{
    "disease_id": "DOID:0070560",
    "recommended_name": {
        "id": "DOID:0070560",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070560",
        "name": "glucose transporter type 1 deficiency syndrome",
        "description": "A glucose metabolism disease characterized by deficient glucose transport over the blood-brain barrier and reduced glucose availability in the central nervous system that has_material_basis_in mutation in the SLC2A1 gene on chromosome 1p34.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070560",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070560",
            "name": "GLUT1DS",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "encephalopathy due to GLUT1 deficiency",
            "description": "Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation."
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "De Vivo disease",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 deficiency syndrome 1, infantile onset, severe",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 deficiency syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1-DS",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "Glucose Transporter Type 1 Deficiency Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "encephalopathy due to GLUT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter type 1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glut-1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "G1D",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 DS",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1 deficiency syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "GLUT1DS1",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose TRANSPORT defect, blood-brain barrier GLUT1 deficiency syndrome 1, autosomal recessive, included",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transport defect, blood-brain barrier",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter Protein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter protein syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter type 1 deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011724",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011724",
            "name": "glucose transporter type1 (glut-1) deficiency",
            "description": ""
        },
        {
            "id": "MIM:606777",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606777",
            "name": "GLUT1 deficiency syndrome 1",
            "description": "GLUT1 deficiency syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070561",
            "label": "glucose transporter type 1 deficiency syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090044",
            "label": "dystonia 9",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090045",
            "label": "glucose transporter type 1 deficiency syndrome 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0090045",
        "DOID:0070561",
        "DOID:0070560",
        "DOID:0090044"
    ],
    "unlinked_id_list": []
}