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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 1;   Alzheimer disease type 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
 broad_synonym: APP-RELATED CONDITION
 related_synonym: APP POLYMORPHISM;   BLEOMYCIN HYDROLASE POLYMORPHISM
 alt_id: DOID:9005726
 xref: MESH:C536594;   MIM:104300;   MONDO:0007088


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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: APP-related condition | 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 Blmh bleomycin hydrolase ISO ClinVar Annotator: match by term: BLEOMYCIN HYDROLASE POLYMORPHISM ClinVar PMID:8639621 PMID:25741868 NCBI chr10:61,772,112...61,815,212
Ensembl chr10:61,758,478...61,815,212 		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 Lpo lactoperoxidase ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar PMID:6260268 PMID:9766845 PMID:15108282 PMID:24033266 PMID:25741868 More... NCBI chr10:72,606,950...72,626,220
Ensembl chr10:72,606,944...72,626,535 		JBrowse link
G Mpo myeloperoxidase susceptibility ISO ClinVar Annotator: match by term: Alzheimer disease type 1 ClinVar
OMIM		 PMID:6260268 PMID:7904599 PMID:8142659 PMID:8621627 PMID:9468285 More... 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 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 19099
    Diseases of the Aged 1475
      dementia 876
        Alzheimer's disease 501
          Alzheimer's disease 1 7
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              cognitive disorder 2316
                dementia 876
                  Alzheimer's disease 501
                    Alzheimer's disease 1 7
paths to the root