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Repository for lectin-assisted multimodality data
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MIRAGE
obsolete idiopathic generalized epilepsy 10
Summary
- Definition
- An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33.
External Links
- Disease Ontology
- DOID:0111292
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O14764 | Gamma-aminobutyric acid receptor subunit delta |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0002384 | Focal impaired awareness seizure |
| HP:0001252 | Hypotonia |
| HP:0007010 | Poor fine motor coordination |
| HP:0002197 | Generalized-onset seizure |
| HP:0000739 | Anxiety |
| HP:0003066 | Limited knee extension |
| HP:0002123 | Generalized myoclonic seizure |
| HP:0007359 | Focal-onset seizure |
| HP:0001763 | Pes planus |
