{
    "disease_id": "DOID:0112182",
    "recommended_name": {
        "id": "DOID:0112182",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112182",
        "name": "mismatch repair cancer syndrome",
        "description": "A syndrome characterized by predisposition for development of a broad spectrum of malignancies during childhood, including mainly brain, hematological and gastrointestinal cancers that has_material_basis_in homozygous or compound heterozygous mutation in the mismatch repair genes MLH1, MSH2, MSH6, or PMS2 on chromosomes 3p22.2, 2p21-p16, 2p16.3, and 7p22.1, respectively."
    },
    "synonyms": [
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "BTP1 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "BTPS1",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "CMMR-D syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "CMMRDS",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "MMR deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "Turcot syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "brain tumor-polyposis syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "childhood cancer syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112182",
            "name": "constitutional mismatch repair deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "mismatch repair cancer syndrome 1",
            "description": "An autosomal recessive constitutional mismatch repair deficiency syndrome caused by pathogenic variants in the MLH1 mismatch repair gene. It is characterized by a high risk of childhood cancers, including hematological malignancies and brain tumors, as well as colorectal cancers with polyposis."
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "BTP1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "MLH1-related constitutional mismatch repair deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "MMRCS1",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "Turcot Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "brain tumor-polyposis syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "mismatch repair cancer syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "CNS tumors with familial polyposis of the colon",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "CNS tumours with familial polyposis of the colon",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "MMRCS",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "brain tumor-polyposis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "glioma-polyposis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "malignant tumors of the central nervous system associated with familial polyposis of the colon",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "malignant tumours of the central nervous system associated with familial polyposis of the colon",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "mismatch repair cancer syndrome",
            "description": ""
        },
        {
            "id": "MIM:276300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/276300",
            "name": "Mismatch repair cancer syndrome 1",
            "description": "Mismatch repair cancer syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112182"
    ],
    "unlinked_id_list": []
}