{
    "disease_id": "DOID:0112216",
    "recommended_name": {
        "id": "DOID:0112216",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112216",
        "name": "developmental and epileptic encephalopathy 80",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "name": "DEE80",
            "description": ""
        },
        {
            "id": "DOID:0112216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "name": "GPIBD20",
            "description": ""
        },
        {
            "id": "DOID:0112216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "name": "early infantile epileptic encephalopathy 80",
            "description": ""
        },
        {
            "id": "DOID:0112216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "name": "glycosylphosphatidylinositol biosynthesis defect 20",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "developmental and epileptic encephalopathy, 80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "DEE80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "EIEE80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "developmental and epileptic encephalopathy 80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "epileptic encephalopathy, early infantile, 80",
            "description": ""
        },
        {
            "id": "MIM:618580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618580",
            "name": "Developmental and epileptic encephalopathy 80",
            "description": "Developmental and epileptic encephalopathy 80"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112216"
    ],
    "unlinked_id_list": []
}
