{
    "disease_id": "DOID:0070270", 
    "synonyms": [
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013196", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013196", 
            "name": "colorectal cancer, hereditary nonpolyposis, type 8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013196", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013196", 
            "name": "EPCAM hereditary nonpolyposis colon cancer"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013196", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013196", 
            "name": "colorectal cancer, hereditary nonpolyposis, type 8; HNPCC8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013196", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013196", 
            "name": "HNPCC8"
        }, 
        {
            "url": "https://monarchinitiative.org/disease/MONDO:0013196", 
            "description": "", 
            "resource": "MONDO", 
            "id": "MONDO:0013196", 
            "name": "hereditary nonpolyposis colon cancer caused by mutation in EPCAM"
        }, 
        {
            "url": "http://disease-ontology.org/term/DOID:0070270", 
            "description": "", 
            "resource": "Disease Ontology", 
            "id": "DOID:0070270", 
            "name": "HNPCC8"
        }
    ], 
    "recommended_name": {
        "url": "http://disease-ontology.org/term/DOID:0070270", 
        "description": "A Lynch syndrome that has_material_basis_in heterozygous deletion of the 3' part of the EPCAM gene and intergenic regions adjacent to the MSH2 gene on chromosome 2p21. This results in transcriptional read-through and silencing of MSH2 in tissues expressing EPCAM.", 
        "resource": "Disease Ontology", 
        "id": "DOID:0070270", 
        "name": "hereditary nonpolyposis colorectal cancer type 8"
    }, 
    "evidence": [
        {
            "url": "https://www.alliancegenome.org/gene/0070270#disease-associations", 
            "id": "0070270", 
            "database": "Alliance of Genome Resources"
        }
    ]
}
