{
    "disease_id": "DOID:0070274",
    "recommended_name": {
        "id": "DOID:0070274",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070274",
        "name": "hereditary nonpolyposis colorectal cancer type 2",
        "description": "A Lynch syndrome that has_material_basis_in mutations in the MLH1 gene on chromosome 3p22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070274",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070274",
            "name": "COCA2",
            "description": ""
        },
        {
            "id": "DOID:0070274",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070274",
            "name": "FCC2",
            "description": ""
        },
        {
            "id": "DOID:0070274",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070274",
            "name": "HNPCC2",
            "description": ""
        },
        {
            "id": "DOID:0070274",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070274",
            "name": "familial nonpolyposis colon cancer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "colorectal cancer, hereditary nonpolyposis, type 2",
            "description": "A rare genetic neoplastic syndrome with an autosomal dominant pattern of inheritance but incomplete penetrance. It is associated with an inherited risk for malignancy, in particular, colorectal, endometrial or gastric carcinoma. It is caused by mutations in one of the mismatch repair genes: MSH2, MLH1, MSH6 or PMS2. It usually manifests at age 50 or younger with multiple synchronous or metachronous proximal colonic or extracolonic cancers. Clinical course is rapidly progressive. Prognosis is variable with high risk for development of gastrointestinal, reproductive or urinary tract cancer. However, survival is significantly better than non-HNPCC carcinomas of equivalent stage."
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "Hereditary non-polyposis colon cancer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "colorectal cancer, hereditary nonpolyposis, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "colorectal cancer, hereditary nonpolyposis, type 2; HNPCC2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "HNPCC2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "colon cancer, familial nonpolyposis, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "Hereditary nonpolyposis colorectal cancer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "familial non-polyposis colon cancer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "Lynch 2 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "COCA2",
            "description": ""
        },
        {
            "id": "MIM:609310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609310",
            "name": "Hereditary non-polyposis colorectal cancer 2",
            "description": "Hereditary non-polyposis colorectal cancer 2"
        }
    ]
}