Developmental And Epileptic Encephalopathy 116
Disease ID: disease_node_16242
Connections displayed (default: 10).
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| Dbxref | MIM:620806 |
|---|---|
| Subclassof | DOID_0050736, DOID_0112202, DOID_9252 |
| Data Source | DOID |
| Synonyms | DEE116 |
| Doid Label | developmental and epileptic encephalopathy 116 |
| Doid Description | A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_16242 |
| Doid Id | DOID_0070545 |
| Label | Developmental And Epileptic Encephalopathy 116 |
- Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Amino Acid Metabolism, Inborn Errors(ID:disease_node_1143) (Disease)