Developmental And Epileptic Encephalopathy 7
Disease ID: disease_node_16202
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| Dbxref | MIM:613720, ORDO:439218 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | KCNQ2-related epileptic encephalopathy, KCNQ2-related neonatal epileptic encephalopathy, early infantile epileptic encephalopathy 7 |
| Doid Label | developmental and epileptic encephalopathy 7 |
| Doid Description | A developmental and epileptic encephalopathy characterized by infantile onset of refractory seizures, delayed neurological development, and persistent neurologic abnormalities that has_material_basis_in heterozygous mutation in the KCNQ2 gene on chromosome 20q13. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16202 |
| Doid Id | DOID_0080462 |
| Label | Developmental And Epileptic Encephalopathy 7 |
- 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)