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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 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 chr15:44,517,862...44,534,144
Ensembl chr15:40,342,317...40,358,601 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19140
    syndrome 11403
      infancy electroclinical syndrome 118
        benign familial infantile epilepsy 68
          autosomal dominant nocturnal frontal lobe epilepsy 4 1
Path 2
Term Annotations click to browse term
  disease 19140
    disease of anatomical entity 18453
      nervous system disease 14363
        central nervous system disease 12640
          brain disease 11858
            disease of mental health 8463
              sleep disorder 156
                Parasomnias 11
                  Sleep Arousal Disorders 1
                    Somnambulism 1
                      autosomal dominant nocturnal frontal lobe epilepsy 4 1
paths to the root