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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:familial temporal lobe epilepsy 3
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Accession:DOID:0060750 term browser browse the term
Definition:A temporal lobe epilepsy characterized by simple or complex partial seizures often accompanied by intense feelings of deja or altered awareness and that has_material_basis_in variation in the chromosome region 4q13.2-q21.3. (DO)
Synonyms:exact_synonym: EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE;   ETL3;   FMTLE
 related_synonym: MDR1 POLYMORPHISM
 primary_id: MESH:C566903
 alt_id: OMIM:611630;   RDO:0009548;   RDO:0015117
For additional species annotation, visit the Alliance of Genome Resources.


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familial temporal lobe epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abcb1a ATP binding cassette subfamily B member 1A ISO mRNA, protein:increased expression:hippocampus, temporal lobe (human)
ClinVar Annotator: match by term: MDR1 POLYMORPHISM
ClinVar PMID:10716719, PMID:11502320, PMID:12189368, PMID:12686700, PMID:15452305, PMID:15452306, PMID:15805193, PMID:16580900, PMID:16912956, PMID:16912957, PMID:17178268, PMID:17898703, PMID:18334914, PMID:19514130, PMID:20017669, PMID:20707787, PMID:21209234, PMID:21383334, PMID:21902500, PMID:22296372, PMID:22992668, PMID:23632726, PMID:24034787, PMID:24624916, PMID:24703092, PMID:25007187, PMID:25012726, PMID:25303299, PMID:25556837, PMID:25582575, PMID:27399166, PMID:27883323, PMID:28346387, PMID:28379874, PMID:28525903, PMID:29474345, PMID:24590840 RGD:11041150 NCBI chr 4:22,339,829...22,517,642
Ensembl chr 4:22,133,521...22,425,515
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          Familial Temporal Epilepsy 14
            familial temporal lobe epilepsy 3 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            epilepsy 1528
              focal epilepsy 156
                temporal lobe epilepsy 86
                  Familial Temporal Epilepsy 14
                    familial temporal lobe epilepsy 3 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.