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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


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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
RGD		 PMID:10716719 PMID:11502320 PMID:12686700 PMID:15452305 PMID:15452306 More... RGD:11041150 NCBI chr 4:25,357,467...25,529,941
Ensembl chr 4:25,158,362...25,442,709 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18448
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18308
        genetic disease 18252
          Familial Temporal Epilepsy 13
            familial temporal lobe epilepsy 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18212
      nervous system disease 14060
        central nervous system disease 12399
          brain disease 11634
            epilepsy 2802
              focal epilepsy 370
                temporal lobe epilepsy 89
                  Familial Temporal Epilepsy 13
                    familial temporal lobe epilepsy 3 1
paths to the root