FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
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 "EPEO3"
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Links to External Ontologies
DO.org
Annotations
Records annotated with this term OR any of its CHILD TERMS
Records annotated with this exact term (annotations to child terms are NOT included)
Data Class Field Records
Alleles (FBal)  HUMAN_DISEASE_INTERACTIONS       1
Human Disease Models (FBhh)  DOID       1
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 Full annotation statements 
Relevant FlyBase reports
 Alleles Genes Human Disease Models
 early-onset epilepsy 3       1      5      1
 for disease ribbon | early-onset epilepsy 3       --       5       --
 model of | early-onset epilepsy 3       1      5       --
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease__
brain disease                   |
 |__epilepsy____________________|
                                early-onset epilepsy 3  7 rec.
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Is a autosomal dominant disease
epilepsy
Part of
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Synonyms
  • "EPEO3" EXACT OMO:0003012
Secondary IDs
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MIM:620465