{
    "disease_id": "DOID:0080769", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015005", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015005", 
            "name": "epilepsy, early-onset, vitamin B6-dependent"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015005", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015005", 
            "name": "EPVB6D"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0015005", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0015005", 
            "name": "epilepsy, early-onset, vitamin B6-dependent; EPVB6D"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080769", 
        "description": "An epilepsy that is characterized by onset of seizures in the neonatal period or first months of life, with seizures showing favorable response to treatment with activated vitamin B6 (pyridoxal 5-prime-phosphate; PLP) and/or pyridoxine, and that has_material_basis_in homozygous or compound heterozygous mutation in the PROSC gene (PLPBP) on chromosome 8p11.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080769", 
        "name": "early-onset vitamin B6-dependent epilepsy"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0080769#disease-associations", 
            "id": "0080769", 
            "database": "Alliance of Genome Resources"
        }
    ]
}