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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:idiopathic generalized epilepsy 13
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Accession:DOID:0111314 term browser browse the term
Status:
This term is obsolete. We suggest searching for the text of the ontology term or for a keyword rather than searching for the ontology ID. For more information, please contact us.
Definition:An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the GABRA1 on chromosome 5q34. (DO)
Synonyms:exact_synonym: EIG13
 narrow_synonym: ECA4;   EJM5;   EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 4;   EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5
 related_synonym: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13
 replaced_by: DOID:9009305


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