{
    "disease_id": "DOID:0061203",
    "recommended_name": {
        "id": "DOID:0061203",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061203",
        "name": "maple syrup urine disease type IA",
        "description": "A maple syrup urine disease characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHA gene, which encodes the E1-alpha subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "MONDO:0023691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "name": "maple syrup urine disease type 1A",
            "description": "A maple syrup urine disease caused by mutations in BCKDHA."
        },
        {
            "id": "MONDO:0023691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "name": "maple syrup urine disease type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0023691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "name": "maple syrup urine disease, type IA",
            "description": ""
        },
        {
            "id": "MONDO:0023691",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023691",
            "name": "MSUD type 1A",
            "description": ""
        },
        {
            "id": "MIM:248600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/248600",
            "name": "Maple syrup urine disease 1A",
            "description": "Maple syrup urine disease 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061203"
    ],
    "unlinked_id_list": []
}