{
    "disease_id": "DOID:0112161",
    "recommended_name": {
        "id": "DOID:0112161",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112161",
        "name": "Noonan syndrome 13",
        "description": "A Noonan syndrome characterized by developmental delay, variably impaired intellectual development, reduced postnatal growth, and craniofacial anomalies that has_material_basis_in heterozygous mutation in the MAPK1 gene on chromosome 22q11.22, where the mutation enhances phosphorylation of the kinase."
    },
    "synonyms": [
        {
            "id": "DOID:0112161",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112161",
            "name": "NS13",
            "description": ""
        },
        {
            "id": "MONDO:0033669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033669",
            "name": "Noonan syndrome 13",
            "description": ""
        },
        {
            "id": "MONDO:0033669",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033669",
            "name": "NS13",
            "description": ""
        },
        {
            "id": "MIM:619087",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619087",
            "name": "Noonan syndrome 13",
            "description": "Noonan syndrome 13"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112161"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112161",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112161",
            "categories": []
        },
        {
            "id": "MONDO:0033669",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033669",
            "categories": []
        },
        {
            "id": "MIM:619087",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619087",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P63085-1",
            "uniprot_ac": "P63085",
            "uniprot_id": "MK01_MOUSE",
            "refseq_ac": "NP_001033752",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.24",
                    "type": "synonym"
                },
                {
                    "name": "ERK-2",
                    "type": "synonym"
                },
                {
                    "name": "ERT1",
                    "type": "synonym"
                },
                {
                    "name": "Extracellular signal-regulated kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "MAP kinase isoform p42",
                    "type": "synonym"
                },
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                    "name": "MAPK 1",
                    "type": "synonym"
                },
                {
                    "name": "MAPK 2",
                    "type": "synonym"
                },
                {
                    "name": "Mitogen-activated protein kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "extracellular signal-regulated kinase 2",
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                },
                {
                    "name": "mitogen-activated protein kinase 2",
                    "type": "synonym"
                },
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                    "name": "p42-MAPK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mapk1",
                    "type": "recommended"
                },
                {
                    "name": "9030612K14Rik",
                    "type": "synonym"
                },
                {
                    "name": "ERK",
                    "type": "synonym"
                },
                {
                    "name": "Erk2",
                    "type": "synonym"
                },
                {
                    "name": "MAPK2",
                    "type": "synonym"
                },
                {
                    "name": "Mapk1",
                    "type": "synonym"
                },
                {
                    "name": "Mapk",
                    "type": "synonym"
                },
                {
                    "name": "PRKM2",
                    "type": "synonym"
                },
                {
                    "name": "Prkm1",
                    "type": "synonym"
                },
                {
                    "name": "p41mapk",
                    "type": "synonym"
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                    "name": "p42mapk",
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                }
            ],
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                }
            ]
        },
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            "uniprot_ac": "P28482",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Mitogen-activated protein kinase 1",
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                    "name": "2.7.11.24",
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                {
                    "name": "ERT1",
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                {
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                    "type": "synonym"
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                    "name": "MAP kinase 1",
                    "type": "synonym"
                },
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                    "type": "synonym"
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                {
                    "name": "MAP kinase isoform p42",
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                },
                {
                    "name": "protein tyrosine kinase ERK2",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "MAPK1",
                    "type": "recommended"
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                {
                    "name": "ERK-2",
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                },
                {
                    "name": "ERK2",
                    "type": "synonym"
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                {
                    "name": "ERK",
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                },
                {
                    "name": "ERT1",
                    "type": "synonym"
                },
                {
                    "name": "MAPK1",
                    "type": "synonym"
                },
                {
                    "name": "MAPK2",
                    "type": "synonym"
                },
                {
                    "name": "NS13",
                    "type": "synonym"
                },
                {
                    "name": "P42MAPK",
                    "type": "synonym"
                },
                {
                    "name": "PRKM1",
                    "type": "synonym"
                },
                {
                    "name": "PRKM2",
                    "type": "synonym"
                },
                {
                    "name": "p38",
                    "type": "synonym"
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                {
                    "name": "p40",
                    "type": "synonym"
                },
                {
                    "name": "p41mapk",
                    "type": "synonym"
                },
                {
                    "name": "p41",
                    "type": "synonym"
                },
                {
                    "name": "p42-MAPK",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "619087",
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                    "url": "https://www.omim.org/entry/619087"
                },
                {
                    "id": "0112161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112161"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16892-1",
            "uniprot_ac": "P16892",
            "uniprot_id": "FUS3_YEAST",
            "refseq_ac": "NP_009537",
            "glycoprotein": "no",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mitogen-activated protein kinase FUS3",
                    "type": "recommended"
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                    "name": "2.7.11.24",
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                {
                    "name": "MAP kinase FUS3",
                    "type": "synonym"
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                    "name": "mitogen-activated serine/threonine-protein kinase FUS3",
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                }
            ],
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                    "name": "FUS3",
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                    "name": "DAC2",
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                    "name": "FUS3",
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                {
                    "name": "YBL03.21",
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                    "name": "YBL0303",
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                    "id": "0112161",
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            ]
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        {
            "uniprot_canonical_ac": "P14681-1",
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                {
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                }
            ],
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                    "name": "2.7.11.24",
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                    "name": "Kinase suppressor of SST2",
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                    "name": "MAP kinase KSS1",
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                    "name": "mitogen-activated serine/threonine-protein kinase KSS1",
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            ],
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                    "name": "KSS1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Mitogen-activated protein kinase 1",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "drosophila ERK",
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                    "name": "rl-PG",
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                {
                    "name": "rolled, isoform G",
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                    "name": "rolled",
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                {
                    "name": "sevenmaker",
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                    "name": "BcDNA:RE08694",
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                    "name": "CG18732",
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                    "name": "CT34260",
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                    "name": "CT39192",
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                    "name": "D-ERK",
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                    "name": "DERK",
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                {
                    "name": "DmERKA",
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                    "name": "DmERK",
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                    "name": "DmErk",
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                {
                    "name": "DmMAPK",
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                {
                    "name": "Dmel\\CG12559",
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                {
                    "name": "DpERK",
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                {
                    "name": "DpErk",
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                {
                    "name": "Dsor2",
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                {
                    "name": "E(sina)7",
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                {
                    "name": "EC2-1",
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                    "name": "ERK1/2",
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                {
                    "name": "ERK1",
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                    "name": "ERKA",
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                {
                    "name": "ERKa",
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                    "name": "ERK",
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                {
                    "name": "Erk/Map kinase",
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                {
                    "name": "Erk1/2",
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                {
                    "name": "Erk1",
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                {
                    "name": "ErkA",
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                {
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                    "name": "GroupII",
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                    "name": "MAP-k",
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                {
                    "name": "MAPK",
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                    "name": "MapK",
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                    "name": "Mapk",
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                    "name": "RL",
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                {
                    "name": "Rl",
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                    "name": "Rolled",
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                    "name": "SEM",
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                {
                    "name": "SR2-1",
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                {
                    "name": "Sem",
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                {
                    "name": "Su(Raf)2B",
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                {
                    "name": "dERK",
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                {
                    "name": "dErk",
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                {
                    "name": "dm-dpERK",
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                {
                    "name": "dp-ERK",
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                },
                {
                    "name": "dpERK1",
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                {
                    "name": "dpERK",
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                {
                    "name": "dpERk",
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                },
                {
                    "name": "dpErk",
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                {
                    "name": "dpMAPK",
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                },
                {
                    "name": "erk",
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                {
                    "name": "l(2)41Ac",
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                },
                {
                    "name": "l(2R)EMS45-39",
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                {
                    "name": "mapk",
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                {
                    "name": "p-ERK",
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                {
                    "name": "p-Erk",
                    "type": "synonym"
                },
                {
                    "name": "pERK",
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                },
                {
                    "name": "pMAPK",
                    "type": "synonym"
                },
                {
                    "name": "pMapK",
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                {
                    "name": "rl/ERK",
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                {
                    "name": "rl/MAPK",
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                {
                    "name": "rll",
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                },
                {
                    "name": "rl",
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                },
                {
                    "name": "sem",
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                }
            ],
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                {
                    "id": "0112161",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112161"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112161"
}