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General Information
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| Term |
developmental and epileptic encephalopathy 8 |
ID (Ontology) |
DOID:0080215 (Human Disease) |
| Definition |
A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1. |
| Also Known As |
"DEE8" ; "early infantile epileptic encephalopathy 8" ; "EIEE8" |
| 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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No relevant records available
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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 |
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developmental and epileptic encephalopathy 8 | 1 | for disease ribbon | developmental and epileptic encephalopathy 8 | 1 | model of | developmental and epileptic encephalopathy 8 | 1 |
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Relationships