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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:aphasia
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Accession:DOID:0060046 term browser browse the term
Definition:A cognitive disorder marked by an impaired ability to comprehend or express language in its written or spoken form. This condition is caused by diseases which affect the language areas of the dominant hemisphere. Clinical features are used to classify the various subtypes of this condition. General categories include receptive, expressive, and mixed forms of aphasia.
Synonyms:exact_synonym: Acquired Aphasia;   Ageusic Aphasia;   Alogia;   Alogias;   Anepia;   Anepias;   Auditory Discriminatory Aphasia;   Auditory Discriminatory Aphasias;   Commisural Aphasia;   Commisural Aphasias;   Dejerine Lichtheim Phenomenon;   Dysphasia;   Functional Aphasia;   Functional Aphasias;   Global Aphasia;   Global Aphasias;   Global Dysphasia;   Global Dysphasias;   Graphomotor Aphasia;   Graphomotor Aphasias;   Intellectual Aphasia;   Intellectual Aphasias;   Lichtheim Sign;   Lichtheim's Sign;   Lichtheims Sign;   Logagnosia;   Logagnosias;   Logamnesia;   Logamnesias;   Logasthenia;   Logasthenias;   Mixed Aphasia;   Mixed Aphasias;   Post-Ictal Aphasia;   Post-Ictal Aphasias;   Post-Traumatic Aphasia;   Post-Traumatic Aphasias;   Progressive Aphasia;   Progressive Aphasias;   Semantic Aphasia;   Semantic Aphasias;   Syntactical Aphasia;   ageusic aphasias;   syntactical aphasias
 primary_id: MESH:D001037
For additional species annotation, visit the Alliance of Genome Resources.


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aphasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G L1cam L1 cell adhesion molecule ISO CTD Direct Evidence: marker/mechanism CTD PMID:7920660 NCBI chr  X:156,901,244...156,928,064
Ensembl chr  X:156,909,913...156,928,057
JBrowse link
G Plat plasminogen activator, tissue type ISO CTD Direct Evidence: therapeutic CTD PMID:12690208 NCBI chr16:74,098,263...74,122,897
Ensembl chr16:74,098,260...74,122,889
JBrowse link
Primary Progressive Aphasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grn granulin precursor ISO 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 chr10:90,377,103...90,383,207
Ensembl chr10:90,376,933...90,383,205
JBrowse link
G Prnp prion protein ISO 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 chr 3:124,515,917...124,531,320
Ensembl chr 3:124,515,978...124,531,316
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 ISO ClinVar Annotator: match by term: Primary progressive non fluent aphasia ClinVar NCBI chr 7:63,655,247...63,687,978
Ensembl chr 7:63,655,247...63,687,978
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17126
    Developmental Disease 10894
      Neurodevelopmental Disorders 5663
        communication disorder 285
          language disorder 144
            aphasia 5
              Aphasia, Broca 0
              Aphasia, Conduction 0
              Familial Developmental Dysphasia 0
              Primary Progressive Aphasia + 3
              Wernicke Aphasia 0
              nominal aphasia 0
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              developmental disorder of mental health 4361
                specific developmental disorder 3621
                  communication disorder 285
                    language disorder 144
                      speech disorder 68
                        aphasia 5
                          Aphasia, Broca 0
                          Aphasia, Conduction 0
                          Familial Developmental Dysphasia 0
                          Primary Progressive Aphasia + 3
                          Wernicke Aphasia 0
                          nominal aphasia 0
paths to the root