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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: MIM: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 IAGP ClinVar Annotator: match by term: Alzheimer disease 18 ClinVar
OMIM		 PMID:19608551 PMID:24055016 PMID:25741868 NCBI chr15:58,588,809...58,749,707
Ensembl chr15:58,588,809...58,749,791 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 97458
    Diseases of the Aged 2970
      dementia 1279
        Alzheimer's disease 755
          Alzheimer's disease 18 1
Path 2
Term Annotations click to browse term
  disease 97458
    disease of anatomical entity 91107
      nervous system disease 53117
        central nervous system disease 38460
          brain disease 36163
            disease of mental health 29602
              cognitive disorder 9873
                dementia 1279
                  Alzheimer's disease 755
                    Alzheimer's disease 18 1
paths to the root