{
    "disease_id": "DOID:0070519",
    "recommended_name": {
        "id": "DOID:0070519",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070519",
        "name": "early-onset vitamin B6-dependent epilepsy 4",
        "description": "A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "name": "AASA dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "name": "EPEO4",
            "description": ""
        },
        {
            "id": "DOID:0070519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "name": "PDE-ALDH7A1",
            "description": ""
        },
        {
            "id": "DOID:0070519",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070519",
            "name": "antiquitin deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0020741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant",
            "description": ""
        },
        {
            "id": "MONDO:0020741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "name": "pyridoxine-dependent epilepsy caused by ALDH7A1 mutant",
            "description": ""
        },
        {
            "id": "MONDO:0020741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "name": "EPD",
            "description": ""
        },
        {
            "id": "MONDO:0020741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020741",
            "name": "epilepsy, pyridoxine-dependent",
            "description": ""
        },
        {
            "id": "MIM:266100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/266100",
            "name": "Epilepsy, early-onset, 4, vitamin B6-dependent",
            "description": "Epilepsy, early-onset, 4, vitamin B6-dependent"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070519"
    ],
    "unlinked_id_list": []
}