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General Information
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| Term |
early-onset epilepsy 3 |
ID (Ontology) |
DOID:0070472 (Human Disease) |
| Definition |
An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. |
| Also Known As |
"early-onset epilepsy 3 with or without developmental delay" ; "EPEO3" |
| 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 | 1 | | 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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early-onset epilepsy 3 | 1 | 5 | 1 | for disease ribbon | early-onset epilepsy 3 | -- | 5 | -- | model of | early-onset epilepsy 3 | 1 | 5 | -- |
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Relationships