{
    "disease_id": "DOID:0080416",
    "recommended_name": {
        "id": "DOID:0080416",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080416",
        "name": "developmental and epileptic encephalopathy 32",
        "description": "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080416",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080416",
            "name": "DEE32",
            "description": ""
        },
        {
            "id": "DOID:0080416",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080416",
            "name": "early infantile epileptic encephalopathy 32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "developmental and epileptic encephalopathy, 32",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene."
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "DEE32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "EIEE32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "KCNA2 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "developmental and epileptic encephalopathy 32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "early infantile epileptic encephalopathy caused by mutation in KCNA2",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "epileptic encephalopathy, early infantile, 32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "epileptic encephalopathy, early infantile, type 32",
            "description": ""
        },
        {
            "id": "MIM:616366",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616366",
            "name": "Developmental and epileptic encephalopathy 32",
            "description": "Developmental and epileptic encephalopathy 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080416"
    ],
    "unlinked_id_list": []
}