{
    "disease_id": "DOID:0080285",
    "recommended_name": {
        "id": "DOID:0080285",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080285",
        "name": "developmental and epileptic encephalopathy 58",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of infantile spasms and refractory seizures, global developmental delay, and impaired intellectual development that has_material_basis_in heterozygous mutation in the NTRK2 gene on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080285",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080285",
            "name": "DEE58",
            "description": ""
        },
        {
            "id": "DOID:0080285",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080285",
            "name": "early infantile epileptic encephalopathy 58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "developmental and epileptic encephalopathy, 58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "DEE58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "EIEE58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "developmental and epileptic encephalopathy 58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "epileptic encephalopathy, early infantile, 58",
            "description": ""
        },
        {
            "id": "MONDO:0033367",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033367",
            "name": "infantile epileptic encephalopathy 58",
            "description": ""
        },
        {
            "id": "MIM:617830",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617830",
            "name": "Developmental and epileptic encephalopathy 58",
            "description": "Developmental and epileptic encephalopathy 58"
        }
    ]
}