{
    "disease_id": "DOID:0111316",
    "recommended_name": {
        "id": "DOID:0111316",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111316",
        "name": "obsolete idiopathic generalized epilepsy 15",
        "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the RORB on chromosome 9q21.13."
    },
    "synonyms": [
        {
            "id": "MONDO:0032699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032699",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 15",
            "description": ""
        },
        {
            "id": "MONDO:0032699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032699",
            "name": "EIG15",
            "description": ""
        },
        {
            "id": "MIM:618357",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618357",
            "name": "Epilepsy, idiopathic generalized 15",
            "description": "Epilepsy, idiopathic generalized 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111316"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111316",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111316",
            "categories": []
        },
        {
            "id": "MONDO:0032699",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032699",
            "categories": []
        },
        {
            "id": "MIM:618357",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618357",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q92753-2",
            "uniprot_ac": "Q92753",
            "uniprot_id": "RORB_HUMAN",
            "refseq_ac": "NP_001351952",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Nuclear receptor ROR-beta",
                    "type": "recommended"
                },
                {
                    "name": "Nuclear receptor RZR-beta",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear receptor subfamily 1 group F member 2",
                    "type": "synonym"
                },
                {
                    "name": "RAR-related orphan receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "Retinoid-related orphan receptor-beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor ROR-beta isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor ROR-beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor RZR-beta",
                    "type": "synonym"
                },
                {
                    "name": "nuclear receptor subfamily 1 group F member 2",
                    "type": "synonym"
                },
                {
                    "name": "retinoic acid-binding receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "retinoid Z receptor beta",
                    "type": "synonym"
                },
                {
                    "name": "retinoid-related orphan receptor beta",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RORB",
                    "type": "recommended"
                },
                {
                    "name": "EIG15",
                    "type": "synonym"
                },
                {
                    "name": "NR1F2",
                    "type": "synonym"
                },
                {
                    "name": "ROR-BETA",
                    "type": "synonym"
                },
                {
                    "name": "RORB",
                    "type": "synonym"
                },
                {
                    "name": "RORbeta",
                    "type": "synonym"
                },
                {
                    "name": "RZR-BETA",
                    "type": "synonym"
                },
                {
                    "name": "RZRB",
                    "type": "synonym"
                },
                {
                    "name": "bA133M9.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92753-2",
            "evidence": [
                {
                    "id": "618357",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618357"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111316"
}