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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.



show annotations for term's descendants           Sort by:
 
Alzheimer's disease 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, type 1
ClinVar Annotator: match by term: APP POLYMORPHISM
ClinVar
OMIM
PMID:1303239 PMID:1303275 PMID:1415269 PMID:1520398 PMID:1634237 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 OMIM NCBI chr17:41,413,451...41,421,502
Ensembl chr17:41,413,451...41,421,502
JBrowse link
G Mpo myeloperoxidase ISO OMIM NCBI chr10:72,594,458...72,608,862
Ensembl chr10:72,594,661...72,604,819
JBrowse link
G Nos3 nitric oxide synthase 3 ISO OMIM 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
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 More... NCBI chr11:24,019,774...24,236,584
Ensembl chr11:24,019,778...24,236,561
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17286
    Diseases of the Aged 1291
      dementia 712
        Alzheimer's disease 491
          Alzheimer's disease 1 5
            Alzheimer's Disease, Familial, 1 1
Path 2
Term Annotations click to browse term
  disease 17286
    disease of anatomical entity 16621
      nervous system disease 12148
        central nervous system disease 10417
          brain disease 9778
            disease of mental health 7064
              cognitive disorder 1950
                dementia 712
                  Alzheimer's disease 491
                    Alzheimer's disease 1 5
                      Alzheimer's Disease, Familial, 1 1
paths to the root