{
    "disease_id": "DOID:0111503",
    "recommended_name": {
        "id": "DOID:0111503",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111503",
        "name": "Li-Fraumeni syndrome 1",
        "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the TP53 gene on chromosome 17p13.1."
    },
    "synonyms": [
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            "resource": "Disease Ontology",
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            "name": "Li-Fraumeni syndrome",
            "description": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias."
        },
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            "description": ""
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            "description": ""
        },
        {
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            "description": ""
        },
        {
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        },
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            "name": "TP53 Li-Fraumeni syndrome",
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        },
        {
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            "name": "TP53-related Li-Fraumeni syndrome",
            "description": ""
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        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0018875",
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            "description": ""
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        {
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        {
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        {
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            "description": ""
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        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0018875",
            "name": "Li-Fraumeni syndrome",
            "description": "An autosomal dominant cancer predisposition disorder caused by pathogenic variants in the TP53 gene, characterized by an increased risk of a wide range of cancers, including but not limited to breast cancer, soft tissue sarcomas, osteosarcomas, brain tumors, adrenocortical carcinoma and leukemias."
        },
        {
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        {
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        {
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            "name": "Li-Fraumeni syndrome caused by mutation in TP53",
            "description": ""
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            "description": ""
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            "description": ""
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        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0018875",
            "name": "sarcoma, breast, leukemia and adrenal gland syndrome",
            "description": ""
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        {
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            "name": "LFS1",
            "description": ""
        },
        {
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        {
            "id": "MONDO:0018875",
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            "url": "https://monarchinitiative.org/disease/MONDO:0018875",
            "name": "SBLA syndrome (sarcoma, breast, leukemia, and adrenal gland)",
            "description": ""
        },
        {
            "id": "MONDO:0018875",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0018875",
            "name": "sarcoma family syndrome of Li and Fraumeni",
            "description": ""
        },
        {
            "id": "MIM:151623",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/151623",
            "name": "Li-Fraumeni syndrome",
            "description": "Li-Fraumeni syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111503"
    ],
    "unlinked_id_list": []
}