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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 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
 broad_synonym: CPA6-RELATED CONDITION
 primary_id: OMIM:614417
 alt_id: RDO:9000289

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familial temporal lobe epilepsy 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cpa6 carboxypeptidase A6 ISO ClinVar Annotator: match by term: CPA6-related condition | ClinVar Annotator: match by term: Familial temporal lobe epilepsy 5 OMIM
ClinVar		 PMID:9536098 PMID:17576681 PMID:21922598 PMID:23105115 PMID:25741868 More... NCBI chrNW_004955444:11,624,842...11,922,293
Ensembl chrNW_004955444:11,624,806...11,921,509 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16063
    Developmental Disease 15996
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 15949
        genetic disease 15939
          Familial Temporal Epilepsy 13
            familial temporal lobe epilepsy 5 1
Path 2
Term Annotations click to browse term
  disease 16063
    disease of anatomical entity 13820
      nervous system disease 12088
        central nervous system disease 10855
          brain disease 10186
            epilepsy 2595
              focal epilepsy 347
                temporal lobe epilepsy 84
                  Familial Temporal Epilepsy 13
                    familial temporal lobe epilepsy 5 1
paths to the root