{
    "disease_id": "DOID:0070274",
    "recommended_name": {
        "id": "DOID:0070274",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070274",
        "name": "hereditary nonpolyposis colorectal cancer type 2",
        "description": "A Lynch syndrome that has_material_basis_in heterozygous mutation in the MLH1 gene on chromosome 3p22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070274",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070274",
            "name": "COCA2",
            "description": ""
        },
        {
            "id": "DOID:0070274",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070274",
            "name": "FCC2",
            "description": ""
        },
        {
            "id": "DOID:0070274",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070274",
            "name": "HNPCC2",
            "description": ""
        },
        {
            "id": "DOID:0070274",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070274",
            "name": "familial nonpolyposis colon cancer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "Lynch syndrome 2",
            "description": "An autosomal dominant hereditary neoplastic syndrome caused by pathogenic variants in the MLH1 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 occurring at younger ages."
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "Hereditary non-polyposis colon cancer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "Hereditary nonpolyposis colorectal cancer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "Lynch 2 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "MLH1-related Lynch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "colorectal cancer, hereditary nonpolyposis, type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "familial non-polyposis colon cancer type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "COCA2",
            "description": ""
        },
        {
            "id": "MONDO:0012249",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "name": "HNPCC2",
            "description": ""
        },
        {
            "id": "MIM:609310",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609310",
            "name": "Lynch syndrome 2",
            "description": "Lynch syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070274"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070274",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070274",
            "categories": []
        },
        {
            "id": "MONDO:0012249",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012249",
            "categories": []
        },
        {
            "id": "MIM:609310",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609310",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AB13AAI6-1",
            "uniprot_ac": "A0AB13AAI6",
            "uniprot_id": "A0AB13AAI6_DANRE",
            "refseq_ac": "NP_001417993",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein MLH1",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Mlh1",
                    "type": "synonym"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mlh1",
                    "type": "recommended"
                },
                {
                    "name": "mlh1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:66301",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13AAI6-1",
            "evidence": [
                {
                    "id": "0070274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JK91-1",
            "uniprot_ac": "Q9JK91",
            "uniprot_id": "MLH1_MOUSE",
            "refseq_ac": "NP_001311451",
            "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 Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein MLH1",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Mlh1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "colon cancer, nonpolyposis type 2",
                    "type": "synonym"
                },
                {
                    "name": "mutL protein homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "1110035C23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Mlh1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JK91-1",
            "evidence": [
                {
                    "id": "0070274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P40692-1",
            "uniprot_ac": "P40692",
            "uniprot_id": "MLH1_HUMAN",
            "refseq_ac": "NP_000240",
            "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 Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein Mlh1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Mlh1",
                    "type": "synonym"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "mutL homolog 1, colon cancer, nonpolyposis type 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLH1",
                    "type": "recommended"
                },
                {
                    "name": "COCA2",
                    "type": "synonym"
                },
                {
                    "name": "FCC2",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC2",
                    "type": "synonym"
                },
                {
                    "name": "HNPCC",
                    "type": "synonym"
                },
                {
                    "name": "LYNCH2",
                    "type": "synonym"
                },
                {
                    "name": "MLH-1",
                    "type": "synonym"
                },
                {
                    "name": "MLH1",
                    "type": "synonym"
                },
                {
                    "name": "MMRCS1",
                    "type": "synonym"
                },
                {
                    "name": "hMLH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P40692-1",
            "evidence": [
                {
                    "id": "609310",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609310"
                },
                {
                    "id": "0070274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38920-1",
            "uniprot_ac": "P38920",
            "uniprot_id": "MLH1_YEAST",
            "refseq_ac": "NP_013890",
            "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 MLH1",
                    "type": "recommended"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Post meiotic segregation protein 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair ATPase MLH1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLH1",
                    "type": "recommended"
                },
                {
                    "name": "MLH1",
                    "type": "synonym"
                },
                {
                    "name": "PMS2",
                    "type": "synonym"
                },
                {
                    "name": "YM8520.16",
                    "type": "synonym"
                }
            ],
            "record_id": "P38920-1",
            "evidence": [
                {
                    "id": "0070274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97679-1",
            "uniprot_ac": "P97679",
            "uniprot_id": "MLH1_RAT",
            "refseq_ac": "",
            "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 Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "MutL protein homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlh1",
                    "type": "recommended"
                }
            ],
            "record_id": "P97679-1",
            "evidence": [
                {
                    "id": "0070274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070274"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z7C1-1",
            "uniprot_ac": "A1Z7C1",
            "uniprot_id": "A1Z7C1_DROME",
            "refseq_ac": "NP_477022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11482-PA",
                    "type": "synonym"
                },
                {
                    "name": "Mlh1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Mlh1-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlh1",
                    "type": "recommended"
                },
                {
                    "name": "CG11482",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11482",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11482",
                    "type": "synonym"
                },
                {
                    "name": "MLH1",
                    "type": "synonym"
                },
                {
                    "name": "Mlh1",
                    "type": "synonym"
                },
                {
                    "name": "dmlh-1",
                    "type": "synonym"
                },
                {
                    "name": "dmlh1",
                    "type": "synonym"
                },
                {
                    "name": "mlh1",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z7C1-1",
            "evidence": [
                {
                    "id": "0070274",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070274"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070274"
}