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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 17129
    Developmental Disease 10897
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9431
        genetic disease 8941
          Familial Temporal Epilepsy 267
            familial temporal lobe epilepsy 3 1
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      nervous system disease 12074
        central nervous system disease 10353
          brain disease 9712
            epilepsy 2151
              focal epilepsy 414
                temporal lobe epilepsy 340
                  Familial Temporal Epilepsy 267
                    familial temporal lobe epilepsy 3 1
paths to the root