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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 3
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Accession:DOID:0060684 term browser browse the term
Definition:An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. (DO)
Synonyms:exact_synonym: ENFL3;   EPILEPSY, NOCTURNAL FRONTAL LOBE, TYPE 3;   nocturnal frontal lobe epilepsy 3
 primary_id: MESH:C565334;   OMIM:605375
 alt_id: RDO:0014001


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autosomal dominant nocturnal frontal lobe epilepsy 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNB2 cholinergic receptor nicotinic beta 2 subunit ISO ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3 OMIM
ClinVar		 PMID:9536098 PMID:11062464 PMID:11094099 PMID:11104662 PMID:11906688 More... NCBI chr 1:129,922,740...129,931,582
Ensembl chr 1:133,535,023...133,547,361 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17996
    Developmental Disease 17885
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17802
        genetic disease 17786
          monogenic disease 10255
            autosomal genetic disease 9441
              autosomal dominant disease 6185
                autosomal dominant nocturnal frontal lobe epilepsy 108
                  autosomal dominant nocturnal frontal lobe epilepsy 3 1
Path 2
Term Annotations click to browse term
  disease 17996
    disease of anatomical entity 15260
      nervous system disease 13293
        central nervous system disease 11923
          brain disease 11204
            epilepsy 2800
              focal epilepsy 371
                frontal lobe epilepsy 109
                  autosomal dominant nocturnal frontal lobe epilepsy 108
                    autosomal dominant nocturnal frontal lobe epilepsy 3 1
paths to the root