Developmental And Epileptic Encephalopathy 1
Disease ID: disease_node_16197
Connections displayed (default: 10).
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| Dbxref | MIM:308350 |
|---|---|
| Subclassof | DOID_0080012, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE1, X-linked infantile spasm syndrome 1, early infantile epileptic encephalopathy 1 |
| Doid Label | developmental and epileptic encephalopathy 1 |
| Doid Description | A developmental and epileptic encephalopathy characterized by X-linked recessive inheritance of frequent tonic seizures or spasms beginning in infancy that has_material_basis_in mutation in the ARX gene on chromosome Xp21. |
| Has Material Basis In | GENO_0000149 |
| Disease Node Id | disease_node_16197 |
| Doid Id | DOID_0080468 |
| Label | Developmental And Epileptic Encephalopathy 1 |
- Outgoing r'ship
SUBCLASS_OFto/from X-Linked Recessive Disease(ID:disease_node_13254) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)