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ADGRV1
No data
Diseases
Generalized Epilepsy With Febrile Seizures Plus
generalized epilepsy with febrile seizures plus
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Generalized Epilepsy With Febrile Seizures Plus
- Standard Disease Name
- generalized epilepsy with febrile seizures plus
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C565808
- OMIM ID
- No data
- UMLS ID
- C3502809
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A rare, genetically heterogeneous disorder caused by mutations in the SCN1A, GABRG2, GABRD, SCN9A, or STX1B genes. It is characterized by early childhood onset febrile seizures, generalized tonic-clonic seizures, absence seizures, myoclonic seizures, and atonic seizures