Developmental And Epileptic Encephalopathy 93
Disease ID: disease_node_16272
Connections displayed (default: 10).
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| Dbxref | MIM:618012 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE93, IECEE3, infantile or early childhood epileptic encephalopathy 3 |
| Doid Label | developmental and epileptic encephalopathy 93 |
| Doid Description | A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and impaired intellectual development that has_material_basis_in heterozygous mutation in the ATP6V1A gene on chromosome 3q13.31. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16272 |
| Doid Id | DOID_0112275 |
| Label | Developmental And Epileptic Encephalopathy 93 |
- 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)