{
    "disease_id": "DOID:0070272",
    "recommended_name": {
        "id": "DOID:0070272",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070272",
        "name": "hereditary nonpolyposis colorectal cancer type 5",
        "description": "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MSH6 gene on chromosome 2p16."
    },
    "synonyms": [
        {
            "id": "DOID:0070272",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070272",
            "name": "HNPCC5",
            "description": ""
        },
        {
            "id": "MONDO:0013710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013710",
            "name": "Lynch syndrome 5",
            "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH6 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, often occuring at younger ages."
        },
        {
            "id": "MONDO:0013710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013710",
            "name": "MSH6 hereditary nonpolyposis colon cancer",
            "description": ""
        },
        {
            "id": "MONDO:0013710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013710",
            "name": "MSH6-related Lynch Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013710",
            "name": "colorectal cancer, hereditary nonpolyposis, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013710",
            "name": "hereditary nonpolyposis colon cancer caused by mutation in MSH6",
            "description": ""
        },
        {
            "id": "MONDO:0013710",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013710",
            "name": "HNPCC5",
            "description": ""
        },
        {
            "id": "MIM:614350",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614350",
            "name": "Lynch syndrome 5",
            "description": "Lynch syndrome 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070272"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070272",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070272",
            "categories": []
        },
        {
            "id": "MONDO:0013710",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013710",
            "categories": []
        },
        {
            "id": "MIM:614350",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614350",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P54276-1",
            "uniprot_ac": "P54276",
            "uniprot_id": "MSH6_MOUSE",
            "refseq_ac": "NP_034960",
            "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 Msh6",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh6",
                    "type": "synonym"
                },
                {
                    "name": "G/T mismatch-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GTBP",
                    "type": "synonym"
                },
                {
                    "name": "GTMBP",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "MutS-alpha 160 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "g/T mismatch-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "mutS protein homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "mutS-alpha 160 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "p160",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh6",
                    "type": "recommended"
                },
                {
                    "name": "GTBP",
                    "type": "synonym"
                },
                {
                    "name": "Gtmbp",
                    "type": "synonym"
                },
                {
                    "name": "Msh6",
                    "type": "synonym"
                }
            ],
            "record_id": "P54276-1",
            "evidence": [
                {
                    "id": "0070272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P52701-1",
            "uniprot_ac": "P52701",
            "uniprot_id": "MSH6_HUMAN",
            "refseq_ac": "NP_000170",
            "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 Msh6",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Msh6 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Msh6",
                    "type": "synonym"
                },
                {
                    "name": "G/T mismatch-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "GTBP",
                    "type": "synonym"
                },
                {
                    "name": "GTMBP",
                    "type": "synonym"
                },
                {
                    "name": "MutS protein homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "MutS-alpha 160 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "hMSH6",
                    "type": "synonym"
                },
                {
                    "name": "mutS protein homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "mutS-alpha 160 kDa subunit",
                    "type": "synonym"
                },
                {
                    "name": "mutS-like protein 6",
                    "type": "synonym"
                },
                {
                    "name": "p160",
                    "type": "synonym"
                },
                {
                    "name": "sperm-associated protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH6",
                    "type": "recommended"
                },
                {
                    "name": "GTBP",
                    "type": "synonym"
                },
                {
                    "name": "GTMBP",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC5",
                    "type": "synonym"
                },
                {
                    "name": "HSAP",
                    "type": "synonym"
                },
                {
                    "name": "LYNCH5",
                    "type": "synonym"
                },
                {
                    "name": "MMRCS3",
                    "type": "synonym"
                },
                {
                    "name": "MSH-6",
                    "type": "synonym"
                },
                {
                    "name": "MSH6",
                    "type": "synonym"
                },
                {
                    "name": "p160",
                    "type": "synonym"
                }
            ],
            "record_id": "P52701-1",
            "evidence": [
                {
                    "id": "614350",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614350"
                },
                {
                    "id": "0070272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03834-1",
            "uniprot_ac": "Q03834",
            "uniprot_id": "MSH6_YEAST",
            "refseq_ac": "NP_010382",
            "glycoprotein": "yes",
            "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 MSH6",
                    "type": "recommended"
                },
                {
                    "name": "MutS protein homolog 6",
                    "type": "synonym"
                },
                {
                    "name": "Postmeiotic segregation protein 3",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair ATPase MSH6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MSH6",
                    "type": "recommended"
                },
                {
                    "name": "MSH6",
                    "type": "synonym"
                },
                {
                    "name": "PMS3",
                    "type": "synonym"
                },
                {
                    "name": "PMS6",
                    "type": "synonym"
                },
                {
                    "name": "YD8557.04C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03834-1",
            "evidence": [
                {
                    "id": "0070272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A0U9-1",
            "uniprot_ac": "D4A0U9",
            "uniprot_id": "D4A0U9_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh6",
                    "type": "recommended"
                }
            ],
            "record_id": "D4A0U9-1",
            "evidence": [
                {
                    "id": "0070272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070272"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUM0-1",
            "uniprot_ac": "Q9VUM0",
            "uniprot_id": "MSH6_DROME",
            "refseq_ac": "NP_648755",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable DNA mismatch repair protein Msh6",
                    "type": "recommended"
                },
                {
                    "name": "CG7003-PA",
                    "type": "synonym"
                },
                {
                    "name": "Msh6-PA",
                    "type": "synonym"
                },
                {
                    "name": "Msh6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msh6",
                    "type": "recommended"
                },
                {
                    "name": "CG7003",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7003",
                    "type": "synonym"
                },
                {
                    "name": "MSH6",
                    "type": "synonym"
                },
                {
                    "name": "Msh6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUM0-1",
            "evidence": [
                {
                    "id": "0070272",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070272"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070272"
}