{
    "disease_id": "DOID:0080215",
    "recommended_name": {
        "id": "DOID:0080215",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080215",
        "name": "developmental and epileptic encephalopathy 8",
        "description": "A developmental and epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1."
    },
    "synonyms": [
        {
            "id": "DOID:0080215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080215",
            "name": "early infantile epileptic encephalopathy 8",
            "description": ""
        },
        {
            "id": "DOID:0080215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080215",
            "name": "DEE8",
            "description": ""
        },
        {
            "id": "DOID:0080215",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080215",
            "name": "EIEE8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "developmental and epileptic encephalopathy, 8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "DEE8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "EIEE8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "developmental and epileptic encephalopathy 8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "epileptic encephalopathy, early infantile, 8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "epileptic encephalopathy, early infantile, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0010375",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010375",
            "name": "hyperekplexia-epilepsy syndrome",
            "description": ""
        },
        {
            "id": "MIM:300607",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300607",
            "name": "Developmental and epileptic encephalopathy 8",
            "description": "Developmental and epileptic encephalopathy 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080215"
    ],
    "unlinked_id_list": []
}