idiopathic generalized epilepsy 13 - Ontology Report

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	go back to main search page
Accession:	DOID:0111314	browse the term
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
	primary_id:	OMIM:611136

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Genes (1)

idiopathic generalized epilepsy 13

Symbol

Object Name

Evidence

Notes

Source

PubMed Reference(s)

RGD Reference(s)

Position

Gabra1

gamma-aminobutyric acid type A receptor subunit alpha 1

ISO

ClinVar Annotator: match by term: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 | ClinVar Annotator: match by term: EPILEPSY, JUVENILE MYOCLONIC, SUSCEPTIBILITY TO, 5 | ClinVar Annotator: match by term: Epilepsy, idiopathic generalized, susceptibility to, 13

ClinVar
OMIM

PMID:11992121 PMID:16530959 PMID:16569738 PMID:18414213 PMID:18534981 More...

NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864

Term paths to the root

Path 1
Term	Annotations
disease	21128
syndrome	10832
electroclinical syndrome	1351
absence epilepsy	247
adolescence-adult electroclinical syndrome	136
juvenile myoclonic epilepsy	12
idiopathic generalized epilepsy 13	1
Path 2
Term	Annotations
disease	21128
disease of anatomical entity	18212
nervous system disease	14060
central nervous system disease	12399
brain disease	11634
epilepsy	2802
electroclinical syndrome	1351
absence epilepsy	247
adolescence-adult electroclinical syndrome	136
juvenile myoclonic epilepsy	12
idiopathic generalized epilepsy 13	1

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RGD DISEASE ONTOLOGY - ANNOTATIONS