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Ontology Browser
Term:
familial focal epilepsy with variable foci 1 (DOID:0081421)
Annotations: Rat: (5) Mouse: (5) Human: (10) Chinchilla: (4) Bonobo: (6) Dog: (5) Squirrel: (4) Pig: (4) Naked Mole-rat: (4) Green Monkey: (5)
Parent Terms Term With Siblings Child Terms
familial focal epilepsy with variable foci 1  
A familial focal epilepsy with variable foci that is characterized by focal seizures arising from different cortical regions in different family members and that has_material_basis_in heterozygous mutation in the DEPDC5 gene on chromosome 22q12. (DO)
familial focal epilepsy with variable foci 2  
familial focal epilepsy with variable foci 3  
familial focal epilepsy with variable foci 4  

Synonyms
Exact Synonyms: FFEVF1 ;   partial epilepsy with variable foci
Broad Synonyms: DEPDC5-related disorder
Primary IDs: MESH:C565785
Alternate IDs: DOID:9001601 ;   OMIM:604364
Xrefs: NCI:C161005
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/32848577/ "DO" "DO"

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