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
Disease Ontology
DOID:0111305
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84059 ADGRV1 adhesion G protein-coupled receptor V1
The Human Phenotype Ontology
Displaying all 7 entries
HPO ID HPO Term
HP:0003593 Infantile onset
HP:0002069 Bilateral tonic-clonic seizure
HP:0010819 Atonic seizure
HP:0000006 Autosomal dominant inheritance
HP:0010818 Generalized tonic seizure
HP:0011463 Childhood onset
HP:0002373 Febrile seizure (within the age range of 3 months to 6 years)
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