{
    "disease_id": "DOID:0111504",
    "recommended_name": {
        "id": "DOID:0111504",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111504",
        "name": "Li-Fraumeni syndrome 2",
        "description": "A Li-Fraumeni syndrome that has_material_basis_in heterozygous mutation in the CHEK2 gene on chromosome 22q12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111504",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111504",
            "name": "LFS2",
            "description": ""
        },
        {
            "id": "DOID:0111504",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111504",
            "name": "tumor predisposition syndrome 4",
            "description": ""
        },
        {
            "id": "MONDO:0012233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012233",
            "name": "obsolete Li-Fraumeni syndrome 2",
            "description": "OBSOLETE. Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene."
        },
        {
            "id": "MONDO:0012233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012233",
            "name": "CHEK2 Li-Fraumeni syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012233",
            "name": "Li-Fraumeni syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012233",
            "name": "Li-Fraumeni syndrome caused by mutation in CHEK2",
            "description": ""
        },
        {
            "id": "MONDO:0012233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012233",
            "name": "Li-Fraumeni syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012233",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012233",
            "name": "LFS2",
            "description": ""
        },
        {
            "id": "MIM:609265",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609265",
            "name": "Tumor predisposition syndrome 4",
            "description": "Tumor predisposition syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111504"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111504",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111504",
            "categories": []
        },
        {
            "id": "MONDO:0012233",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012233",
            "categories": []
        },
        {
            "id": "MIM:609265",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609265",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M2BC68-1",
            "uniprot_ac": "A0A8M2BC68",
            "uniprot_id": "A0A8M2BC68_DANRE",
            "refseq_ac": "XP_073806015",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Chk2 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Chk2 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "chek2",
                    "type": "recommended"
                },
                {
                    "name": "chek2",
                    "type": "synonym"
                },
                {
                    "name": "fa66f08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa66f08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55865",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BC68-1",
            "evidence": [
                {
                    "id": "0111504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Z265-1",
            "uniprot_ac": "Q9Z265",
            "uniprot_id": "CHK2_MOUSE",
            "refseq_ac": "NP_057890",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Chk2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CHK2 checkpoint homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cds1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Checkpoint kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Rad53 homolog",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Chk2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Chk2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Chek2",
                    "type": "recommended"
                },
                {
                    "name": "CHK2",
                    "type": "synonym"
                },
                {
                    "name": "Cds1",
                    "type": "synonym"
                },
                {
                    "name": "Chek2",
                    "type": "synonym"
                },
                {
                    "name": "Chk2",
                    "type": "synonym"
                },
                {
                    "name": "HUCDS1",
                    "type": "synonym"
                },
                {
                    "name": "Rad53",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Z265-1",
            "evidence": [
                {
                    "id": "0111504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O96017-1",
            "uniprot_ac": "O96017",
            "uniprot_id": "CHK2_HUMAN",
            "refseq_ac": "NP_001005735",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase Chk2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CHK2 checkpoint homolog",
                    "type": "synonym"
                },
                {
                    "name": "Cds1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Checkpoint kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Hucds1",
                    "type": "synonym"
                },
                {
                    "name": "cds1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "checkpoint-like protein CHK2",
                    "type": "synonym"
                },
                {
                    "name": "hCds1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase CHK2",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase Chk2 isoform c",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CHEK2",
                    "type": "recommended"
                },
                {
                    "name": "CDS1",
                    "type": "synonym"
                },
                {
                    "name": "CHEK2",
                    "type": "synonym"
                },
                {
                    "name": "CHK2",
                    "type": "synonym"
                },
                {
                    "name": "HuCds1",
                    "type": "synonym"
                },
                {
                    "name": "LFS2",
                    "type": "synonym"
                },
                {
                    "name": "PP1425",
                    "type": "synonym"
                },
                {
                    "name": "RAD53",
                    "type": "synonym"
                },
                {
                    "name": "TPDS4",
                    "type": "synonym"
                },
                {
                    "name": "hCds1",
                    "type": "synonym"
                }
            ],
            "record_id": "O96017-1",
            "evidence": [
                {
                    "id": "609265",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/609265"
                },
                {
                    "id": "0111504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39009-1",
            "uniprot_ac": "P39009",
            "uniprot_id": "DUN1_YEAST",
            "refseq_ac": "NP_010182",
            "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 damage response protein kinase DUN1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine protein kinase DUN1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DUN1",
                    "type": "recommended"
                },
                {
                    "name": "D2370",
                    "type": "synonym"
                },
                {
                    "name": "DUN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P39009-1",
            "evidence": [
                {
                    "id": "0111504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111504"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O61267-1",
            "uniprot_ac": "O61267",
            "uniprot_id": "LOK_DROME",
            "refseq_ac": "NP_477218",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ovarian-specific serine/threonine-protein kinase Lok",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG10895-PB",
                    "type": "synonym"
                },
                {
                    "name": "Protein loki",
                    "type": "synonym"
                },
                {
                    "name": "checkpoint kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "dMNK",
                    "type": "synonym"
                },
                {
                    "name": "drosophila maternal nuclear kinase",
                    "type": "synonym"
                },
                {
                    "name": "localized ovarian kinase",
                    "type": "synonym"
                },
                {
                    "name": "lok-PB",
                    "type": "synonym"
                },
                {
                    "name": "loki, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "lok",
                    "type": "recommended"
                },
                {
                    "name": "10895",
                    "type": "synonym"
                },
                {
                    "name": "38B.4",
                    "type": "synonym"
                },
                {
                    "name": "CG10895",
                    "type": "synonym"
                },
                {
                    "name": "CHK-2",
                    "type": "synonym"
                },
                {
                    "name": "CHK2",
                    "type": "synonym"
                },
                {
                    "name": "Chk2",
                    "type": "synonym"
                },
                {
                    "name": "DChk2",
                    "type": "synonym"
                },
                {
                    "name": "DmCHk2",
                    "type": "synonym"
                },
                {
                    "name": "DmChk2",
                    "type": "synonym"
                },
                {
                    "name": "Dmchk2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10895",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10895",
                    "type": "synonym"
                },
                {
                    "name": "Dmnk-L",
                    "type": "synonym"
                },
                {
                    "name": "Dmnk-S",
                    "type": "synonym"
                },
                {
                    "name": "Dmnk/DChk2",
                    "type": "synonym"
                },
                {
                    "name": "Dmnk",
                    "type": "synonym"
                },
                {
                    "name": "LOKI/CHK2",
                    "type": "synonym"
                },
                {
                    "name": "Loki",
                    "type": "synonym"
                },
                {
                    "name": "Lok",
                    "type": "synonym"
                },
                {
                    "name": "MNK",
                    "type": "synonym"
                },
                {
                    "name": "Mnk",
                    "type": "synonym"
                },
                {
                    "name": "chk-2",
                    "type": "synonym"
                },
                {
                    "name": "chk2/lok",
                    "type": "synonym"
                },
                {
                    "name": "chk2",
                    "type": "synonym"
                },
                {
                    "name": "chk",
                    "type": "synonym"
                },
                {
                    "name": "loki",
                    "type": "synonym"
                },
                {
                    "name": "lok",
                    "type": "synonym"
                },
                {
                    "name": "mnk",
                    "type": "synonym"
                }
            ],
            "record_id": "O61267-1",
            "evidence": [
                {
                    "id": "0111504",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111504"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111504"
}