{
    "disease_id": "DOID:0080456",
    "recommended_name": {
        "id": "DOID:0080456",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080456",
        "name": "developmental and epileptic encephalopathy 46",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months or years of life of intractable seizures, global developmental delay, failure to thrive, hypotonia, hyperreflexia, and variably impaired intellectual development that has_material_basis_in heterozygous mutation in the GRIN2D gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0080456",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080456",
            "name": "DEE46",
            "description": ""
        },
        {
            "id": "DOID:0080456",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080456",
            "name": "early infantile epileptic encephalopathy 46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "developmental and epileptic encephalopathy, 46",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene."
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "DEE46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "EIEE46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "GRIN2D early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "GRIN2D-related DEE",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "GRIN2D-related complex neurodevelopmental disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "GRIN2D-related developmental and epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "developmental and epileptic encephalopathy 46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "early infantile epileptic encephalopathy caused by mutation in GRIN2D",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "epileptic encephalopathy, early infantile, 46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "epileptic encephalopathy, early infantile, 46; EIEE46",
            "description": ""
        },
        {
            "id": "MONDO:0014947",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014947",
            "name": "epileptic encephalopathy, early infantile, type 46",
            "description": ""
        },
        {
            "id": "MIM:617162",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617162",
            "name": "Developmental and epileptic encephalopathy 46",
            "description": "Developmental and epileptic encephalopathy 46"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080456"
    ],
    "unlinked_id_list": []
}