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General Information
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| Term |
developmental and epileptic encephalopathy 25 |
ID (Ontology) |
DOID:0080453 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13. |
| Also Known As |
"DEE25" ; "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta" ; "early infantile epileptic encephalopathy 25" |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes | Human Disease Models |
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developmental and epileptic encephalopathy 25 | 4 | 1 | for disease ribbon | developmental and epileptic encephalopathy 25 | 4 | -- | model of | developmental and epileptic encephalopathy 25 | 4 | -- |
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Relationships