBI chrNW_004955412:22,421,984...22,576,179
Ensembl chrNW_004955412:22,421,984...22,576,179 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Diseases of the Aged 1159
      dementia 783
        Alzheimer's disease 445
          Alzheimer's disease 9 2
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            disease of mental health 7327
              cognitive disorder 1967
                dementia 783
                  Alzheimer's disease 445
                    Alzheimer's disease 9 2
paths to the root