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ONTOLOGY REPORT - ANNOTATIONS


Term:GRN-related frontotemporal lobar degeneration with TDP43 inclusions
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Accession:DOID:0060672 term browser browse the term
Definition:A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: FRONTOTEMPORAL DEMENTIA WITH TDP43 INCLUSIONS, GRN-RELATED;   FTDU;   FTLD-TDP, GRN-related;   FTLDU;   Frontotemporal Lobar Degeneration With Ubiquitin Positive Inclusions;   Ubiquitin-Positive Frontotemporal Dementia
 narrow_synonym: HDDD aphasia, primary progressive;   PPA;   hereditary dysphasic disinhibition dementia
 primary_id: OMIM:607485
 alt_id: RDO:0009112
 xref: ORDO:282
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GRN-related frontotemporal lobar degeneration with TDP43 inclusions term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:5509604
RGD:8554872
RGD:7240710
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:13592920

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Path 1
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  disease 0
    Diseases of the Aged 1171
      dementia 618
        Frontotemporal Lobar Degeneration 38
          GRN-related frontotemporal lobar degeneration with TDP43 inclusions 2
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            disease of mental health 5517
              cognitive disorder 1843
                dementia 618
                  Frontotemporal Lobar Degeneration 38
                    frontotemporal dementia 33
                      GRN-related frontotemporal lobar degeneration with TDP43 inclusions 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.