{
    "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": "A developmental and 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": "DOID:0080457",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080457",
            "name": "developmental and epileptic encephalopathy 10",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "microcephaly, seizures, and developmental delay",
            "description": "A developmental and 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."
        },
        {
            "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": "EIEE10",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "MCSZ",
            "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": "epileptic encephalopathy, early infantile, 10",
            "description": ""
        },
        {
            "id": "MONDO:0013254",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013254",
            "name": "microcephaly - seizures - developmental delay",
            "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"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080457"
    ],
    "unlinked_id_list": []
}