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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, Familial, 3, with Spastic Paraparesis
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Accession:DOID:9006051 term browser browse the term
Synonyms:exact_synonym: Alzheimer disease 3, with spastic paraparesis;   Alzheimer disease, familial, 3, with spastic paraparesis


show annotations for term's descendants           Sort by:
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 PMID:27930341 PMID:28492532 PMID:34776449 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 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 21128
    Diseases of the Aged 1465
      dementia 873
        Alzheimer's disease 499
          Alzheimer's disease 3 4
            Alzheimer's Disease, Familial, 3, with Spastic Paraparesis 2
              Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia 2
              Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            disease of mental health 8301
              cognitive disorder 2300
                dementia 873
                  Alzheimer's disease 499
                    Alzheimer's disease 3 4
                      Alzheimer's Disease, Familial, 3, with Spastic Paraparesis 2
                        Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Apraxia 2
                        Alzheimer's Disease, Familial, 3, with Spastic Paraparesis and Unusual Plaques 1
paths to the root