{
    "disease_id": "DOID:0090045",
    "recommended_name": {
        "id": "DOID:0090045",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0090045",
        "name": "childhood onset GLUT1 deficiency syndrome 2",
        "description": "A dystonia that is characterized by paroxysmal exercise-induced dyskinesia involving transient abnormal involuntary movements in the exercised limbs, and that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the solute carrier family 2 member 1 (SLC2A1) gene on chromosome 1p34."
    },
    "synonyms": [
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "childhood onset GLUT1 deficiency syndrome 2",
            "description": "Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities."
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic Anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "ped",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "paroxysmal exercise-induced dystonia",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "GLUT1 deficiency syndrome 2; GLUT1DS2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "GLUT1 deficiency syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "GLUT1DS2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "GLUT1 deficiency syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "dystonia 18",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic Anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "childhood onset GLUT1 deficiency syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "ped with or without epilepsy and/or hemolytic Anemia",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "DYT18",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "paroxysmal exertion-induced dyskinesia",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "DYT-SLC2A1",
            "description": ""
        },
        {
            "id": "MONDO:0012805",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012805",
            "name": "PxMD-SLC2A1",
            "description": ""
        },
        {
            "id": "MIM:612126",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612126",
            "name": "GLUT1 deficiency syndrome 2",
            "description": "GLUT1 deficiency syndrome 2"
        }
    ]
}