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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:9008293 term browser browse the term
Definition:A progressive form of dementia characterized by the global loss of language abilities and initial preservation of other cognitive functions. Fluent and nonfluent subtypes have been described. Eventually a pattern of global cognitive dysfunction, similar to ALZHEIMER DISEASE, emerges. Pathologically, there are no Alzheimer or PICK DISEASE like changes, however, spongiform changes of cortical layers II and III are present in the TEMPORAL LOBE and FRONTAL LOBE. (From Brain 1998 Jan;121(Pt 1):115-26)
Synonyms:exact_synonym: Aphasia, Primary Progressive, Susceptibility To;   Mesulam Syndrome;   Mesulam's Syndrome;   Primary Progressive Aphasias
 primary_id: MESH:D018888;   RDO:0007243
For additional species annotation, visit the Alliance of Genome Resources.


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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 IAGP ClinVar Annotator: match by term: Primary progressive aphasia ClinVar PMID:12794388 PMID:16862116 PMID:16950801 PMID:17210807 PMID:17522386 PMID:17698705 PMID:18392865 PMID:18551524 PMID:20087814 PMID:20142524 PMID:20522652 PMID:21454553 PMID:21482928 PMID:22608501 PMID:25741868 PMID:26467025 PMID:26791154 PMID:28492532 NCBI chr17:44,345,302...44,353,106
Ensembl chr17:44,345,246...44,353,106
JBrowse link
G PRNP prion protein IAGP ClinVar Annotator: match by term: Aphasia, primary progressive, susceptibility to ClinVar PMID:1353341 PMID:1677164 PMID:1682813 PMID:1684089 PMID:1971924 PMID:2378641 PMID:2783132 PMID:7908444 PMID:8137139 PMID:9643750 PMID:9748018 PMID:9751723 PMID:9789072 PMID:10437852 PMID:10581230 PMID:10953203 PMID:11488277 PMID:11506406 PMID:11506411 PMID:11749972 PMID:11840201 PMID:12601712 PMID:12867116 PMID:12891686 PMID:14520676 PMID:14562104 PMID:14970845 PMID:15277640 PMID:15539564 PMID:15987701 PMID:16217673 PMID:16315279 PMID:16391566 PMID:16565881 PMID:16969862 PMID:18955686 PMID:19923577 PMID:25741868 NCBI chr20:4,686,456...4,701,588
Ensembl chr20:4,686,350...4,701,590
JBrowse link
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 IAGP ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr12:64,452,105...64,502,114
Ensembl chr12:64,452,090...64,502,114
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 20160
    Diseases of the Aged 1169
      dementia 726
        Primary Progressive Aphasia 3
          Primary Progressive Nonfluent Aphasia 1
Path 2
Term Annotations click to browse term
  disease 20160
    disease of anatomical entity 18757
      nervous system disease 14794
        central nervous system disease 12970
          brain disease 12188
            disease of mental health 9317
              developmental disorder of mental health 6119
                specific developmental disorder 4333
                  communication disorder 293
                    language disorder 163
                      speech disorder 78
                        aphasia 5
                          Primary Progressive Aphasia 3
                            Primary Progressive Nonfluent Aphasia 1
paths to the root