{
    "disease_id": "DOID:3649", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "pyruvate dehydrogenase E3-binding protein deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "dihydrolipoyl dehydrogenase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "diaphorase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "pyruvate dehydrogenase E3-binding PROTEIN deficiency; PDHXD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "Glycine cleavage system L protein deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "branched chain alpha-ketoacid dehydrogenase complex deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "pyruvate dehydrogenase protein X component deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "2-oxoglutarate complex deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "lipoamide dehydrogenase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "lactic acidemia due to defect in lipoyl-containing component 10 of the pyruvate dehydrogenase Complex"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "PDHXD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009503", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009503", 
            "name": "pyruvate dehydrogenase complex component E3 deficiency"
        }, 
        {
            "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"
        }
    ], 
    "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.alliancegenome.org/gene/3649#disease-associations", 
            "id": "3649", 
            "database": "Alliance of Genome Resources"
        }
    ]
}