Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

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 8
go back to main search page
Accession:DOID:0060754 term browser browse the term
Definition:A temporal lobe epilepsy characterized by autosomal dominant inheritance of complex partial seizures with occasional secondary generalization and that has_material_basis_in heterozygous mutation in the GAL gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: ETL8
 primary_id: OMIM:616461
 alt_id: RDO:9001450
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
familial temporal lobe epilepsy 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 8 ClinVar
OMIM
PMID:25691535, PMID:28492532 NCBI chr 1:218,653,059...218,657,922
Ensembl chr 1:218,652,917...218,657,925
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    Developmental Diseases 9510
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8355
        genetic disease 7860
          Familial Temporal Epilepsy 14
            familial temporal lobe epilepsy 8 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        central nervous system disease 9020
          brain disease 8346
            epilepsy 1528
              focal epilepsy 156
                temporal lobe epilepsy 86
                  Familial Temporal Epilepsy 14
                    familial temporal lobe epilepsy 8 1
paths to the root

NHLBI Logo

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