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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 chrNW_004936675:327,501...334,493
Ensembl chrNW_004936675:327,501...334,581 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14641
    syndrome 10018
      infancy electroclinical syndrome 116
        benign familial infantile epilepsy 66
          autosomal dominant nocturnal frontal lobe epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 14641
    disease of anatomical entity 14330
      nervous system disease 12614
        central nervous system disease 11282
          brain disease 10591
            disease of mental health 7615
              sleep disorder 147
                Parasomnias 11
                  Sleep Arousal Disorders 1
                    Somnambulism 1
                      autosomal dominant nocturnal frontal lobe epilepsy 4 1
paths to the root