{
    "disease_id": "DOID:0080363", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013877", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013877", 
            "name": "MPYCD"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013877", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013877", 
            "name": "mitochondrial pyruvate carrier deficiency; MPYCD"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0080363", 
        "description": "A mitochondrial metabolism disease that is characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation and has_material_basis_in homozygous mutation in the BRP44L gene on chromosome 6q27.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0080363", 
        "name": "mitochondrial pyruvate carrier deficiency"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/614741", 
            "id": "614741", 
            "database": "MIM"
        }
    ]
}