{
    "disease_id": "DOID:0111298",
    "recommended_name": {
        "id": "DOID:0111298",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111298",
        "name": "familial febrile seizures 8",
        "description": "A familial febrile seizures that has_material_basis_in heterozygous mutation in the GABRG2 gene on chromosome 5q34."
    },
    "synonyms": [
        {
            "id": "DOID:0111298",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111298",
            "name": "FEB8",
            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111298",
            "name": "familial febrile convulsions 8",
            "description": ""
        },
        {
            "id": "MONDO:0011891",
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            "description": "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype."
        },
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            "description": ""
        },
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            "name": "GABRG2 generalised epilepsy with febrile seizures plus",
            "description": ""
        },
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            "description": ""
        },
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            "description": ""
        },
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            "description": ""
        },
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            "description": ""
        },
        {
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            "description": ""
        },
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            "description": ""
        },
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            "description": ""
        },
        {
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            "description": ""
        },
        {
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            "name": "febrile seizures, familial, 8",
            "description": "A childhood absence epilepsy that is characterized by mutations in the GABRG2 gene, which cause a spectrum of seizure disorders, ranging from early-onset isolated febrile seizures (FS) to childhood absence epilepsy (CAE) to generalized epilepsy with febrile seizures plus, type 3 (GEFS+3), which tends to represent a more severe phenotype."
        },
        {
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            "description": ""
        },
        {
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            "description": ""
        },
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            "description": ""
        },
        {
            "id": "MONDO:0011891",
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        },
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            "description": ""
        },
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        },
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            "description": ""
        },
        {
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            "name": "generalized epilepsy with febrile seizures plus, type 3",
            "description": ""
        },
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        },
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            "description": ""
        },
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            "description": ""
        },
        {
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            "url": "https://www.omim.org/entry/607681",
            "name": "Epilepsy, childhood absence 2",
            "description": "Epilepsy, childhood absence 2"
        }
    ],
    "children": [],
    "id_list": [
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    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111298",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111298",
            "categories": []
        },
        {
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            "categories": []
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            "uniprot_ac": "A0AC58I8X7",
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                    "name": "Gamma-aminobutyric acid receptor subunit gamma-2 isoform X1",
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                    "name": "si:ch211-145n14.1",
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                    "name": "GABRG2",
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                    "name": "Rattus norvegicus",
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                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
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                    "name": "CG8916-PB",
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                    "name": "Uncharacterized protein",
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                {
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                    "name": "Dmel\\CG8916",
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            ]
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111298"
}