WormBase Tree Display for DO_term: DOID:0112216
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| DOID:0112216 | Name | developmental and epileptic encephalopathy 80 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | 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. | ||||
| Synonym | Exact | DEE80 | |||
| GPIBD20 | |||||
| early infantile epileptic encephalopathy 80 | |||||
| glycosylphosphatidylinositol biosynthesis defect 20 | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 618580 | |
| Attribute_of | Gene_by_orthology | WBGene00194986 |
