{
    "disease_id": "DOID:0080768", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020741", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020741", 
            "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020741", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020741", 
            "name": "epilepsy, pyridoxine-dependent; Epd"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020741", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020741", 
            "name": "AASA dehydrogenase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020741", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020741", 
            "name": "EPD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020741", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020741", 
            "name": "epilepsy, pyridoxine-dependent"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0020741", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0020741", 
            "name": "pyridoxine dependency with seizures"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080768", 
        "description": "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080768", 
        "name": "pyridoxine-dependent epilepsy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080768#disease-associations", 
            "id": "0080768", 
            "database": "Alliance of Genome Resources"
        }
    ]
}