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familial febrile seizures 4
Summary
- Synonym
-
- FEB4
- familial febrile convulsions 4
- Definition
- A familial febrile seizures that has_material_basis_in heterozygous mutation the ADGRV1 gene on chromosome 5q14.3.
- Super Class
- familial febrile seizures
External Links
- Disease Ontology
- DOID:0111305
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8WXG9 | Adhesion G-protein coupled receptor V1 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002069 | Bilateral tonic-clonic seizure |
| HP:0003593 | Infantile onset |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) |
| HP:0010819 | Atonic seizure |
| HP:0010818 | Generalized tonic seizure |
| HP:0011463 | Childhood onset |
