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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:primary progressive aphasia
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Accession:DOID:0081388 term browser browse the term
Definition:A frontotemporal dementia that characterized by the progressive onset of language impairments, and gradual deterioration of these abilities over time, associated with atrophy of the language network of the brain, including frontal, temporal, and parietal regions of the left hemisphere. It is caused by a loss of tissue (atrophy) in the area of the brain that is responsible for producing language. (DO)
Synonyms:exact_synonym: Mesulam Syndrome;   Mesulam's Syndrome;   Primary Progressive Aphasias
 related_synonym: Primary Progressive Aphasia, Susceptibility To
 primary_id: MESH:D018888
 alt_id: DOID:9008293
 xref: EFO:0009053;   GARD:8541;   ORDO:95432


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primary progressive aphasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G GRN granulin precursor ISO ClinVar Annotator: match by term: Primary progressive aphasia ClinVar PMID:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 More... NCBI chr 9:19,077,430...19,085,443
Ensembl chr 9:19,077,427...19,082,268 		JBrowse link
G PRNP prion protein ISO ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 More... NCBI chr24:16,845,224...16,862,319
Ensembl chr24:16,846,207...16,859,815 		JBrowse link
progressive non-fluent aphasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G TBK1 TANK binding kinase 1 ISO ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr10:7,169,664...7,208,890
Ensembl chr10:7,168,007...7,208,899 		JBrowse link
semantic dementia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MAPT microtubule associated protein tau ISO ClinVar Annotator: match by term: Semantic dementia ClinVar PMID:25741868 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15603
    Diseases of the Aged 1250
      dementia 852
        Frontotemporal Lobar Degeneration 168
          frontotemporal dementia 165
            primary progressive aphasia 4
              logopenic progressive aphasia 0
              progressive non-fluent aphasia 1
              semantic dementia 1
Path 2
Term Annotations click to browse term
  disease 15603
    disease of anatomical entity 15182
      nervous system disease 13239
        central nervous system disease 11877
          brain disease 11160
            disease of mental health 8084
              developmental disorder of mental health 5505
                specific developmental disorder 4478
                  communication disorder 386
                    language disorder 159
                      aphasia 6
                        primary progressive aphasia 4
                          logopenic progressive aphasia 0
                          progressive non-fluent aphasia 1
                          semantic dementia 1
paths to the root