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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 1
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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 chr10:90,239,770...90,275,156
Ensembl chr10:93,750,177...93,784,890 		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 chr10:90,312,647...90,336,115
Ensembl chr10:93,823,004...93,860,262 		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 chr16:8,682,169...9,105,581
Ensembl chr16:9,919,143...10,336,167 		JBrowse link
G LGI1 leucine rich glioma inactivated 1 ISO 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
ClinVar		 PMID:9536098 PMID:11810107 PMID:11978770 PMID:12205652 PMID:12601709 More... NCBI chr10:90,506,131...90,546,582
Ensembl chr10:94,016,703...94,056,820 		JBrowse link
G LOC100991425 protein FRA10AC1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr10:90,416,441...90,451,334
Ensembl chr10:93,935,893...93,959,257 		JBrowse link
G MICAL1 microtubule associated monooxygenase, calponin and LIM domain containing 1 ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:25741868 PMID:28492532 NCBI chr 6:107,247,084...107,269,138
Ensembl chr 6:111,295,548...111,317,214 		JBrowse link
G MYOF myoferlin ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr10:90,050,062...90,225,718
Ensembl chr10:93,561,190...93,735,979 		JBrowse link
G PDE6C phosphodiesterase 6C ISO ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:24206907 PMID:28492532 NCBI chr10:90,361,003...90,414,169
Ensembl chr10:93,871,704...93,924,654 		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 chr10:90,337,879...90,347,530
Ensembl chr10:93,848,166...93,857,887 		JBrowse link
G RELN reelin ISO ClinVar Annotator: match by term: Autosomal dominant epilepsy with auditory features | ClinVar Annotator: match by term: Epilepsy, familial temporal lobe, 1 ClinVar PMID:2564880 PMID:14515139 PMID:14593429 PMID:18414213 PMID:20697953 More... NCBI chr 7:95,464,285...95,984,813
Ensembl chr 7:108,208,344...108,728,037 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        Neurologic Manifestations 9644
          sleep disorder 149
            familial temporal lobe epilepsy 1 10
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            epilepsy 2800
              focal epilepsy 371
                temporal lobe epilepsy 86
                  Familial Temporal Epilepsy 13
                    familial temporal lobe epilepsy 1 10
paths to the root