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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
 primary_id: OMIM:614417
 alt_id: RDO:9000289
For additional species annotation, visit the Alliance of Genome Resources.


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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: Epilepsy, familial temporal lobe, 5 OMIM
ClinVar
PMID:21922598, PMID:23105115, PMID:25741868, PMID:26467025, PMID:26648591, PMID:28492532, PMID:28761347, PMID:29358611, PMID:32581362 NCBI chr 5:8,215,443...8,574,655
Ensembl chr 5:8,459,660...8,574,655
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          Familial Temporal Epilepsy 14
            familial temporal lobe epilepsy 5 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            epilepsy 1528
              focal epilepsy 156
                temporal lobe epilepsy 86
                  Familial Temporal Epilepsy 14
                    familial temporal lobe epilepsy 5 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.