{
    "disease_id": "DOID:0080769",
    "recommended_name": {
        "id": "DOID:0080769",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080769",
        "name": "early-onset vitamin B6-dependent epilepsy 1",
        "description": "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23."
    },
    "synonyms": [
        {
            "id": "DOID:0080769",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080769",
            "name": "EPEO1",
            "description": ""
        },
        {
            "id": "DOID:0080769",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080769",
            "name": "PDE-PLPBP",
            "description": ""
        },
        {
            "id": "MONDO:0015005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "name": "epilepsy, early-onset, vitamin B6-dependent",
            "description": "A pyridoxine-dependent epilepsy that has material basis in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23."
        },
        {
            "id": "MONDO:0015005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "name": "EPVB6D",
            "description": ""
        },
        {
            "id": "MONDO:0015005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "name": "epilepsy, early-onset, vitamin B6-dependent",
            "description": ""
        },
        {
            "id": "MONDO:0015005",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015005",
            "name": "epilepsy, early-onset, vitamin B6-dependent; EPVB6D",
            "description": ""
        },
        {
            "id": "MIM:617290",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617290",
            "name": "Epilepsy, early-onset, 1, vitamin B6-dependent",
            "description": "Epilepsy, early-onset, 1, vitamin B6-dependent"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080769"
    ],
    "unlinked_id_list": []
}