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General Information
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| Term |
Dravet syndrome |
ID (Ontology) |
DOID:0080422 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by onset of seizures that are usually refractory to treatment in the first year of life after normal early development and impaired psychomoter development starting around the second year of life that has_material_basis_in heterozygous mutation in the SCN1A gene on chromosome 2q24. |
| Also Known As |
"DEE6" ; "DEE6A" ; "developmental and epileptic encephalopathy 6" (for all, see Synonyms field below) |
| Comment |
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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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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 4 | | 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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| Alleles | Genes | Human Disease Models |
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Dravet syndrome | 4 | 1 | 1 | for disease ribbon | Dravet syndrome | -- | 1 | -- | model of | Dravet syndrome | 4 | 1 | -- |
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Relationships