{
    "disease_id": "DOID:0061204",
    "recommended_name": {
        "id": "DOID:0061204",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061204",
        "name": "dihydrolipoamide dehydrogenase deficiency",
        "description": "A maple syrup urine disease characterized biochemically by a combined deficiency of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), pyruvate dehydrogenase complex (PDC), and alpha-ketoglutarate dehydrogenase complex (KGDC) and that has_material_basis_in homozygous or compound heterozygous mutation in the DLD gene on chromosome 7q31."
    },
    "synonyms": [
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "pyruvate dehydrogenase E3 deficiency",
            "description": "Pyruvate dehydrogenase E3 deficiency is a very rare subtype of pyruvate dehydrogenase deficiency (PDHD) characterized by either early-onset lactic acidosis and delayed development, later-onset neurological dysfunction or liver disease."
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "DLD deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "E3-deficient maple syrup urine disease",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "dihydrolipoamide dehydrogenase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "pyruvate dehydrogenase E3 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "DLDD",
            "description": ""
        },
        {
            "id": "MONDO:0009529",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009529",
            "name": "maple syrup urine disease, type III",
            "description": ""
        },
        {
            "id": "MIM:246900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246900",
            "name": "Dihydrolipoamide dehydrogenase deficiency",
            "description": "Dihydrolipoamide dehydrogenase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061204"
    ],
    "unlinked_id_list": []
}