{
    "disease_id": "DOID:0111315",
    "recommended_name": {
        "id": "DOID:0111315",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111315",
        "name": "obsolete idiopathic generalized epilepsy 14",
        "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC12A5 on chromosome 20q13.12."
    },
    "synonyms": [
        {
            "id": "MONDO:0014734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014734",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 14",
            "description": ""
        },
        {
            "id": "MONDO:0014734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014734",
            "name": "EIG14",
            "description": ""
        },
        {
            "id": "MONDO:0014734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014734",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 14",
            "description": ""
        },
        {
            "id": "MONDO:0014734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014734",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 14; EIG14",
            "description": ""
        },
        {
            "id": "MONDO:0014734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014734",
            "name": "epilepsy, idiopathic generalized, susceptibility to, type 14",
            "description": ""
        },
        {
            "id": "MONDO:0014734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014734",
            "name": "susceptibility to idiopathic generalised epilepsy 14",
            "description": ""
        },
        {
            "id": "MONDO:0014734",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014734",
            "name": "susceptibility to idiopathic generalized epilepsy 14",
            "description": ""
        },
        {
            "id": "MIM:616685",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616685",
            "name": "Epilepsy, idiopathic generalized 14",
            "description": "Epilepsy, idiopathic generalized 14"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111315"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111315",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111315",
            "categories": []
        },
        {
            "id": "MONDO:0014734",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014734",
            "categories": []
        },
        {
            "id": "MIM:616685",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616685",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9H2X9-1",
            "uniprot_ac": "Q9H2X9",
            "uniprot_id": "S12A5_HUMAN",
            "refseq_ac": "NP_001128243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 12 member 5",
                    "type": "recommended"
                },
                {
                    "name": "Electroneutral potassium-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "K-Cl cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Neuronal K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "electroneutral potassium-chloride cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "erythroid K-Cl cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "hKCC2",
                    "type": "synonym"
                },
                {
                    "name": "neuronal K-Cl cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 (potassium/chloride transporter), member 5",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 12 member 5 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC12A5",
                    "type": "recommended"
                },
                {
                    "name": "DEE34",
                    "type": "synonym"
                },
                {
                    "name": "EIEE34",
                    "type": "synonym"
                },
                {
                    "name": "EIG14",
                    "type": "synonym"
                },
                {
                    "name": "KCC2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1176",
                    "type": "synonym"
                },
                {
                    "name": "SLC12A5",
                    "type": "synonym"
                },
                {
                    "name": "hKCC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H2X9-1",
            "evidence": [
                {
                    "id": "616685",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616685"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111315"
}