FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term pyridoxine-dependent epilepsy ID (Ontology) DOID:0080768 (Human Disease)
Definition An epilepsy that is characterized by intractable seizures within the first weeks to months of life that are not controlled with antiepileptic drugs but respond both clinically and electrographically to large daily supplements of pyridoxine.
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DO.org
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
brain disease                    |
 |__epilepsy_____________________|
                                 pyridoxine-dependent epilepsy  2 rec.
                                  |__early-onset vitamin B6-dependent epilepsy 1 1 rec.
                                  |__early-onset vitamin B6-dependent epilepsy 4 1 rec.
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Is a autosomal recessive disease
epilepsy
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Synonyms
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GARD:9298
MESH:C536254
ORDO:3006
SNOMEDCT_US_2023_03_01:734434007
UMLS_CUI:C1849508