{
    "disease_id": "DOID:0111462",
    "recommended_name": {
        "id": "DOID:0111462",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111462",
        "name": "cardiofaciocutaneous syndrome 3",
        "description": "A cardiofaciocutaneous syndrome that has_material_basis_in heterozygous mutation in the MAP2K1 gene on chromosome 15q22.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111462",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111462",
            "name": "CFC3",
            "description": ""
        },
        {
            "id": "MONDO:0014113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014113",
            "name": "cardiofaciocutaneous syndrome 3",
            "description": "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene."
        },
        {
            "id": "MONDO:0014113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014113",
            "name": "MAP2K1 cardiofaciocutaneous syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014113",
            "name": "cardiofaciocutaneous syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0014113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014113",
            "name": "cardiofaciocutaneous syndrome caused by mutation in MAP2K1",
            "description": ""
        },
        {
            "id": "MONDO:0014113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014113",
            "name": "cardiofaciocutaneous syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0014113",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014113",
            "name": "CFC3",
            "description": ""
        },
        {
            "id": "MIM:615279",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615279",
            "name": "Cardiofaciocutaneous syndrome 3",
            "description": "Cardiofaciocutaneous syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111462"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111462",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111462",
            "categories": []
        },
        {
            "id": "MONDO:0014113",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014113",
            "categories": []
        },
        {
            "id": "MIM:615279",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615279",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P31938-1",
            "uniprot_ac": "P31938",
            "uniprot_id": "MP2K1_MOUSE",
            "refseq_ac": "NP_032953",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity mitogen-activated protein kinase kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.2",
                    "type": "synonym"
                },
                {
                    "name": "ERK activator kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAPK/ERK kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAPKK 1",
                    "type": "synonym"
                },
                {
                    "name": "MEK 1",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity mitogen-activated protein kinase kinase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity mitogen-activated protein kinase kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, mitogen activated, kinase 1, p45",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map2k1",
                    "type": "recommended"
                },
                {
                    "name": "MAPKK1",
                    "type": "synonym"
                },
                {
                    "name": "MEKK1",
                    "type": "synonym"
                },
                {
                    "name": "Map2k1",
                    "type": "synonym"
                },
                {
                    "name": "Mek1",
                    "type": "synonym"
                },
                {
                    "name": "Prkmk1",
                    "type": "synonym"
                }
            ],
            "record_id": "P31938-1",
            "evidence": [
                {
                    "id": "0111462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02750-1",
            "uniprot_ac": "Q02750",
            "uniprot_id": "MP2K1_HUMAN",
            "refseq_ac": "NP_002746",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity mitogen-activated protein kinase kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.2",
                    "type": "synonym"
                },
                {
                    "name": "ERK activator kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAPK/ERK kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAPKK 1",
                    "type": "synonym"
                },
                {
                    "name": "MEK 1",
                    "type": "synonym"
                },
                {
                    "name": "MKK1",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity mitogen-activated protein kinase kinase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity mitogen-activated protein kinase kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase, mitogen-activated, kinase 1 (MAP kinase kinase 1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAP2K1",
                    "type": "recommended"
                },
                {
                    "name": "CFC3",
                    "type": "synonym"
                },
                {
                    "name": "MAP2K1",
                    "type": "synonym"
                },
                {
                    "name": "MAPKK1",
                    "type": "synonym"
                },
                {
                    "name": "MEK1",
                    "type": "synonym"
                },
                {
                    "name": "MEL",
                    "type": "synonym"
                },
                {
                    "name": "MKK1",
                    "type": "synonym"
                },
                {
                    "name": "PRKMK1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02750-1",
            "evidence": [
                {
                    "id": "615279",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615279"
                },
                {
                    "id": "0111462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06784-1",
            "uniprot_ac": "P06784",
            "uniprot_id": "STE7_YEAST",
            "refseq_ac": "NP_010122",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase STE7",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.2",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase STE7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "STE7",
                    "type": "recommended"
                },
                {
                    "name": "D1525",
                    "type": "synonym"
                },
                {
                    "name": "STE7",
                    "type": "synonym"
                }
            ],
            "record_id": "P06784-1",
            "evidence": [
                {
                    "id": "0111462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08018-1",
            "uniprot_ac": "P08018",
            "uniprot_id": "PBS2_YEAST",
            "refseq_ac": "NP_012407",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "MAP kinase kinase PBS2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.2",
                    "type": "synonym"
                },
                {
                    "name": "Polymyxin B resistance protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor of fluoride sensitivity 4",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase PBS2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PBS2",
                    "type": "recommended"
                },
                {
                    "name": "HOG4",
                    "type": "synonym"
                },
                {
                    "name": "J0699",
                    "type": "synonym"
                },
                {
                    "name": "PBS2",
                    "type": "synonym"
                },
                {
                    "name": "SFS4",
                    "type": "synonym"
                },
                {
                    "name": "SSK4",
                    "type": "synonym"
                }
            ],
            "record_id": "P08018-1",
            "evidence": [
                {
                    "id": "0111462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01986-1",
            "uniprot_ac": "Q01986",
            "uniprot_id": "MP2K1_RAT",
            "refseq_ac": "NP_113831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity mitogen-activated protein kinase kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.2",
                    "type": "synonym"
                },
                {
                    "name": "ERK activator kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase/Erk kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAPK/ERK kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAPKK 1",
                    "type": "synonym"
                },
                {
                    "name": "MEK 1",
                    "type": "synonym"
                },
                {
                    "name": "dual specificity mitogen-activated protein kinase kinase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Map2k1",
                    "type": "recommended"
                },
                {
                    "name": "Map2k1",
                    "type": "synonym"
                },
                {
                    "name": "Mek1",
                    "type": "synonym"
                },
                {
                    "name": "Prkmk1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01986-1",
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                {
                    "id": "0111462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111462"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q24324-1",
            "uniprot_ac": "Q24324",
            "uniprot_id": "DSOR1_DROME",
            "refseq_ac": "NP_001285044",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dual specificity mitogen-activated protein kinase kinase dSOR1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.12.2",
                    "type": "synonym"
                },
                {
                    "name": "CG15793-PB",
                    "type": "synonym"
                },
                {
                    "name": "Downstream of RAF",
                    "type": "synonym"
                },
                {
                    "name": "Dsor1-PB",
                    "type": "synonym"
                },
                {
                    "name": "MAPK kinase",
                    "type": "synonym"
                },
                {
                    "name": "MAPKK",
                    "type": "synonym"
                },
                {
                    "name": "Map kinase kinase",
                    "type": "synonym"
                },
                {
                    "name": "dSor1",
                    "type": "synonym"
                },
                {
                    "name": "downstream of Raf1",
                    "type": "synonym"
                },
                {
                    "name": "downstream of raf1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "downstream suppressor of Raf 1",
                    "type": "synonym"
                },
                {
                    "name": "drosophila MEK",
                    "type": "synonym"
                },
                {
                    "name": "mitogen-activated protein kinase kinase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsor1",
                    "type": "recommended"
                },
                {
                    "name": "2",
                    "type": "synonym"
                },
                {
                    "name": "CG15793",
                    "type": "synonym"
                },
                {
                    "name": "D-MEK/Dsor",
                    "type": "synonym"
                },
                {
                    "name": "D-MEK",
                    "type": "synonym"
                },
                {
                    "name": "D-Mek",
                    "type": "synonym"
                },
                {
                    "name": "D-SOR",
                    "type": "synonym"
                },
                {
                    "name": "D-Sor",
                    "type": "synonym"
                },
                {
                    "name": "D-mek",
                    "type": "synonym"
                },
                {
                    "name": "D-sor-1",
                    "type": "synonym"
                },
                {
                    "name": "D-sor",
                    "type": "synonym"
                },
                {
                    "name": "DMEK-1",
                    "type": "synonym"
                },
                {
                    "name": "DRODSOR1",
                    "type": "synonym"
                },
                {
                    "name": "DSOR1",
                    "type": "synonym"
                },
                {
                    "name": "DSORT",
                    "type": "synonym"
                },
                {
                    "name": "DSOR",
                    "type": "synonym"
                },
                {
                    "name": "DSor1",
                    "type": "synonym"
                },
                {
                    "name": "DSor",
                    "type": "synonym"
                },
                {
                    "name": "Dmek",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG15793",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG15793",
                    "type": "synonym"
                },
                {
                    "name": "Dsor1",
                    "type": "synonym"
                },
                {
                    "name": "Dsor",
                    "type": "synonym"
                },
                {
                    "name": "EK1-1",
                    "type": "synonym"
                },
                {
                    "name": "MAPKK",
                    "type": "synonym"
                },
                {
                    "name": "MEK/Dsor1",
                    "type": "synonym"
                },
                {
                    "name": "MEK1/2",
                    "type": "synonym"
                },
                {
                    "name": "MEK1",
                    "type": "synonym"
                },
                {
                    "name": "MEK",
                    "type": "synonym"
                },
                {
                    "name": "Mek1/2",
                    "type": "synonym"
                },
                {
                    "name": "Mek",
                    "type": "synonym"
                },
                {
                    "name": "SOR",
                    "type": "synonym"
                },
                {
                    "name": "Sor",
                    "type": "synonym"
                },
                {
                    "name": "Su(Raf)34B",
                    "type": "synonym"
                },
                {
                    "name": "dMEK",
                    "type": "synonym"
                },
                {
                    "name": "dMek",
                    "type": "synonym"
                },
                {
                    "name": "dSor1",
                    "type": "synonym"
                },
                {
                    "name": "dSor",
                    "type": "synonym"
                },
                {
                    "name": "dsor1",
                    "type": "synonym"
                },
                {
                    "name": "dsor",
                    "type": "synonym"
                },
                {
                    "name": "mek",
                    "type": "synonym"
                },
                {
                    "name": "sor/MEK1",
                    "type": "synonym"
                },
                {
                    "name": "sor",
                    "type": "synonym"
                }
            ],
            "record_id": "Q24324-1",
            "evidence": [
                {
                    "id": "0111462",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111462"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111462"
}