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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 12
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Accession:DOID:9007852 term browser browse the term
Definition:A disease characterized by variable types of seizures, most often febrile seizures, sometimes combined with additional nonfebrile seizures, including focal or generalized seizures. Caused by heterozygous mutation in the SLC32A1 gene on chromosome 20q11.
Synonyms:exact_synonym: GEFS+, type 12;   GEFS+12;   GEFSP12
 primary_id: OMIM:620755


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Generalized Epilepsy with Febrile Seizures Plus, Type 12 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc32a1 solute carrier family 32 (GABA vesicular transporter), member 1 ISO ClinVar Annotator: match by term: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 OMIM
ClinVar		 PMID:28842445 PMID:34038384 NCBI chr 2:158,449,158...158,457,667
Ensembl chr 2:158,452,687...158,457,668 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            epilepsy 2808
              Febrile Seizures 55
                generalized epilepsy with febrile seizures plus 26
                  Generalized Epilepsy with Febrile Seizures Plus, Type 12 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        central nervous system disease 12085
          brain disease 11342
            epilepsy 2808
              Generalized Epilepsy 383
                idiopathic generalized epilepsy 252
                  generalized epilepsy with febrile seizures plus 26
                    Generalized Epilepsy with Febrile Seizures Plus, Type 12 1
paths to the root