Developmental And Epileptic Encephalopathy 95
Disease ID: disease_node_16256
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| Dbxref | MIM:618143 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE95, early infantile epileptic encephalopathy 95 |
| Doid Label | developmental and epileptic encephalopathy 95 |
| Doid Description | A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16256 |
| Doid Id | DOID_0070382 |
| Label | Developmental And Epileptic Encephalopathy 95 |
- 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)