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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 Nonfluent Aphasia
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Accession:DOID:9003457 term browser browse the term
Definition:A form of frontotemporal lobar degeneration and a progressive form of dementia characterized by motor speech impairment and AGRAMMATISM, with relative sparing of single word comprehension and semantic memory.
Synonyms:exact_synonym: Non fluent Primary Progressive Aphasia;   PPA Syndrome;   PPA Syndromes;   Progressive Nonfluent Aphasia;   Progressive Nonfluent Aphasias
 primary_id: MESH:D057178;   RDO:0007786
For additional species annotation, visit the Alliance of Genome Resources.


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Primary Progressive Nonfluent 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 chr 5:28,880,210...28,929,964
Ensembl chr 5:28,828,568...28,929,964
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13599
    Diseases of the Aged 1027
      dementia 666
        Primary Progressive Aphasia 3
          Primary Progressive Nonfluent Aphasia 1
Path 2
Term Annotations click to browse term
  disease 13599
    disease of anatomical entity 13257
      nervous system disease 11025
        central nervous system disease 9647
          brain disease 9055
            disease of mental health 6634
              developmental disorder of mental health 4209
                specific developmental disorder 3496
                  communication disorder 263
                    language disorder 146
                      speech disorder 69
                        aphasia 5
                          Primary Progressive Aphasia 3
                            Primary Progressive Nonfluent Aphasia 1
paths to the root