{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009502", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009502", 
            "name": "pyruvate dehydrogenase E2 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009502", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009502", 
            "name": "dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009502", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009502", 
            "name": "PDHDD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009502", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009502", 
            "name": "pyruvate dehydrogenase E2 deficiency; PDHDD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009502", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009502", 
            "name": "pyruvate dehydrogenase complex component E2 deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009502", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009502", 
            "name": "dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009502", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009502", 
            "name": "lactic acidemia due to defect of E2 lipoyl transacetylase of the pyruvate dehydrogenase Complex"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:3649", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:3649", 
            "name": "deficiency of pyruvic dehydrogenase"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:3649", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:3649", 
            "name": "pyruvate dehydrogenase complex deficiency disease"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:3649", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:3649", 
            "name": "pyruvate dehydrogenase deficiency"
        }, 
        {
            "url": "https://www.omim.org/entry/245348", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:245348", 
            "name": "Pyruvate dehydrogenase E2 deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:3649", 
        "description": "A carbohydrate metabolic disorder characterized by the buildup of lactic acid in the body and a variety of neurological problems and caused by a deficiency of one of the three enzymes in the pyruvate dehydrogenase complex.", 
        "resource": "Disease Ontology", 
        "id": "DOID:3649", 
        "name": "pyruvate decarboxylase deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/245348", 
            "id": "245348", 
            "database": "MIM"
        }
    ]
}