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
Accession: DOID:0060046
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Definition: A language disorder that involves an acquired impairment of any language modality such as producing or comprehending spoken or written language. (DO)
Synonyms: exact_synonym: Acquired Aphasia; Ageusic Aphasia; Alogia; Anepia; Auditory Discriminatory Aphasia; Commisural Aphasia; 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; ageusic aphasias; alogias; anepias; auditory discriminatory aphasias; commisural aphasias; progressive aphasias; semantic aphasia; semantic aphasias; syntactical aphasia; syntactical aphasias
xref: MESH:D001037 ; MONDO:0000598
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L1cam
L1 cell adhesion molecule
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:7920660
NCBI chr X:151,597,270...151,623,776
Ensembl chr X:151,597,277...151,623,857
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Plat
plasminogen activator, tissue type
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12690208
NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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Grn
granulin precursor
ISO
ClinVar Annotator: match by term: Primary progressive aphasia
ClinVar
PMID:6497355 PMID:12794388 PMID:16862116 PMID:16950801 PMID:17202431 PMID:17210807 PMID:17439980 PMID:17522386 PMID:17698705 PMID:18183624 PMID:18245784 PMID:18392865 PMID:18551524 PMID:20087814 PMID:20142524 PMID:20522652 PMID:20947212 PMID:21454553 PMID:21482928 PMID:21891869 PMID:22127750 PMID:22608501 PMID:25741868 PMID:26467025 PMID:26791154 PMID:28492532 PMID:32507413 PMID:33203472 More...
NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
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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 PMID:28492532 More...
NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
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Tbk1
TANK-binding kinase 1
ISO
ClinVar Annotator: match by term: Primary progressive non fluent aphasia
ClinVar
NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
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Mapt
microtubule-associated protein tau
ISO
ClinVar Annotator: match by term: Semantic dementia
ClinVar
PMID:25741868
NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
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