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Standards Ontologies Notations
idiopathic generalized epilepsy 10

Summary
Synonym
  • EIG10
Definition
An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33.
Super Class
idiopathic generalized epilepsy
Disease Ontology
DOID:0111292
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
2563 GABRD gamma-aminobutyric acid type A receptor subunit delta
Displaying 1 entry
Gene ID Gene Symbol Description Source
14403 Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta
Displaying 1 entry
Gene ID Gene Symbol Description Source
29689 Gabrd gamma-aminobutyric acid type A receptor subunit delta
Displaying 1 entry
Gene ID Gene Symbol Description Source
32554 Lcch3 Ligand-gated chloride channel homolog 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
176691 gab-1 Gamma-aminobutyric acid receptor subunit beta
The Human Phenotype Ontology
Displaying entries 1 - 10 of 28 in total
HPO ID HPO Term
HP:0002384 Focal impaired awareness seizure
HP:0002069 Bilateral tonic-clonic seizure
HP:0010819 Atonic seizure
HP:0001252 Hypotonia
HP:0007010 Poor fine motor coordination
HP:0100694 Tibial torsion
HP:0002197 Generalized-onset seizure
HP:0000739 Anxiety
HP:0002373 Febrile seizure (within the age range of 3 months to 6 years)
HP:0007359 Focal-onset seizure
Displaying 1 entry
Gene ID Gene Symbol Description
84059 ADGRV1 adhesion G protein-coupled receptor V1
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: December 9, 2024