Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

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 1
go back to main search page
Accession:DOID:0060748 term browser browse the term
Definition:A temporal lobe epilepsy characterized by autosomal dominant inheritance of partial seizures originating from the temporal lobe that are often accompanied by auditory symptoms and that has_material_basis_in heterozygous mutation in the LGI1 gene on chromosome 10q24. (DO)
Synonyms:exact_synonym: ADLTE;   ADPEAF;   AUTOSOMAL DOMINANT EPILEPSY WITH AUDITORY FEATURES;   Autosomal Dominant Lateral Temporal Lobe Epilepsy;   Autosomal dominant partial epilepsy with auditory features;   ETL1;   LGI1-RELATED CONDITION;   partial epilepsy with auditory features
 primary_id: MESH:C537297
 alt_id: OMIM:600512;   RDO:0003114;   RDO:0008760
 xref: NCI:C141441


show annotations for term's descendants           Sort by:
familial temporal lobe epilepsy 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cep55 centrosomal protein 55 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,832,823...235,848,401
Ensembl chr 1:235,832,878...235,848,394 		JBrowse link
G Ffar4 free fatty acid receptor 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,873,576...235,891,597
Ensembl chr 1:235,873,576...235,891,597 		JBrowse link
G Fra10ac1 FRA10A associated CGG repeat 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,969,071...236,001,074
Ensembl chr 1:235,969,112...236,001,210 		JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 NCBI chr10:5,629,683...6,053,262
Ensembl chr10:5,631,369...6,044,637 		JBrowse link
G Lgi1 leucine-rich, glioma inactivated 1 ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:600512
ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 | ClinVar Annotator: match by term: LGI1-related condition		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 More... NCBI chr 1:236,043,269...236,084,617
Ensembl chr 1:236,042,954...236,084,616 		JBrowse link
G Mical1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr20:44,974,137...44,986,089
Ensembl chr20:44,974,138...44,986,089 		JBrowse link
G Myof myoferlin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,673,666...235,822,413
Ensembl chr 1:235,673,666...235,822,334 		JBrowse link
G Pde6c phosphodiesterase 6C ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,909,583...235,965,435
Ensembl chr 1:235,909,775...235,965,315 		JBrowse link
G Rbp4 retinol binding protein 4 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr 1:235,893,917...235,901,315
Ensembl chr 1:235,893,917...235,901,399 		JBrowse link
G Reln reelin ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1		 CTD
ClinVar		 PMID:2564880 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 More... NCBI chr 4:12,736,177...13,162,956
Ensembl chr 4:12,736,130...13,162,211 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        Neurologic Manifestations 10055
          sleep disorder 153
            familial temporal lobe epilepsy 1 10
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14091
        central nervous system disease 12432
          brain disease 11669
            epilepsy 2811
              focal epilepsy 372
                temporal lobe epilepsy 91
                  Familial Temporal Epilepsy 13
                    familial temporal lobe epilepsy 1 10
paths to the root