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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
 primary_id: MESH:C563679
 alt_id: OMIM:610353


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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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 4 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 4		 OMIM
CTD
ClinVar		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16109
    syndrome 10388
      infancy electroclinical syndrome 112
        benign familial infantile epilepsy 61
          autosomal dominant nocturnal frontal lobe epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 16109
    disease of anatomical entity 15665
      nervous system disease 13531
        central nervous system disease 12117
          brain disease 11377
            disease of mental health 8213
              sleep disorder 152
                Parasomnias 10
                  Sleep Arousal Disorders 1
                    Somnambulism 1
                      autosomal dominant nocturnal frontal lobe epilepsy 4 1
paths to the root