{
    "disease_id": "DOID:0070275",
    "recommended_name": {
        "id": "DOID:0070275",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070275",
        "name": "hereditary nonpolyposis colorectal cancer type 4",
        "description": "A Lynch syndrome that has_material_basis_in heterozygous mutation in the PMS2 gene on chromosome 7p22."
    },
    "synonyms": [
        {
            "id": "DOID:0070275",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070275",
            "name": "HNPCC4",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "Lynch syndrome 4",
            "description": "An autosomal dominant hereditary neoplastic caused by pathogenic variants in the PMS2 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."
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "PMS2 hereditary nonpolyposis colon cancer",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "PMS2-related Lynch syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "colorectal cancer, hereditary nonpolyposis, type 4",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "hereditary nonpolyposis colon cancer caused by mutation in PMS2",
            "description": ""
        },
        {
            "id": "MONDO:0013699",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "name": "HNPCC4",
            "description": ""
        },
        {
            "id": "MIM:614337",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614337",
            "name": "Lynch syndrome 4",
            "description": "Lynch syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070275"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070275",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070275",
            "categories": []
        },
        {
            "id": "MONDO:0013699",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013699",
            "categories": []
        },
        {
            "id": "MIM:614337",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614337",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58GXJ5-1",
            "uniprot_ac": "A0AC58GXJ5",
            "uniprot_id": "A0AC58GXJ5_DANRE",
            "refseq_ac": "XP_073774451",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mismatch repair endonuclease PMS2",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein PMS2",
                    "type": "synonym"
                },
                {
                    "name": "PMS1 protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair endonuclease PMS2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pms2",
                    "type": "recommended"
                },
                {
                    "name": "pms2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58GXJ5-1",
            "evidence": [
                {
                    "id": "0070275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54279-1",
            "uniprot_ac": "P54279",
            "uniprot_id": "PMS2_MOUSE",
            "refseq_ac": "NP_032912",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mismatch repair endonuclease PMS2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein PMS2",
                    "type": "synonym"
                },
                {
                    "name": "PMS1 protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair endonuclease PMS2",
                    "type": "synonym"
                },
                {
                    "name": "postmeiotic segregation increased 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pms2",
                    "type": "recommended"
                },
                {
                    "name": "Pms2",
                    "type": "synonym"
                },
                {
                    "name": "Pmsl2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54279-1",
            "evidence": [
                {
                    "id": "0070275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54278-1",
            "uniprot_ac": "P54278",
            "uniprot_id": "PMS2_HUMAN",
            "refseq_ac": "NP_001308936",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mismatch repair endonuclease PMS2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.-.-",
                    "type": "synonym"
                },
                {
                    "name": "DNA mismatch repair protein PMS2",
                    "type": "synonym"
                },
                {
                    "name": "PMS1 homolog 2, mismatch repair protein",
                    "type": "synonym"
                },
                {
                    "name": "PMS1 protein homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "PMS2 postmeiotic segregation increased 2",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair endonuclease PMS2 isoform d",
                    "type": "synonym"
                },
                {
                    "name": "mismatch repair endonuclease PMS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMS2",
                    "type": "recommended"
                },
                {
                    "name": "HNPCC4",
                    "type": "synonym"
                },
                {
                    "name": "LYNCH4",
                    "type": "synonym"
                },
                {
                    "name": "MLH4",
                    "type": "synonym"
                },
                {
                    "name": "MMRCS4",
                    "type": "synonym"
                },
                {
                    "name": "PMS-2",
                    "type": "synonym"
                },
                {
                    "name": "PMS2",
                    "type": "synonym"
                },
                {
                    "name": "PMSL2",
                    "type": "synonym"
                }
            ],
            "record_id": "P54278-1",
            "evidence": [
                {
                    "id": "614337",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614337"
                },
                {
                    "id": "0070275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P14242-1",
            "uniprot_ac": "P14242",
            "uniprot_id": "PMS1_YEAST",
            "refseq_ac": "NP_014317",
            "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 PMS1",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding mismatch repair protein",
                    "type": "synonym"
                },
                {
                    "name": "Postmeiotic segregation protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PMS1",
                    "type": "recommended"
                },
                {
                    "name": "N2317",
                    "type": "synonym"
                },
                {
                    "name": "PMS1",
                    "type": "synonym"
                }
            ],
            "record_id": "P14242-1",
            "evidence": [
                {
                    "id": "0070275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2JW47-1",
            "uniprot_ac": "A0A0G2JW47",
            "uniprot_id": "A0A0G2JW47_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": "Mismatch repair endonuclease PMS2",
                    "type": "recommended"
                },
                {
                    "name": "DNA mismatch repair protein PMS2",
                    "type": "synonym"
                },
                {
                    "name": "PMS1 protein homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pms2",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A0G2JW47-1",
            "evidence": [
                {
                    "id": "0070275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070275"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZA03-1",
            "uniprot_ac": "A1ZA03",
            "uniprot_id": "A1ZA03_DROME",
            "refseq_ac": "NP_477023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8169-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pms2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Pms2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pms2",
                    "type": "recommended"
                },
                {
                    "name": "CG8169",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8169",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8169",
                    "type": "synonym"
                },
                {
                    "name": "Mlh2",
                    "type": "synonym"
                },
                {
                    "name": "PMS2",
                    "type": "synonym"
                },
                {
                    "name": "Pms2",
                    "type": "synonym"
                },
                {
                    "name": "dmlh-2",
                    "type": "synonym"
                },
                {
                    "name": "dmlh2",
                    "type": "synonym"
                },
                {
                    "name": "dpms2",
                    "type": "synonym"
                },
                {
                    "name": "pms2",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZA03-1",
            "evidence": [
                {
                    "id": "0070275",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070275"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070275"
}