{
    "disease_id": "DOID:0111313",
    "recommended_name": {
        "id": "DOID:0111313",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111313",
        "name": "obsolete idiopathic generalized epilepsy 12",
        "description": "An idiopathic generalized epilepsy that has_material_basis_in heterozygous mutation in the SLC2A1 on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111313",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111313",
            "name": "EIG12",
            "description": ""
        },
        {
            "id": "MONDO:0013919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013919",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 12",
            "description": ""
        },
        {
            "id": "MONDO:0013919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013919",
            "name": "EIG12",
            "description": ""
        },
        {
            "id": "MONDO:0013919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013919",
            "name": "epilepsy, idiopathic generalized, susceptibility to, 12",
            "description": ""
        },
        {
            "id": "MONDO:0013919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013919",
            "name": "epilepsy, idiopathic generalized, susceptibility to, type 12",
            "description": ""
        },
        {
            "id": "MONDO:0013919",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013919",
            "name": "susceptibility to idiopathic generalised epilepsy 12",
            "description": ""
        },
        {
            "id": "MIM:614847",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614847",
            "name": "Epilepsy, idiopathic generalized 12",
            "description": "Epilepsy, idiopathic generalized 12"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111313"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111313",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111313",
            "categories": []
        },
        {
            "id": "MONDO:0013919",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013919",
            "categories": []
        },
        {
            "id": "MIM:614847",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614847",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P11166-1",
            "uniprot_ac": "P11166",
            "uniprot_id": "GTR1_HUMAN",
            "refseq_ac": "NP_006507",
            "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 2, facilitated glucose transporter member 1",
                    "type": "recommended"
                },
                {
                    "name": "GLUT-1",
                    "type": "synonym"
                },
                {
                    "name": "Glucose transporter type 1, erythrocyte/brain",
                    "type": "synonym"
                },
                {
                    "name": "HepG2 glucose transporter",
                    "type": "synonym"
                },
                {
                    "name": "choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)",
                    "type": "synonym"
                },
                {
                    "name": "dystonia gene 18",
                    "type": "synonym"
                },
                {
                    "name": "dystonia gene 9",
                    "type": "synonym"
                },
                {
                    "name": "glucose transporter type 1, erythrocyte/brain",
                    "type": "synonym"
                },
                {
                    "name": "hepG2 glucose transporter",
                    "type": "synonym"
                },
                {
                    "name": "human T-cell leukemia virus (I and II) receptor",
                    "type": "synonym"
                },
                {
                    "name": "receptor for HTLV-1 and HTLV-2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2 (facilitated glucose transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 2, facilitated glucose transporter member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC2A1",
                    "type": "recommended"
                },
                {
                    "name": "CSE",
                    "type": "synonym"
                },
                {
                    "name": "DYT17",
                    "type": "synonym"
                },
                {
                    "name": "DYT18",
                    "type": "synonym"
                },
                {
                    "name": "DYT9",
                    "type": "synonym"
                },
                {
                    "name": "EIG12",
                    "type": "synonym"
                },
                {
                    "name": "GLUT-1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1DS",
                    "type": "synonym"
                },
                {
                    "name": "GLUT1",
                    "type": "synonym"
                },
                {
                    "name": "GLUT",
                    "type": "synonym"
                },
                {
                    "name": "HTLVR",
                    "type": "synonym"
                },
                {
                    "name": "PED",
                    "type": "synonym"
                },
                {
                    "name": "SDCHCN",
                    "type": "synonym"
                },
                {
                    "name": "SLC2A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P11166-1",
            "evidence": [
                {
                    "id": "614847",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614847"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111313"
}