{
    "disease_id": "DOID:0070270",
    "recommended_name": {
        "id": "DOID:0070270",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070270",
        "name": "hereditary nonpolyposis colorectal cancer type 8",
        "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."
    },
    "synonyms": [
        {
            "id": "DOID:0070270",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070270",
            "name": "HNPCC8",
            "description": ""
        },
        {
            "id": "MONDO:0013196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013196",
            "name": "Lynch syndrome 8",
            "description": "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a  heterozygous deletion of 3-prime exons of the EPCAM gene and intergenic regions directly upstream of the MSH2 gene, resulting in transcriptional read-through and epigenetic silencing of MSH2 in tissues expressing EPCAM."
        },
        {
            "id": "MONDO:0013196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013196",
            "name": "EPCAM hereditary nonpolyposis colon cancer",
            "description": ""
        },
        {
            "id": "MONDO:0013196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013196",
            "name": "colorectal cancer, hereditary nonpolyposis, type 8",
            "description": ""
        },
        {
            "id": "MONDO:0013196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013196",
            "name": "hereditary nonpolyposis colon cancer caused by mutation in EPCAM",
            "description": ""
        },
        {
            "id": "MONDO:0013196",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013196",
            "name": "HNPCC8",
            "description": ""
        },
        {
            "id": "MIM:613244",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613244",
            "name": "Lynch syndrome 8",
            "description": "Lynch syndrome 8"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070270"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070270",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070270",
            "categories": []
        },
        {
            "id": "MONDO:0013196",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013196",
            "categories": []
        },
        {
            "id": "MIM:613244",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613244",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99JW5-1",
            "uniprot_ac": "Q99JW5",
            "uniprot_id": "EPCAM_MOUSE",
            "refseq_ac": "NP_032558",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "EGP314",
                    "type": "synonym"
                },
                {
                    "name": "Ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "Protein 289A",
                    "type": "synonym"
                },
                {
                    "name": "Trop-1 protein",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cell adhesion molecule precursor",
                    "type": "synonym"
                },
                {
                    "name": "epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "lymphocyte antigen 74",
                    "type": "synonym"
                },
                {
                    "name": "mEGP314",
                    "type": "synonym"
                },
                {
                    "name": "panepithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "protein 289A",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epcam",
                    "type": "recommended"
                },
                {
                    "name": "CD326",
                    "type": "synonym"
                },
                {
                    "name": "EGP-2",
                    "type": "synonym"
                },
                {
                    "name": "EGP",
                    "type": "synonym"
                },
                {
                    "name": "Egp314",
                    "type": "synonym"
                },
                {
                    "name": "Ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "EpCAM1",
                    "type": "synonym"
                },
                {
                    "name": "Epcam",
                    "type": "synonym"
                },
                {
                    "name": "GA733-2",
                    "type": "synonym"
                },
                {
                    "name": "Ly74",
                    "type": "synonym"
                },
                {
                    "name": "TROP1",
                    "type": "synonym"
                },
                {
                    "name": "Tacsd1",
                    "type": "synonym"
                },
                {
                    "name": "Tacstd1",
                    "type": "synonym"
                },
                {
                    "name": "gp40",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99JW5-1",
            "evidence": [
                {
                    "id": "0070270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43247-1",
            "uniprot_ac": "P43247",
            "uniprot_id": "MSH2_MOUSE",
            "refseq_ac": "NP_032654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mutS protein homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh2",
                    "type": "recommended"
                },
                {
                    "name": "Msh2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43247-1",
            "evidence": [
                {
                    "id": "0070270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16422-1",
            "uniprot_ac": "P16422",
            "uniprot_id": "EPCAM_HUMAN",
            "refseq_ac": "NP_002345",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "Adenocarcinoma-associated antigen",
                    "type": "synonym"
                },
                {
                    "name": "Cell surface glycoprotein Trop-1",
                    "type": "synonym"
                },
                {
                    "name": "EGP314",
                    "type": "synonym"
                },
                {
                    "name": "EGP",
                    "type": "synonym"
                },
                {
                    "name": "Ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial cell surface antigen",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial glycoprotein",
                    "type": "synonym"
                },
                {
                    "name": "KS 1/4 antigen",
                    "type": "synonym"
                },
                {
                    "name": "KSA",
                    "type": "synonym"
                },
                {
                    "name": "Major gastrointestinal tumor-associated protein GA733-2",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "adenocarcinoma-associated antigen",
                    "type": "synonym"
                },
                {
                    "name": "cell surface glycoprotein Trop-1",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cell adhesion molecule precursor",
                    "type": "synonym"
                },
                {
                    "name": "epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "hEGP314",
                    "type": "synonym"
                },
                {
                    "name": "human epithelial glycoprotein-2",
                    "type": "synonym"
                },
                {
                    "name": "major gastrointestinal tumor-associated protein GA733-2",
                    "type": "synonym"
                },
                {
                    "name": "membrane component, chromosome 4, surface marker (35kD glycoprotein)",
                    "type": "synonym"
                },
                {
                    "name": "trophoblast cell surface antigen 1",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EPCAM",
                    "type": "recommended"
                },
                {
                    "name": "Ber-Ep4",
                    "type": "synonym"
                },
                {
                    "name": "BerEp4",
                    "type": "synonym"
                },
                {
                    "name": "DIAR5",
                    "type": "synonym"
                },
                {
                    "name": "EGP-2",
                    "type": "synonym"
                },
                {
                    "name": "EGP314",
                    "type": "synonym"
                },
                {
                    "name": "EGP40",
                    "type": "synonym"
                },
                {
                    "name": "EPCAM",
                    "type": "synonym"
                },
                {
                    "name": "ESA",
                    "type": "synonym"
                },
                {
                    "name": "GA733-2",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC8",
                    "type": "synonym"
                },
                {
                    "name": "KS1/4",
                    "type": "synonym"
                },
                {
                    "name": "KSA",
                    "type": "synonym"
                },
                {
                    "name": "LYNCH8",
                    "type": "synonym"
                },
                {
                    "name": "M1S2",
                    "type": "synonym"
                },
                {
                    "name": "M4S1",
                    "type": "synonym"
                },
                {
                    "name": "MIC18",
                    "type": "synonym"
                },
                {
                    "name": "MK-1",
                    "type": "synonym"
                },
                {
                    "name": "MOC-31",
                    "type": "synonym"
                },
                {
                    "name": "TACSTD1",
                    "type": "synonym"
                },
                {
                    "name": "TROP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P16422-1",
            "evidence": [
                {
                    "id": "613244",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613244"
                },
                {
                    "id": "0070270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25847-1",
            "uniprot_ac": "P25847",
            "uniprot_id": "MSH2_YEAST",
            "refseq_ac": "NP_014551",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein MSH2",
                    "type": "recommended"
                },
                {
                    "name": "MutS protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair ATPase MSH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH2",
                    "type": "recommended"
                },
                {
                    "name": "MSH2",
                    "type": "synonym"
                },
                {
                    "name": "O0935",
                    "type": "synonym"
                },
                {
                    "name": "PMS5",
                    "type": "synonym"
                }
            ],
            "record_id": "P25847-1",
            "evidence": [
                {
                    "id": "0070270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55159-1",
            "uniprot_ac": "O55159",
            "uniprot_id": "EPCAM_RAT",
            "refseq_ac": "NP_612550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Epithelial cell adhesion molecule",
                    "type": "recommended"
                },
                {
                    "name": "EGP314",
                    "type": "synonym"
                },
                {
                    "name": "Ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "Epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "Protein D5.7A",
                    "type": "synonym"
                },
                {
                    "name": "Tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                },
                {
                    "name": "ep-CAM",
                    "type": "synonym"
                },
                {
                    "name": "epithelial cell adhesion molecule precursor",
                    "type": "synonym"
                },
                {
                    "name": "epithelial glycoprotein 314",
                    "type": "synonym"
                },
                {
                    "name": "tumor-associated calcium signal transducer 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Epcam",
                    "type": "recommended"
                },
                {
                    "name": "Egp314",
                    "type": "synonym"
                },
                {
                    "name": "Epcam",
                    "type": "synonym"
                },
                {
                    "name": "Tacstd1",
                    "type": "synonym"
                }
            ],
            "record_id": "O55159-1",
            "evidence": [
                {
                    "id": "0070270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54275-1",
            "uniprot_ac": "P54275",
            "uniprot_id": "MSH2_RAT",
            "refseq_ac": "NP_112320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair protein",
                    "type": "synonym"
                },
                {
                    "name": "mutS protein homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh2",
                    "type": "recommended"
                },
                {
                    "name": "Msh2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54275-1",
            "evidence": [
                {
                    "id": "0070270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43248-1",
            "uniprot_ac": "P43248",
            "uniprot_id": "MSH2_DROME",
            "refseq_ac": "NP_001014482",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein spellchecker 1",
                    "type": "recommended"
                },
                {
                    "name": "CG4215-PE",
                    "type": "synonym"
                },
                {
                    "name": "spel1-PE",
                    "type": "synonym"
                },
                {
                    "name": "spellchecker 1",
                    "type": "synonym"
                },
                {
                    "name": "spellchecker1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "spellchecker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "spel1",
                    "type": "recommended"
                },
                {
                    "name": "BG:DS01068.9",
                    "type": "synonym"
                },
                {
                    "name": "CG4215",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4215",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4215",
                    "type": "synonym"
                },
                {
                    "name": "Msh2",
                    "type": "synonym"
                },
                {
                    "name": "SPEL1",
                    "type": "synonym"
                },
                {
                    "name": "spel-1",
                    "type": "synonym"
                },
                {
                    "name": "spel1",
                    "type": "synonym"
                },
                {
                    "name": "spel",
                    "type": "synonym"
                }
            ],
            "record_id": "P43248-1",
            "evidence": [
                {
                    "id": "0070270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070270"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43246-1",
            "uniprot_ac": "P43246",
            "uniprot_id": "MSH2_HUMAN",
            "refseq_ac": "NP_000242",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Msh2",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Msh2 transcript",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "MutS-like 2",
                    "type": "synonym"
                },
                {
                    "name": "hMSH2",
                    "type": "synonym"
                },
                {
                    "name": "mutS homolog 2, colon cancer, nonpolyposis type 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH2",
                    "type": "recommended"
                },
                {
                    "name": "COCA1",
                    "type": "synonym"
                },
                {
                    "name": "FCC1",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC1",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC",
                    "type": "synonym"
                },
                {
                    "name": "LCFS2",
                    "type": "synonym"
                },
                {
                    "name": "LYNCH1",
                    "type": "synonym"
                },
                {
                    "name": "MMRCS2",
                    "type": "synonym"
                },
                {
                    "name": "MSH-2",
                    "type": "synonym"
                },
                {
                    "name": "MSH2",
                    "type": "synonym"
                },
                {
                    "name": "hMSH2",
                    "type": "synonym"
                }
            ],
            "record_id": "P43246-1",
            "evidence": [
                {
                    "id": "0070270",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070270"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070270"
}