{
    "disease_id": "DOID:0070271",
    "recommended_name": {
        "id": "DOID:0070271",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070271",
        "name": "Lynch syndrome 1",
        "description": "A Lynch syndrome that has_material_basis_in heterozygous mutations in the MSH2 gene on chromosome 2p21-p16."
    },
    "synonyms": [
        {
            "id": "DOID:0070271",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070271",
            "name": "FCC1",
            "description": ""
        },
        {
            "id": "DOID:0070271",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070271",
            "name": "HNPCC1",
            "description": ""
        },
        {
            "id": "DOID:0070271",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070271",
            "name": "familial nonpolyposis colon cancer type 1",
            "description": ""
        },
        {
            "id": "DOID:0070271",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070271",
            "name": "hereditary nonpolyposis colorectal cancer type 1",
            "description": ""
        },
        {
            "id": "DOID:0070271",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070271",
            "name": "COCA1",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "Lynch syndrome 1",
            "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MSH2 mismatch repair gene. It is characterized by an increased risk of colorectal cancer in the absense of extensive polyposis, endometrial, ovarian, gastric, small intestinal, and urinary tract cancers, often occuring at younger ages."
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "HNPCC1",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "Hereditary non-polyposis colon cancer type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "Lynch 1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "Lynch syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "Lynch syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "MSH2-related Lynch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "familial non-polyposis colon cancer type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "hereditary nonpolyposis colorectal cancer type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007356",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "name": "COCA1",
            "description": ""
        },
        {
            "id": "MIM:120435",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/120435",
            "name": "Lynch syndrome 1",
            "description": "Lynch syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070271"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070271",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070271",
            "categories": []
        },
        {
            "id": "MONDO:0007356",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007356",
            "categories": []
        },
        {
            "id": "MIM:120435",
            "database": "MIM",
            "url": "https://www.omim.org/entry/120435",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "0070271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                }
            ]
        },
        {
            "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": "120435",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/120435"
                },
                {
                    "id": "0070271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                }
            ]
        },
        {
            "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": "0070271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                }
            ]
        },
        {
            "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": "0070271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                }
            ]
        },
        {
            "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": "0070271",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070271"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070271"
}