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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:Generalized Epilepsy with Febrile Seizures Plus, Type 5
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Accession:DOID:9006930 term browser browse the term
Synonyms:exact_synonym: GEFS, Type 5;   GEFSP5
 narrow_synonym: GEFS5
 related_synonym: GEFS+, TYPE 5, SUSCEPTIBILITY TO;   GEFS+5, SUSCEPTIBILITY TO;   GEFSP5, SUSCEPTIBILITY TO
 primary_id: MESH:C565812


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Generalized Epilepsy with Febrile Seizures Plus, Type 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gabrd gamma-aminobutyric acid type A receptor subunit delta ISO ClinVar Annotator: match by term: Generalized epilepsy with febrile seizures plus type 5 ClinVar PMID:15115768 PMID:16023832 PMID:16256272 PMID:16452673 PMID:17559416 More... NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            epilepsy 2816
              Febrile Seizures 61
                generalized epilepsy with febrile seizures plus 28
                  Generalized Epilepsy with Febrile Seizures Plus, Type 5 1
Path 2
Term Annotations click to browse term
  disease 18970
    disease of anatomical entity 18265
      nervous system disease 14120
        central nervous system disease 12440
          brain disease 11678
            epilepsy 2816
              Generalized Epilepsy 393
                idiopathic generalized epilepsy 250
                  generalized epilepsy with febrile seizures plus 28
                    Generalized Epilepsy with Febrile Seizures Plus, Type 5 1
paths to the root