WormBase Tree Display for DO_term: DOID:0112218
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| DOID:0112218 | Name | developmental and epileptic encephalopathy 83 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in the UGP2 gene on chromosome 2p15. | ||||
| Synonym | Exact | DEE83 | |||
| early infantile epileptic encephalopathy 83 | |||||
| Parent | Is_a | DOID:0050737 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 618744 | |
| Attribute_of | Gene_by_orthology | WBGene00010665 |
