Developmental And Epileptic Encephalopathy 80
Disease ID: disease_node_16173
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| Dbxref | MIM:618580 |
|---|---|
| Subclassof | DOID_0050737, DOID_0112202 |
| Data Source | DOID |
| Synonyms | DEE80, GPIBD20, early infantile epileptic encephalopathy 80, glycosylphosphatidylinositol biosynthesis defect 20 |
| Doid Label | developmental and epileptic encephalopathy 80 |
| Doid Description | A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16173 |
| Doid Id | DOID_0112216 |
| Label | Developmental And Epileptic Encephalopathy 80 |
- 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)