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ONTOLOGY REPORT - ANNOTATIONS


Term:familial temporal lobe epilepsy 5
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Accession:DOID:0060752 term browser browse the term
Definition:A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13. (DO)
Synonyms:exact_synonym: ETL5
 primary_id: OMIM:614417
 alt_id: RDO:9000289
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familial temporal lobe epilepsy 5 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cpa6 carboxypeptidase A6 JBrowse link 5 8,215,443 8,574,655 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15599
    Developmental Diseases 8726
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7507
        genetic disease 6997
          Familial Temporal Epilepsy 6
            familial temporal lobe epilepsy 5 1
Path 2
Term Annotations click to browse term
  disease 15599
    disease of anatomical entity 0
      nervous system disease 10203
        central nervous system disease 8080
          brain disease 7549
            epilepsy 1077
              focal epilepsy 128
                temporal lobe epilepsy 78
                  Familial Temporal Epilepsy 6
                    familial temporal lobe epilepsy 5 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.