{
    "disease_id": "DOID:0050659",
    "recommended_name": {
        "id": "DOID:0050659",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050659",
        "name": "biotin-responsive basal ganglia disease",
        "description": "A basal ganglia disease that is characterized by recurrent subacute encephalopathy, has_symptom confusion, has_symptom seizure, has_symptom ataxia, has_symptom dystonia, has_symptom supranuclear facial palsy, has_symptom external ophthalmoplegia, and has_symptom dysphagia."
    },
    "synonyms": [
        {
            "id": "DOID:0050659",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050659",
            "name": "biotin-thiamine-responsive basal ganglia disease",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "biotin-responsive basal ganglia disease",
            "description": "Any thiamine-responsive dysfunction syndrome in which the cause of the disease is a variation in the SLC19A3 gene, characterized by subacute encephalopathy with confusion, seizures, and movement disorder, often following a history of febrile illness."
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "BBGD",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "BTBGD",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "THMD2",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "biotin-responsive basal ganglia disease",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "biotin-thiamine-responsive basal ganglia disease",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "encephalopathy, thiamine-responsive",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "thiamine metabolism dysfunction syndrome 2 (biotin- and thiamine-responsive type)",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "thiamine-responsive encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0011841",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011841",
            "name": "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)",
            "description": ""
        },
        {
            "id": "MIM:607483",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/607483",
            "name": "Basal ganglia disease, biotin-thiamine responsive",
            "description": "Basal ganglia disease, biotin-thiamine responsive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050659"
    ],
    "unlinked_id_list": []
}
