Developmental And Epileptic Encephalopathy 35
Disease ID: disease_node_16206
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:616647, ORDO:457375 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE35, ITPA-related encephalopathy, early infantile epileptic encephalopathy 35 |
| Doid Label | developmental and epileptic encephalopathy 35 |
| Doid Description | A developmental and epileptic encephalopathy characterized by seizure onset in the first months of life, absence of normal development and absence of myelination of early neurological structures that has_material_basis_in homozygous or compound heterozygous mutation in the ITPA gene on chromosome 20p13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16206 |
| Doid Id | DOID_0080458 |
| Label | Developmental And Epileptic Encephalopathy 35 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Developmental And Epileptic Encephalopathy(ID:disease_node_16165) (Disease)