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ONTOLOGY REPORT - ANNOTATIONS


Term:frontotemporal dementia
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Accession:DOID:9255 term browser browse the term
Definition:The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.
Synonyms:exact_synonym: DDPAC;   Disinhibition Dementia Parkinsonism Amytrophy Complex;   Disinhibition-Dementia-Parkinsonism-Amytrophy Complices;   FLDEM;   FRONTOTEMPORAL LOBAR DEGENERATION WITH TAU INCLUSIONS;   FTD;   FTD-GRN;   FTD-PGRN;   FTDP-17;   FTDP17;   FTLD WITH TAU INCLUSIONS;   FTLD with TDP 43 Pathology;   FTLD-17 GRN;   FTLD-TDP;   Familial Pick Disease;   Familial Pick's Disease;   Familial Pick's Diseases;   Familial Picks Disease;   Frontotemporal Dementia with Parkinsonism;   Frontotemporal Dementia with Parkinsonism 17;   Frontotemporal Dementias;   Frontotemporal Lobe Dementia;   Frontotemporal Lobe Dementia (FLDEM);   Frontotemporal Lobe Dementias;   Frontotemporal Lobe Dementias (FLDEM);   GRN Related Frontotemporal Dementia;   GRN-Related Frontotemporal Dementias;   HDDD1;   HDDD2;   Hereditary Dysphasic Disinhibition Dementia;   MSTD;   Multiple System Tauopathy with Presenile Dementia;   Semantic Dementia;   Semantic Dementias;   WLD;   Wilhelmsen Lynch disease;   Wilhelmsen-Lynch diseases;   Wilhemsen-Lynch disease;   disinhibition dementia parkinsonism amyotrophy complex;   disinhibition-dementia-parkinsonism-amyotrophy complices
 narrow_synonym: PALLIDOPONTONIGRAL DEGENERATION;   PPND PICK COMPLEX
 primary_id: MESH:D057180
 alt_id: OMIM:600274;   RDO:0007787
 xref: GARD:8436
For additional species annotation, visit the Alliance of Genome Resources.


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frontotemporal dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Bace2 beta-secretase 2 JBrowse link 11 37,798,397 37,880,624 RGD:13782172
G Chmp2b charged multivesicular body protein 2B JBrowse link 11 2,666,405 2,692,213 RGD:5688398
RGD:8554872
RGD:11554173
RGD:5688721
RGD:5688716
G Grn granulin precursor JBrowse link 10 90,377,103 90,383,207 RGD:5509588
RGD:8554872
RGD:11554173
RGD:5509612
RGD:5509609
RGD:5509602
RGD:5509589
G Lrrk2 leucine-rich repeat kinase 2 JBrowse link 7 132,857,311 133,018,549 RGD:5508418
RGD:8554872
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:1302531
RGD:8554872
RGD:11554173
RGD:10412702
RGD:10412699
RGD:8158108
RGD:7240710
G Marchf4 membrane associated ring-CH-type finger 4 JBrowse link 9 79,781,752 79,898,726 RGD:8554872
G Masp2 mannan-binding lectin serine peptidase 2 JBrowse link 5 165,415,105 165,429,857 RGD:8554872
G Mef2c myocyte enhancer factor 2C JBrowse link 2 11,658,534 11,822,788 RGD:8554872
G Pou1f1 POU class 1 homeobox 1 JBrowse link 11 2,645,659 2,662,581 RGD:8554872
G Prkn parkin RBR E3 ubiquitin protein ligase JBrowse link 1 48,880,015 50,069,998 RGD:10412726
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:7240710
RGD:8554872
RGD:11554173
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:8554872
RGD:13592920
G Trem2 triggering receptor expressed on myeloid cells 2 JBrowse link 9 14,611,541 14,618,076 RGD:13592920
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ubqln2 ubiquilin 2 JBrowse link X 18,723,313 18,726,732 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tuba4a tubulin, alpha 4A JBrowse link 9 82,415,599 82,419,918 RGD:7240710
RGD:8554872
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Fus FUS RNA binding protein JBrowse link 1 199,412,805 199,426,705 RGD:7240710
RGD:8554872
RGD:9685712
chromosome 3-linked frontotemporal dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chmp2b charged multivesicular body protein 2B JBrowse link 11 2,666,405 2,692,213 RGD:8554872
RGD:7240710
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1359108 similar to RIKEN cDNA 3110043O21 JBrowse link 5 50,666,444 50,691,523 RGD:8554872
FTDALS1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G RGD1359108 similar to RIKEN cDNA 3110043O21 JBrowse link 5 50,666,444 50,691,523 RGD:7240710
RGD:8554872
RGD:11554173
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:8554872
FTDALS2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 JBrowse link 20 13,665,046 13,666,845 RGD:7240710
RGD:8554872
FTDALS3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sqstm1 sequestosome 1 JBrowse link 10 35,704,728 35,716,316 RGD:7240710
RGD:8554872
FTDALS4 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tbk1 TANK-binding kinase 1 JBrowse link 7 63,655,247 63,687,978 RGD:8554872
RGD:7240710
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
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:7240710
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:8554872
RGD:7240710
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:7240710
RGD:8554872
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Egf epidermal growth factor JBrowse link 2 68,820,616 68,895,537 RGD:10059681
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 JBrowse link 7 144,865,302 144,871,592 RGD:11554173
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 JBrowse link 4 81,237,496 81,241,281 RGD:10395280
RGD:11554173
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:10059681
G Vcp valosin-containing protein JBrowse link 5 58,426,548 58,445,953 RGD:11554173
RGD:8554872
Pick's disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Atf2 activating transcription factor 2 JBrowse link 3 60,721,137 60,795,951 RGD:10047401
G Creb1 cAMP responsive element binding protein 1 JBrowse link 9 71,229,753 71,298,994 RGD:10047401
RGD:10047402
G Fos Fos proto-oncogene, AP-1 transcription factor subunit JBrowse link 6 109,300,433 109,303,299 RGD:10047402
G Hnmt histamine N-methyltransferase JBrowse link 3 905,111 937,038 RGD:5509779
G Map2k6 mitogen-activated protein kinase kinase 6 JBrowse link 10 98,707,160 98,823,054 RGD:7495833
G Mapt microtubule-associated protein tau JBrowse link 10 92,289,002 92,386,517 RGD:7240710
RGD:8554872
RGD:11554173
G Psen1 presenilin 1 JBrowse link 6 107,169,514 107,221,000 RGD:7240710
RGD:8554872
RGD:11554173
G Snca synuclein alpha JBrowse link 4 90,782,412 90,883,236 RGD:6480200
G Sncb synuclein, beta JBrowse link 17 10,384,472 10,392,776 RGD:6480200
G Tardbp TAR DNA binding protein JBrowse link 5 165,432,089 165,442,232 RGD:5687194

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Diseases of the Aged 1172
      dementia 619
        Frontotemporal Lobar Degeneration 38
          frontotemporal dementia 33
            Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis + 4
            GRN-related frontotemporal lobar degeneration with TDP43 inclusions 2
            Pallidopontonigral Degeneration 0
            Pick's disease 10
            amyotrophic lateral sclerosis type 14 1
            amyotrophic lateral sclerosis type 15 1
            amyotrophic lateral sclerosis type 22 1
            amyotrophic lateral sclerosis type 6 1
            chromosome 3-linked frontotemporal dementia 1
            inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        central nervous system disease 8267
          brain disease 7613
            disease of mental health 5552
              cognitive disorder 1846
                dementia 619
                  Frontotemporal Lobar Degeneration 38
                    frontotemporal dementia 33
                      Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis + 4
                      GRN-related frontotemporal lobar degeneration with TDP43 inclusions 2
                      Pallidopontonigral Degeneration 0
                      Pick's disease 10
                      amyotrophic lateral sclerosis type 14 1
                      amyotrophic lateral sclerosis type 15 1
                      amyotrophic lateral sclerosis type 22 1
                      amyotrophic lateral sclerosis type 6 1
                      chromosome 3-linked frontotemporal dementia 1
                      inclusion body myopathy with Paget disease of bone and frontotemporal dementia + 5
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.