{
    "disease_id": "DOID:0111312",
    "recommended_name": {
        "id": "DOID:0111312",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111312",
        "name": "obsolete idiopathic generalized epilepsy 11",
        "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the CLCN2 on chromosome 3q27.1."
    },
    "synonyms": [
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 11",
            "description": "An inherited susceptibility or predisposition to developing epilepsy, idiopathic generalized, in which the cause of the disease is a mutation in the CLCN2 gene."
        },
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "CLCN2 generalised epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "CLCN2 generalized epilepsy",
            "description": ""
        },
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "EIG11",
            "description": ""
        },
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 11",
            "description": ""
        },
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "epilepsy, idiopathic generalized, susceptibility to, type 11",
            "description": ""
        },
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "generalised epilepsy caused by mutation in CLCN2",
            "description": ""
        },
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "generalized epilepsy caused by mutation in CLCN2",
            "description": ""
        },
        {
            "id": "MONDO:0011875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "name": "susceptibility to idiopathic generalised epilepsy 11",
            "description": ""
        },
        {
            "id": "MIM:607628",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607628",
            "name": "Juvenile absence epilepsy 2",
            "description": "Juvenile absence epilepsy 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111312"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111312",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111312",
            "categories": []
        },
        {
            "id": "MONDO:0011875",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011875",
            "categories": []
        },
        {
            "id": "MIM:607628",
            "database": "MIM",
            "url": "https://www.omim.org/entry/607628",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P51788-1",
            "uniprot_ac": "P51788",
            "uniprot_id": "CLCN2_HUMAN",
            "refseq_ac": "NP_001164558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ClC-2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCN2",
                    "type": "recommended"
                },
                {
                    "name": "CIC-2",
                    "type": "synonym"
                },
                {
                    "name": "CLC2",
                    "type": "synonym"
                },
                {
                    "name": "CLCN2",
                    "type": "synonym"
                },
                {
                    "name": "ECA2",
                    "type": "synonym"
                },
                {
                    "name": "ECA3",
                    "type": "synonym"
                },
                {
                    "name": "EGI11",
                    "type": "synonym"
                },
                {
                    "name": "EGI3",
                    "type": "synonym"
                },
                {
                    "name": "EGMA",
                    "type": "synonym"
                },
                {
                    "name": "EJM6",
                    "type": "synonym"
                },
                {
                    "name": "EJM8",
                    "type": "synonym"
                },
                {
                    "name": "FHA2",
                    "type": "synonym"
                },
                {
                    "name": "FHII",
                    "type": "synonym"
                },
                {
                    "name": "HALD2",
                    "type": "synonym"
                },
                {
                    "name": "LKPAT",
                    "type": "synonym"
                },
                {
                    "name": "clC-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P51788-1",
            "evidence": [
                {
                    "id": "607628",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/607628"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111312"
}