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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 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
 narrow_synonym: EARLY ONSET ALZHEIMER DISEASE WITH BEHAVIORAL DISTURBANCE
 primary_id: MESH:C536598
 alt_id: OMIM:607822
 xref: NCI:C123412


show annotations for term's descendants           Sort by:
Alzheimer's disease 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 OMIM
ClinVar		 PMID:8488843 PMID:9279208 PMID:9360638 PMID:10432380 PMID:10529625 More... NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Kif5c kinesin family member 5C ISO protein:decreased expression:cerebellum (human) RGD PMID:24569455 RGD:12859086 NCBI chr 3:34,032,082...34,185,597
Ensembl chr 3:34,032,105...34,182,413 		JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance ClinVar PMID:18412265 PMID:18688798 PMID:18716801 PMID:18781329 PMID:19699188 More... NCBI chr 7:122,826,696...122,987,711
Ensembl chr 7:122,826,696...122,987,703 		JBrowse link
G Psen1 presenilin 1 ISO
ISS		 ClinVar Annotator: match by term: ALZHEIMER DISEASE, FAMILIAL, 3 | ClinVar Annotator: match by term: Alzheimer disease 3 | ClinVar Annotator: match by term: Early onset Alzheimer disease with behavioral disturbance
OMIM:607822		 OMIM
ClinVar
MouseDO		 PMID:1985297 PMID:2025423 PMID:2793034 PMID:7550356 PMID:7581374 More... NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease familial 3, with spastic paraparesis ClinVar PMID:24121961 PMID:25741868 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 1:79,353,924...79,357,852
Ensembl chr 1:79,353,916...79,357,932 		JBrowse link
G Psen1 presenilin 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia		 CTD
ClinVar		 PMID:11920851 PMID:15534188 PMID:25741868 NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, 3, with unusual plaques | ClinVar Annotator: match by term: Alzheimer disease, familial, with spastic paraparesis and unusual plaques ClinVar PMID:7550356 PMID:8733749 PMID:8755489 PMID:9172170 PMID:9546792 More... NCBI chr 6:103,323,052...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21122
    Diseases of the Aged 1467
      dementia 870
        Alzheimer's disease 496
          Alzheimer's disease 3 4
            Alzheimer's Disease, Familial, 3, with Spastic Paraparesis + 2
Path 2
Term Annotations click to browse term
  disease 21122
    disease of anatomical entity 18162
      nervous system disease 14004
        central nervous system disease 12353
          brain disease 11587
            disease of mental health 8249
              cognitive disorder 2280
                dementia 870
                  Alzheimer's disease 496
                    Alzheimer's disease 3 4
                      Alzheimer's Disease, Familial, 3, with Spastic Paraparesis + 2
paths to the root