{
    "disease_id": "DOID:0111323",
    "recommended_name": {
        "id": "DOID:0111323",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111323",
        "name": "obsolete idiopathic generalized epilepsy 9",
        "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CACNB4 on chromosome 2q23.3."
    },
    "synonyms": [
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 9",
            "description": "Any generalized epilepsy in which the cause of the disease is a mutation in the CACNB4 gene."
        },
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "CACNB4 generalised epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "CACNB4 generalized epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 9",
            "description": ""
        },
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "epilepsy, idiopathic generalized, susceptibility to, type 9",
            "description": ""
        },
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "generalised epilepsy caused by mutation in CACNB4",
            "description": ""
        },
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "generalized epilepsy caused by mutation in CACNB4",
            "description": ""
        },
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "EIG9",
            "description": ""
        },
        {
            "id": "MONDO:0011892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "name": "susceptibility to idiopathic generalised epilepsy 9",
            "description": ""
        },
        {
            "id": "MIM:607682",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607682",
            "name": "Epilepsy, idiopathic generalized 9",
            "description": "Epilepsy, idiopathic generalized 9"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111323"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111323",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111323",
            "categories": []
        },
        {
            "id": "MONDO:0011892",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011892",
            "categories": []
        },
        {
            "id": "MIM:607682",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607682",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O00305-1",
            "uniprot_ac": "O00305",
            "uniprot_id": "CACB4_HUMAN",
            "refseq_ac": "NP_000717",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-dependent L-type calcium channel subunit beta-4",
                    "type": "recommended"
                },
                {
                    "name": "CAB4",
                    "type": "synonym"
                },
                {
                    "name": "Calcium channel voltage-dependent subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "calcium channel voltage-dependent subunit beta 4",
                    "type": "synonym"
                },
                {
                    "name": "dihydropyridine-sensitive L-type, calcium channel beta-4 subunit",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-4 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "voltage-dependent L-type calcium channel subunit beta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CACNB4",
                    "type": "recommended"
                },
                {
                    "name": "CAB4",
                    "type": "synonym"
                },
                {
                    "name": "CACNB4",
                    "type": "synonym"
                },
                {
                    "name": "CACNLB4",
                    "type": "synonym"
                },
                {
                    "name": "EA5",
                    "type": "synonym"
                },
                {
                    "name": "EIG9",
                    "type": "synonym"
                },
                {
                    "name": "EJM4",
                    "type": "synonym"
                },
                {
                    "name": "EJM6",
                    "type": "synonym"
                },
                {
                    "name": "EJM",
                    "type": "synonym"
                }
            ],
            "record_id": "O00305-1",
            "evidence": [
                {
                    "id": "607682",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607682"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111323"
}