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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
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:605375
ClinVar Annotator: match by term: Autosomal dominant nocturnal frontal lobe epilepsy 3 | ClinVar Annotator: match by term: Epilepsy, nocturnal frontal lobe, type 3		 OMIM
CTD
MouseDO
ClinVar		 PMID:9536098 PMID:11062464 PMID:11094099 PMID:11104662 PMID:11906688 More... NCBI chr 2:175,181,402...175,189,619
Ensembl chr 2:175,181,402...175,189,619 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    Developmental Disease 18449
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18309
        genetic disease 18253
          monogenic disease 10363
            autosomal genetic disease 9517
              autosomal dominant disease 6235
                autosomal dominant nocturnal frontal lobe epilepsy 106
                  autosomal dominant nocturnal frontal lobe epilepsy 3 1
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            epilepsy 2802
              focal epilepsy 370
                frontal lobe epilepsy 107
                  autosomal dominant nocturnal frontal lobe epilepsy 106
                    autosomal dominant nocturnal frontal lobe epilepsy 3 1
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