{
    "disease_id": "DOID:0080457",
    "recommended_name": {
        "id": "DOID:0080457",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080457",
        "name": "microcephaly, seizures, and developmental delay",
        "description": "An early infantile epileptic encephalopathy characterized by microcephaly, infantile onset of seizures and developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PNKP gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080457",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080457",
            "name": "early infantile epileptic encephalopathy 10",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "microcephaly, seizures, and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "microcephaly - seizures - developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "epileptic encephalopathy, early infantile, 10",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "EIEE10",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "microcephaly, seizures, and developmental delay; MCSZ",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "microcephaly, seizures, and developmental delay",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "early infantile epileptic encephalopathy-10",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "MCSZ",
            "description": ""
        },
        {
            "id": "MIM:613402",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613402",
            "name": "Microcephaly, seizures, and developmental delay",
            "description": "Microcephaly, seizures, and developmental delay"
        }
    ]
}