| Metadata | |
|---|---|
| ID | DOID:0080768 |
| Name | pyridoxine-dependent epilepsy |
| 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. https://medlineplus.gov/genetics/condition/pyridoxine-dependent-epilepsy/, https://rarediseases.org/rare-diseases/pyridoxine-dependent-epilepsy/ |
| Xrefs |
SNOMEDCT_US_2023_03_01:734434007 |
| SKOS |
exactMatch GARD:9298 exactMatch MESH:C536254 exactMatch ORDO:3006 exactMatch SNOMEDCT_US_2023_03_01:734434007 |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a epilepsy |