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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 18
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Accession:DOID:0110050 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. (DO)
Synonyms:exact_synonym: AD18;   Alzheimer disease 18;   Alzheimer's disease 18, late onset;   late-onset Alzheimer disease-18
 primary_id: OMIM:615590


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Alzheimer's disease 18 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Alzheimer disease 18
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:19608551 PMID:24055016 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    Diseases of the Aged 1476
      dementia 874
        Alzheimer's disease 499
          Alzheimer's disease 18 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            disease of mental health 8327
              cognitive disorder 2302
                dementia 874
                  Alzheimer's disease 499
                    Alzheimer's disease 18 1
paths to the root