{
    "disease_id": "DOID:0112212",
    "recommended_name": {
        "id": "DOID:0112212",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112212",
        "name": "developmental and epileptic encephalopathy 76",
        "description": "A developmental and epileptic encephalopathy characterized by early-onset, usually refractory, seizures, severely delayed global development, hypotonia, peripheral spasticity, and abnormalities on brain imaging that has_material_basis_in homozygous or compound heterozygous mutation in the ACTL6B gene on chromosome 7q22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "name": "DECAM",
            "description": ""
        },
        {
            "id": "DOID:0112212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "name": "DEE76",
            "description": ""
        },
        {
            "id": "DOID:0112212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "name": "early infantile epileptic encephalopathy 76",
            "description": ""
        },
        {
            "id": "DOID:0112212",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112212",
            "name": "developmental delay, epileptic endephalopathy, cerebral atrophy, and abnormal myelination",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "developmental and epileptic encephalopathy, 76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "DEE76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "EIEE76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "developmental and epileptic encephalopathy 76",
            "description": ""
        },
        {
            "id": "MONDO:0032768",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032768",
            "name": "epileptic encephalopathy, early infantile, 76",
            "description": ""
        },
        {
            "id": "MIM:618468",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618468",
            "name": "Developmental and epileptic encephalopathy 76",
            "description": "Developmental and epileptic encephalopathy 76"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112212"
    ],
    "unlinked_id_list": []
}
