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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:Pick's disease
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Accession:DOID:11870 term browser browse the term
Definition:A rare form of DEMENTIA that is sometimes familial. Clinical features include APHASIA; APRAXIA; CONFUSION; ANOMIA; memory loss; and personality deterioration. This pattern is consistent with the pathologic findings of circumscribed atrophy of the poles of the FRONTAL LOBE and TEMPORAL LOBE. Neuronal loss is maximal in the HIPPOCAMPUS, entorhinal cortex, and AMYGDALA. Some ballooned cortical neurons contain argentophylic (Pick) bodies. (From Brain Pathol 1998 Apr;8(2):339-54; Adams et al., Principles of Neurology, 6th ed, pp1057-9)
Synonyms:exact_synonym: Circumscribed Lobar Atrophy of the Brain;   Dementia with Lobar Atrophy and Neuronal Cytoplasmic Inclusions;   Lobar Atrophies (Brain);   Lobar Atrophy (Brain);   Lobar Atrophy Of Brain;   Lobar Atrophy of the Brain;   Pick Disease;   Pick Disease Of Brain;   Pick Disease of the Brain;   Picks Disease;   Picks disease of brain;   circumscribed lobar brain atrophy;   dementia in Pick's disease
 primary_id: MESH:D020774
 alt_id: OMIM:172700
 xref: EFO:0003096;   GARD:7392;   ICD10CM:G31.01;   ICD9CM:331.11;   NCI:C85008
For additional species annotation, visit the Alliance of Genome Resources.


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Pick's disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Atf2 activating transcription factor 2 ISO RGD PMID:16496165 RGD:10047401 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236 		JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO protein:decreased expression:frontal cortex RGD PMID:16496165 PMID:17548164 RGD:10047401, RGD:10047402 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO protein:decreased expression:frontal cortex RGD PMID:17548164 RGD:10047402 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:11880199 RGD:5509779 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Map2k6 mitogen-activated protein kinase kinase 6 ISO RGD PMID:12392790 RGD:7495833 NCBI chr10:95,373,304...95,490,406
Ensembl chr10:95,373,204...95,488,293 		JBrowse link
G Mapt microtubule-associated protein tau ISO ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9641683 PMID:10604746 PMID:11032905 PMID:11117542 PMID:11601501 More... NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: Pick Disease of the Brain | ClinVar Annotator: match by term: Pick disease
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9450754 PMID:11389157 PMID:15122701 PMID:15622541 PMID:20301414 More... NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650 		JBrowse link
G Snca synuclein alpha ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr 4:89,696,420...89,797,240
Ensembl chr 4:89,696,420...89,796,262 		JBrowse link
G Sncb synuclein, beta ISO protein:increased expression:dentate gyrus RGD PMID:12410393 RGD:6480200 NCBI chr17:9,846,802...9,855,013
Ensembl chr17:9,846,802...9,855,012 		JBrowse link
G Tardbp TAR DNA binding protein ISO RGD PMID:18091558 RGD:5687194 NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20983
    Diseases of the Aged 1455
      dementia 867
        Frontotemporal Lobar Degeneration 171
          frontotemporal dementia 168
            Pick's disease 10
Path 2
Term Annotations click to browse term
  disease 20983
    disease of anatomical entity 18174
      nervous system disease 14106
        central nervous system disease 12331
          brain disease 11574
            disease of mental health 8171
              cognitive disorder 2258
                dementia 867
                  Frontotemporal Lobar Degeneration 171
                    frontotemporal dementia 168
                      Pick's disease 10
paths to the root