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ONTOLOGY REPORT - ANNOTATIONS


Term:Alzheimer's disease 3
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Accession:DOID:0110042 term browser browse the term
Definition:An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. (DO)
Synonyms:exact_synonym: AD3;   Alzheimer disease 3;   Alzheimer disease 3, early-onset;   Alzheimer disease familial 3;   Alzheimer disease, familial, type 3;   Alzheimer disease, type 3
 primary_id: MESH:C536598
 alt_id: OMIM:607822;   RDO:0013334
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Alzheimer's disease 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Kif5c kinesin family member 5C JBrowse link 3 35,014,157 35,257,417 RGD:12859086
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:7240710
RGD:8554872
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:8554872
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:11554173
RGD:8554872
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15599
    Diseases of the Aged 1171
      dementia 618
        Alzheimer's disease 476
          Alzheimer's disease 3 2
            Alzheimer's Disease, Familial, 3, with Spastic Paraparesis + 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            disease of mental health 5500
              cognitive disorder 1842
                dementia 618
                  Alzheimer's disease 476
                    Alzheimer's disease 3 2
                      Alzheimer's Disease, Familial, 3, with Spastic Paraparesis + 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.