{
    "disease_id": "DOID:0061206",
    "recommended_name": {
        "id": "DOID:0061206",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061206",
        "name": "maple syrup urine disease type IB",
        "description": "A maple syrup urine disease that is characterized by mental and physical retardation, feeding problems, and a maple syrup odor to the urine and that has_material_basis_in homozygous or compound heterozygous mutation in the BCKDHB gene, which encodes a subunit of the branched-chain alpha-keto acid dehydrogenase complex (BCKDC), on chromosome 6q14."
    },
    "synonyms": [
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "maple syrup urine disease type 1B",
            "description": "A maple syrup urine disease caused by mutations in BCKDHB."
        },
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "maple syrup urine disease type 1B",
            "description": ""
        },
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "MSUD due to deficiency of E1-beta subunit of branched-chain alpha-keto acid dehydrogenase complex",
            "description": ""
        },
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "MSUD type 3 (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0023692",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0023692",
            "name": "MSUD type IB",
            "description": ""
        },
        {
            "id": "MIM:620698",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620698",
            "name": "Maple syrup urine disease 1B",
            "description": "Maple syrup urine disease 1B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0061206"
    ],
    "unlinked_id_list": []
}