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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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          Familial Temporal Epilepsy 6
            familial temporal lobe epilepsy 5 1
Path 2
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      nervous system disease 10219
        central nervous system disease 8096
          brain disease 7565
            epilepsy 1080
              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.