{
    "disease_id": "DOID:0112182",
    "recommended_name": {
        "id": "DOID:0112182",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0112182",
            "name": "BTP1 syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112182",
            "name": "BTPS1",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112182",
            "name": "CMMRDS",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112182",
            "name": "MMR deficiency",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112182",
            "name": "Turcot syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112182",
            "name": "CMMR-D syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112182",
            "name": "brain tumor-polyposis syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0112182",
            "name": "childhood cancer syndrome",
            "description": ""
        },
        {
            "id": "DOID:0112182",
            "resource": "Disease Ontology",
            "url": "http://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": "A rare childhood cancer predisposition syndrome caused by biallelic inheritance of mutations in MLH1, MSH2, MSH6, or PMS2 genes. It is characterized by the development of childhood cancers, usually hematological malignancies and/or brain tumors, and colorectal cancers with multiple intestinal polyps. The majority of patients show signs of neurofibromatosis type 1."
        },
        {
            "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": "CMMR-D",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "CMMR-D 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": "brain tumor-polyposis syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "constitutional MIS-match repair deficiency syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "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": ""
        },
        {
            "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": "MMR deficiency",
            "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": "Turcot syndrome",
            "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": "childhood cancer 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": "MONDO:0010159",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010159",
            "name": "mismatch repair deficiency",
            "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"
        }
    ]
}