{
    "disease_id": "DOID:0080448",
    "recommended_name": {
        "id": "DOID:0080448",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080448",
        "name": "developmental and epileptic encephalopathy 48",
        "description": "A developmental and epileptic encephalopathy characterized by seizure onset before 1 year of age, global developmental delay, intellectual disability, absent speech, and minimal or absent motor development that has_material_basis_in homozygous or compound heterozygous mutation in the AP3B2 gene on chromosome 15q25."
    },
    "synonyms": [
        {
            "id": "DOID:0080448",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080448",
            "name": "DEE48",
            "description": ""
        },
        {
            "id": "DOID:0080448",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080448",
            "name": "early infantile epileptic encephalopathy 48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "developmental and epileptic encephalopathy, 48",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene."
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "AP3B2 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "DEE48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "EIEE48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "developmental and epileptic encephalopathy 48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "early infantile epileptic encephalopathy caused by mutation in AP3B2",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "epileptic encephalopathy, early infantile, 48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "epileptic encephalopathy, early infantile, 48; EIEE48",
            "description": ""
        },
        {
            "id": "MONDO:0015000",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0015000",
            "name": "epileptic encephalopathy, early infantile, type 48",
            "description": ""
        },
        {
            "id": "MIM:617276",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617276",
            "name": "Developmental and epileptic encephalopathy 48",
            "description": "Developmental and epileptic encephalopathy 48"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080448"
    ],
    "unlinked_id_list": []
}