Dravet Syndrome
Disease ID: disease_node_16267
Connections displayed (default: 10).
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| Dbxref | GARD:10430, MIM:607208, ORDO:33069 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE6, DEE6A, developmental and epileptic encephalopathy 6, developmental and epileptic encephalopathy 6A, early infantile epileptic encephalopathy 6, severe myoclonic epilepsy of infancy |
| Doid Label | Dravet syndrome |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16267 |
| Doid Id | DOID_0080422 |
| Label | Dravet Syndrome |
| Doid Alternate Ids | DOID_0060171 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)