{
    "disease_id": "DOID:0070276",
    "recommended_name": {
        "id": "DOID:0070276",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070276",
        "name": "hereditary nonpolyposis colorectal cancer type 7",
        "description": "A Lynch syndrome that has_material_basis_in mutation in the MLH3 gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070276",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070276",
            "name": "HNPCC7",
            "description": ""
        },
        {
            "id": "MONDO:0013725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013725",
            "name": "colorectal cancer, hereditary nonpolyposis, type 7",
            "description": "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene."
        },
        {
            "id": "MONDO:0013725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013725",
            "name": "MLH3 hereditary nonpolyposis colon cancer",
            "description": ""
        },
        {
            "id": "MONDO:0013725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013725",
            "name": "colorectal cancer, hereditary nonpolyposis, type 7",
            "description": ""
        },
        {
            "id": "MONDO:0013725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013725",
            "name": "hereditary nonpolyposis colon cancer caused by mutation in MLH3",
            "description": ""
        },
        {
            "id": "MONDO:0013725",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013725",
            "name": "HNPCC7",
            "description": ""
        },
        {
            "id": "MIM:614385",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614385",
            "name": "Hereditary non-polyposis colorectal cancer 7",
            "description": "Hereditary non-polyposis colorectal cancer 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070276"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070276",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070276",
            "categories": []
        },
        {
            "id": "MONDO:0013725",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013725",
            "categories": []
        },
        {
            "id": "MIM:614385",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614385",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2B931-1",
            "uniprot_ac": "A0A8M2B931",
            "uniprot_id": "A0A8M2B931_DANRE",
            "refseq_ac": "XP_005162267",
            "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 Mlh3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mlh3",
                    "type": "recommended"
                },
                {
                    "name": "mlh3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B931-1",
            "evidence": [
                {
                    "id": "0070276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A1Y7VMP7-1",
            "uniprot_ac": "A0A1Y7VMP7",
            "uniprot_id": "A0A1Y7VMP7_MOUSE",
            "refseq_ac": "XP_006515766",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "DNA mismatch repair protein Mlh3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "MutL homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlh3",
                    "type": "recommended"
                },
                {
                    "name": "Mlh3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A1Y7VMP7-1",
            "evidence": [
                {
                    "id": "0070276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHC1-1",
            "uniprot_ac": "Q9UHC1",
            "uniprot_id": "MLH3_HUMAN",
            "refseq_ac": "NP_001035197",
            "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 Mlh3",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein MLH3",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein Mlh3 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "MutL protein homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLH3",
                    "type": "recommended"
                },
                {
                    "name": "HNPCC7",
                    "type": "synonym"
                },
                {
                    "name": "MLH3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHC1-1",
            "evidence": [
                {
                    "id": "614385",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614385"
                },
                {
                    "id": "0070276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12083-1",
            "uniprot_ac": "Q12083",
            "uniprot_id": "MLH3_YEAST",
            "refseq_ac": "NP_015161",
            "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 MLH3",
                    "type": "recommended"
                },
                {
                    "name": "MutL protein homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair protein MLH3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MLH3",
                    "type": "recommended"
                },
                {
                    "name": "MLH3",
                    "type": "synonym"
                },
                {
                    "name": "P2550",
                    "type": "synonym"
                }
            ],
            "record_id": "Q12083-1",
            "evidence": [
                {
                    "id": "0070276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070276"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4ADG4-1",
            "uniprot_ac": "D4ADG4",
            "uniprot_id": "D4ADG4_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": "MutL homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mlh3",
                    "type": "recommended"
                }
            ],
            "record_id": "D4ADG4-1",
            "evidence": [
                {
                    "id": "0070276",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070276"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070276"
}
