{
    "disease_id": "DOID:0111292",
    "recommended_name": {
        "id": "DOID:0111292",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111292",
        "name": "obsolete idiopathic generalized epilepsy 10",
        "description": "An idiopathic generalized epilepsy that has_material_basis_in variation in the GABRD on chromosome 1p36.33."
    },
    "synonyms": [
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 10",
            "description": "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the GABRD gene."
        },
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "EIG10",
            "description": ""
        },
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "epilepsy, idiopathic generalized, 10",
            "description": ""
        },
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 10",
            "description": ""
        },
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "epilepsy, idiopathic generalized, susceptibility to, type 10",
            "description": ""
        },
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "epilepsy, juvenile myoclonic, susceptibility to",
            "description": ""
        },
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "susceptibility to idiopathic generalised epilepsy 10",
            "description": ""
        },
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "susceptibility to idiopathic generalized epilepsy 10",
            "description": ""
        },
        {
            "id": "MONDO:0013103",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "name": "generalised epilepsy with febrile seizures plus, type 5, susceptibility to",
            "description": ""
        },
        {
            "id": "MIM:613060",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613060",
            "name": "Epilepsy, idiopathic generalized 10",
            "description": "Epilepsy, idiopathic generalized 10"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111292"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111292",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111292",
            "categories": []
        },
        {
            "id": "MONDO:0013103",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013103",
            "categories": []
        },
        {
            "id": "MIM:613060",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613060",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O14764-1",
            "uniprot_ac": "O14764",
            "uniprot_id": "GBRD_HUMAN",
            "refseq_ac": "NP_000806",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gamma-aminobutyric acid receptor subunit delta",
                    "type": "recommended"
                },
                {
                    "name": "GABA(A) receptor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "GABA(A) receptor, delta",
                    "type": "synonym"
                },
                {
                    "name": "GABA-A receptor, delta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "GABAAR subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid (GABA) A receptor, delta",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit delta precursor",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid receptor subunit delta",
                    "type": "synonym"
                },
                {
                    "name": "gamma-aminobutyric acid type A receptor delta subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GABRD",
                    "type": "recommended"
                },
                {
                    "name": "EIG10",
                    "type": "synonym"
                },
                {
                    "name": "EJM7",
                    "type": "synonym"
                },
                {
                    "name": "GABAARdelta",
                    "type": "synonym"
                },
                {
                    "name": "GABRD",
                    "type": "synonym"
                },
                {
                    "name": "GEFSP5",
                    "type": "synonym"
                }
            ],
            "record_id": "O14764-1",
            "evidence": [
                {
                    "id": "613060",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613060"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111292"
}