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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 2
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Accession:DOID:0060755 term browser browse the term
Definition:A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex or partial seizures and childhood febrile seizures that has_material_basis_in variation in the chromosome region 12q22-q23.3. (DO)
Synonyms:exact_synonym: ETL2;   FTLE
 primary_id: OMIM:608096
 alt_id: RDO:0009163
 xref: ORDO:98819


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familial temporal lobe epilepsy 2 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: Familial temporal lobe epilepsy 2 ClinVar PMID:25741868 NCBI chr 5:8,526,708...8,888,492
Ensembl chr 5:8,526,741...8,888,485 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14400
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13417
        genetic disease 13036
          Familial Temporal Epilepsy 13
            familial temporal lobe epilepsy 2 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            epilepsy 2809
              focal epilepsy 372
                temporal lobe epilepsy 91
                  Familial Temporal Epilepsy 13
                    familial temporal lobe epilepsy 2 1
paths to the root