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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 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15437
    syndrome 10449
      infancy electroclinical syndrome 119
        benign familial infantile epilepsy 69
          autosomal dominant nocturnal frontal lobe epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 15437
    disease of anatomical entity 15106
      nervous system disease 13260
        central nervous system disease 11851
          brain disease 11123
            disease of mental health 8037
              sleep disorder 149
                Parasomnias 11
                  Sleep Arousal Disorders 1
                    Somnambulism 1
                      autosomal dominant nocturnal frontal lobe epilepsy 4 1
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