{
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "Leigh syndrome due to pyruvate carboxylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "pyruvate carboxylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "Pc deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "ataxia with lactic acidosis type II"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "ataxia with lactic acidosis 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "deficiency of pyruvic carboxylase"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "ataxia with lactic acidosis type 2"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0009949", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0009949", 
            "name": "Leigh syndrome due to PC deficiency"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:3651", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:3651", 
            "name": "deficiency of pyruvic carboxylase"
        }, 
        {
            "url": "https://www.omim.org/entry/266150", 
            "description": "", 
            "resource": "MIM", 
            "id": "MIM:266150", 
            "name": "Pyruvate carboxylase deficiency"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:3651", 
        "description": "A carbohydrate metabolic disorder that is characterized by deficiency of pyruvate carboxylase causing decreased utilization of carbohydrates and toxic accumulation of lactic acid, possibly has_symptom periodic lactate elevations, gastrointestinal upset, neonatal onset of metabolic acidosis, failure to thrive, developmental delay, seizures, death, and has_material_basis_in  autosomal recessive inheritance of mutation in the PC gene, which encodes pyruvate carboxylase, a critical protein in the citric acid cycle and in gluconeogenesis.", 
        "resource": "Disease Ontology", 
        "id": "DOID:3651", 
        "name": "pyruvate carboxylase deficiency disease"
    }, 
    "evidence": [
        {
            "url": "https://www.omim.org/entry/266150", 
            "id": "266150", 
            "database": "MIM"
        }
    ]
}