{
    "disease_id": "DOID:0070382",
    "recommended_name": {
        "id": "DOID:0070382",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070382",
        "name": "developmental and epileptic encephalopathy 95",
        "description": "A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070382",
            "name": "DEE95",
            "description": ""
        },
        {
            "id": "DOID:0070382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070382",
            "name": "early infantile epileptic encephalopathy 95",
            "description": ""
        },
        {
            "id": "MONDO:0029140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "name": "glycosylphosphatidylinositol biosynthesis defect 18",
            "description": ""
        },
        {
            "id": "MONDO:0029140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "name": "developmental and epileptic encephalopathy 95",
            "description": ""
        },
        {
            "id": "MONDO:0029140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "name": "glycosylphosphatidylinositol biosynthesis defect 18",
            "description": ""
        },
        {
            "id": "MONDO:0029140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "name": "GPIBD18",
            "description": ""
        },
        {
            "id": "MIM:618143",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618143",
            "name": "Glycosylphosphatidylinositol biosynthesis defect 18",
            "description": "Glycosylphosphatidylinositol biosynthesis defect 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070382"
    ],
    "unlinked_id_list": []
}