{
    "disease_id": "DOID:0080363",
    "recommended_name": {
        "id": "DOID:0080363",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080363",
        "name": "mitochondrial pyruvate carrier deficiency",
        "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."
    },
    "synonyms": [
        {
            "id": "MONDO:0013877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013877",
            "name": "mitochondrial pyruvate carrier deficiency",
            "description": "An autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation."
        },
        {
            "id": "MONDO:0013877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013877",
            "name": "mitochondrial pyruvate carrier deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013877",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013877",
            "name": "MPYCD",
            "description": ""
        },
        {
            "id": "MIM:614741",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614741",
            "name": "Mitochondrial pyruvate carrier deficiency",
            "description": "Mitochondrial pyruvate carrier deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080363"
    ],
    "unlinked_id_list": []
}