{
    "disease_id": "DOID:0070275",
    "recommended_name": {
        "id": "DOID:0070275",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0070275",
        "name": "hereditary nonpolyposis colorectal cancer type 4",
        "description": "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22."
    },
    "synonyms": [
        {
            "id": "DOID:0070275",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070275",
            "name": "HNPCC4",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "Lynch syndrome 4",
            "description": "An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absence of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers."
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "PMS2 hereditary nonpolyposis colon cancer",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "PMS2-related Lynch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "colorectal cancer, hereditary nonpolyposis, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "hereditary nonpolyposis colon cancer caused by mutation in PMS2",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "HNPCC4",
            "description": ""
        },
        {
            "id": "MIM:614337",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614337",
            "name": "Lynch syndrome 4",
            "description": "Lynch syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070275"
    ],
    "unlinked_id_list": []
}