{
    "disease_id": "DOID:0080449",
    "recommended_name": {
        "id": "DOID:0080449",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0080449",
        "name": "developmental and epileptic encephalopathy 16",
        "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080449",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080449",
            "name": "early infantile epileptic encephalopathy 16",
            "description": ""
        },
        {
            "id": "DOID:0080449",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0080449",
            "name": "DEE16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "developmental and epileptic encephalopathy, 16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "DEE16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "EIEE16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "developmental and epileptic encephalopathy 16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "epileptic encephalopathy, early infantile, 16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "epileptic encephalopathy, early infantile, type 16",
            "description": ""
        },
        {
            "id": "MIM:615338",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615338",
            "name": "Developmental and epileptic encephalopathy 16",
            "description": "Developmental and epileptic encephalopathy 16"
        }
    ]
}