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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 7
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Accession:DOID:0060751 term browser browse the term
Definition:A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has_material_basis_in heterozygous mutation in the RELN gene on chromosome 7q22. (DO)
Synonyms:exact_synonym: ETL7
 primary_id: OMIM:616436
 xref: ORDO:101046
For additional species annotation, visit the Alliance of Genome Resources.



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familial temporal lobe epilepsy 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Reln reelin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 7 ClinVar
OMIM
PMID:25741868 PMID:26046367 PMID:26467025 PMID:28492532 PMID:29358611 More... NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    Developmental Disease 10990
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9530
        genetic disease 9033
          Familial Temporal Epilepsy 267
            familial temporal lobe epilepsy 7 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      nervous system disease 12154
        central nervous system disease 10420
          brain disease 9782
            epilepsy 2166
              focal epilepsy 415
                temporal lobe epilepsy 341
                  Familial Temporal Epilepsy 267
                    familial temporal lobe epilepsy 7 1
paths to the root