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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 in the gene encoding the amyloid precursor protein on chromosome 21q. (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 DISEASE, FAMILIAL, 1
 related_synonym: APP POLYMORPHISM
 primary_id: MESH:C536594
 alt_id: OMIM:104300
For additional species annotation, visit the Alliance of Genome Resources.


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Alzheimer's disease 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G A2m alpha-2-macroglobulin ISO OMIM NCBI chr 4:154,309,426...154,359,138
Ensembl chr 4:154,309,426...154,359,137
JBrowse link
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: Alzheimer disease, type 1
ClinVar Annotator: match by term: APP POLYMORPHISM
ClinVar
OMIM
PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1634237 PMID:1671712 PMID:1678057 PMID:1678058 PMID:1679288 PMID:1908231 PMID:1925564 PMID:1944558 PMID:7686976 PMID:7806491 PMID:7845465 PMID:8154870 PMID:8290965 PMID:8499923 PMID:8886002 PMID:9328472 PMID:9754958 PMID:9848098 PMID:10097173 PMID:10441572 PMID:10611368 PMID:10821838 PMID:10867787 PMID:11063718 PMID:11311152 PMID:11487570 PMID:11528419 PMID:11568920 PMID:11910111 PMID:11978821 PMID:12034808 PMID:15119738 PMID:15365148 PMID:15488330 PMID:15502844 PMID:15668448 PMID:15776278 PMID:16505331 PMID:18413473 PMID:18437002 PMID:19281847 PMID:19363265 PMID:20452985 PMID:22503161 PMID:22702962 PMID:23224319 PMID:23515184 PMID:24033266 PMID:24390130 PMID:24524897 PMID:24650794 PMID:24677022 PMID:24694184 PMID:24880964 PMID:25138979 PMID:25948718 PMID:26402770 PMID:26467025 PMID:26803359 PMID:27838006 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30279455 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link
G Hfe homeostatic iron regulator ISO OMIM NCBI chr17:43,661,276...43,669,327
Ensembl chr17:43,661,222...43,669,985
JBrowse link
G Mpo myeloperoxidase ISO OMIM NCBI chr10:75,087,892...75,098,260
Ensembl chr10:75,087,892...75,098,260
JBrowse link
G Nos3 nitric oxide synthase 3 ISO OMIM NCBI chr 4:7,321,908...7,342,404
Ensembl chr 4:7,320,668...7,342,410
JBrowse link
G Plau plasminogen activator, urokinase ISO OMIM NCBI chr15:3,644,296...3,650,765
Ensembl chr15:3,644,769...3,650,819
JBrowse link
Alzheimer's Disease, Familial, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G App amyloid beta precursor protein ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 1 ClinVar PMID:1303239 PMID:1303275 PMID:8499923 PMID:9754958 PMID:9848098 PMID:10821838 PMID:11311152 PMID:11528419 PMID:15365148 PMID:15488330 PMID:15502844 PMID:18413473 PMID:19363265 PMID:23224319 PMID:24033266 PMID:25948718 PMID:26402770 PMID:26467025 PMID:26803359 PMID:28304299 PMID:28350801 PMID:28492532 PMID:29263818 PMID:29859640 PMID:30279455 NCBI chr11:24,425,013...24,641,872
Ensembl chr11:24,425,005...24,641,858
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    Diseases of the Aged 1258
      dementia 678
        Alzheimer's disease 479
          Alzheimer's disease 1 6
            Alzheimer's Disease, Familial, 1 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      nervous system disease 10967
        central nervous system disease 9119
          brain disease 8448
            disease of mental health 6088
              cognitive disorder 1921
                dementia 678
                  Alzheimer's disease 479
                    Alzheimer's disease 1 6
                      Alzheimer's Disease, Familial, 1 1
paths to the root