{
    "disease_id": "DOID:0050659", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011841", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011841", 
            "name": "biotin-thiamine-responsive basal ganglia disease"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011841", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011841", 
            "name": "THMD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011841", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011841", 
            "name": "basal ganglia disease, biotin-responsive"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011841", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011841", 
            "name": "BTBGD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011841", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011841", 
            "name": "BBGD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011841", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011841", 
            "name": "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type); THMD2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011841", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011841", 
            "name": "thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive type)"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0011841", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0011841", 
            "name": "encephalopathy, thiamine-responsive"
        }, 
        {
            "url": "https://www.omim.org/entry/607483", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:607483", 
            "name": "Thiamine metabolism dysfunction syndrome 2, biotin- or thiamine-responsive type"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0050659", 
        "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.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0050659", 
        "name": "biotin-responsive basal ganglia disease"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/607483", 
            "id": "607483", 
            "database": "MIM"
        }
    ]
}