WormBase Tree Display for DO_term: DOID:0070390
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| DOID:0070390 | Name | developmental and epileptic encephalopathy 104 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A developmental and epileptic encephalopathy characterized by developmental delay in the first few months of life and drug-resistant focal and generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the ATP6V0A1 on chromosome 17q21. | ||||
| Synonym | Exact | DEE104 | |||
| early infantile epileptic encephalopathy 104 | |||||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0112202 | |||||
| DB_info | Database | OMIM | disease | 619970 | |
| Attribute_of | Gene_by_orthology | WBGene00006768 | |||
| WBGene00006914 | |||||
| WBGene00006915 | |||||
| WBGene00006916 |
