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autosomal dominant nocturnal frontal lobe epilepsy 4 - Ontology Report - Rat Genome Database

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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:autosomal dominant nocturnal frontal lobe epilepsy 4
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Accession:DOID:0060685 term browser browse the term
Definition:An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. (DO)
Synonyms:exact_synonym: ENFL4;   familial epilepsy with nocturnal wandering and ictal fear;   nocturnal frontal lobe epilepsy 4;   nocturnal frontal lobe epilepsy type 4
 xref: MESH:C563679;   MIM:610353;   MONDO:0012474

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autosomal dominant nocturnal frontal lobe epilepsy 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chrNW_004624758:22,182,468...22,200,076
Ensembl chrNW_004624758:22,182,951...22,200,063 		JBrowse link
G G CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr 8:25,571,958...25,591,982
Ensembl chr 8:25,571,863...25,591,788 		JBrowse link
G P CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr14:11,193,732...11,204,334
Ensembl chr14:11,195,228...11,207,650 		JBrowse link
G S Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chrNW_004936675:327,501...334,493
Ensembl chrNW_004936675:327,501...334,581 		JBrowse link
G D CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr25:30,117,384...30,137,223
Ensembl chr25:30,117,239...30,135,599 		JBrowse link
G B CHRNA2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr 8:26,729,767...26,749,277
Ensembl chr 8:23,932,846...23,952,377 		JBrowse link
G C Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4 OMIM
ClinVar		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chrNW_004955403:49,970,398...49,989,095
Ensembl chrNW_004955403:49,970,398...49,989,137 		JBrowse link
G R Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr15:44,517,862...44,534,144
Ensembl chr15:40,342,317...40,358,601 		JBrowse link
G M Chrna2 cholinergic receptor nicotinic alpha 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr14:66,370,685...66,390,397
Ensembl chr14:66,372,488...66,390,397 		JBrowse link
G H CHRNA2 cholinergic receptor nicotinic alpha 2 subunit IAGP
EXP		 ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16222669 PMID:16826524 PMID:17576681 PMID:18414213 More... NCBI chr 8:27,459,756...27,479,261
Ensembl chr 8:27,459,756...27,479,883 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      infancy electroclinical syndrome 1206
        benign familial infantile epilepsy 703
          autosomal dominant nocturnal frontal lobe epilepsy 4 10
Path 2
Term Annotations click to browse term
  disease 288179
    disease of anatomical entity 271815
      nervous system disease 190640
        central nervous system disease 157774
          brain disease 148547
            disease of mental health 111500
              sleep disorder 6042
                Parasomnias 627
                  Sleep Arousal Disorders 10
                    Somnambulism 10
                      autosomal dominant nocturnal frontal lobe epilepsy 4 10
paths to the root