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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 1
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Accession:DOID:0080348 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21. (DO)
Synonyms:exact_synonym: AD1;   Alzheimer Disease Type 1;   Alzheimer disease 1;   Alzheimer's Disease Type 1;   Alzheimer's disease 1, early onset;   early-onset familial form of Alzheimer disease
 narrow_synonym: Alzheimer's Disease, Familial, 1
 related_synonym: APP POLYMORPHISM
 primary_id: MESH:C536594
 alt_id: DOID:9005726;   OMIM:104300


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Alzheimer's disease 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: APP POLYMORPHISM | ClinVar Annotator: match by term: Alzheimer disease type 1 OMIM
ClinVar		 PMID:1303172 PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561 		JBrowse link
G Hfe homeostatic iron regulator ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:678784 PMID:8696333 PMID:8896549 PMID:8896550 PMID:8931958 More... NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502 		JBrowse link
G Mpo myeloperoxidase ISO OMIM NCBI chr10:72,594,883...72,608,862
Ensembl chr10:72,594,661...72,604,819 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:25741868 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Plau plasminogen activator, urokinase susceptibility ISO OMIM NCBI chr15:3,456,230...3,462,732
Ensembl chr15:3,456,232...3,462,775 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21118
    Diseases of the Aged 1469
      dementia 872
        Alzheimer's disease 498
          Alzheimer's disease 1 5
Path 2
Term Annotations click to browse term
  disease 21118
    disease of anatomical entity 18162
      nervous system disease 14001
        central nervous system disease 12351
          brain disease 11585
            disease of mental health 8248
              cognitive disorder 2281
                dementia 872
                  Alzheimer's disease 498
                    Alzheimer's disease 1 5
paths to the root