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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 and Apraxia
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Accession:DOID:9003065 term browser browse the term
Synonyms:exact_synonym: Alzheimer disease, familial, 3, with spastic paraparesis and apraxia
 primary_id: MESH:C564330


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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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19100
    Diseases of the Aged 1475
      dementia 876
        Alzheimer's disease 501
          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
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      nervous system disease 14334
        central nervous system disease 12604
          brain disease 11833
            disease of mental health 8425
              cognitive disorder 2316
                dementia 876
                  Alzheimer's disease 501
                    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
paths to the root