Developmental And Epileptic Encephalopathy 25
Disease ID: disease_node_16164
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| Dbxref | GARD:12901, MIM:615905 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE25, developmental and epileptic encephalopathy 25, with amelogenesis imperfecta, early infantile epileptic encephalopathy 25 |
| Disease Has Feature | DOID_1059 |
| Doid Label | developmental and epileptic encephalopathy 25 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16164 |
| Doid Id | DOID_0080453 |
| Label | Developmental And Epileptic Encephalopathy 25 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)