Developmental And Epileptic Encephalopathy 13
Disease ID: disease_node_16218
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:614558 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE13, early infantile epileptic encephalopathy 13 |
| Doid Label | developmental and epileptic encephalopathy 13 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset of intractable seizures in the first year of life with impaired development or developmental regression after seizure onset that has_material_basis_in heterozygous mutation in the SCN8A gene on chromosome 12q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16218 |
| Doid Id | DOID_0080445 |
| Label | Developmental And Epileptic Encephalopathy 13 |
- 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)