DO_rare_slim has material basis in autosomal recessive disease pyridoxine-dependent epilepsy MESH:C536254 GARD:9298 UMLS_CUI:C1849508 NCI:C210888 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. MESH:C536254 disease_ontology ORDO:3006 SNOMEDCT_US_2025_09_01:734434007 ORDO:3006 SNOMEDCT_US_2023_03_01:734434007 GARD:9298 UMLS_CUI:C1849508 DOID:0080768 epilepsy autosomal recessive inheritance