Developmental And Epileptic Encephalopathy 71
Disease ID: disease_node_16181
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| Dbxref | MIM:618328 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE71, early infantile epileptic encephalopathy 71, glutaminase deficiency with neonatal epileptic encephalopathy |
| Doid Label | developmental and epileptic encephalopathy 71 |
| Doid Description | A developmental and epileptic encephalopathy characterized by early neonatal refractory seizures, respiratory failure, structural brain abnormalities and cerebral edema, with death within weeks after birth that has_material_basis_in homozygous or compound heterozygous mutation in GLS on chromosome 2q32.2. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16181 |
| Doid Id | DOID_0112207 |
| Label | Developmental And Epileptic Encephalopathy 71 |
- 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)