{
    "disease_id": "DOID:0060703",
    "recommended_name": {
        "id": "DOID:0060703",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060703",
        "name": "Muenke Syndrome",
        "description": "A craniosyntosis characterized by autosomal dominant inheritance, uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay that has_material_basis_in a pro250 to agr (P250R) heterozygous mutation in the FGFR3 gene on chromosome 4p16.3."
    },
    "synonyms": [
        {
            "id": "DOID:0060703",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060703",
            "name": "FGFR3-related craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "Muenke syndrome",
            "description": "Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay."
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "FGFR3-related craniosynostosis",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "MNKES",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "Muenke syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "craniosynostosis - dysmorphism - brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "craniosynostosis brachydactyly",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "craniosynostosis with facial dysmorphism and brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "craniosynostosis-dysmorphism-brachydactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "glass-chapman-hockley syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011274",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "name": "syndrome of coronal craniosynostosis",
            "description": ""
        },
        {
            "id": "MIM:602849",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602849",
            "name": "Muenke syndrome",
            "description": "Muenke syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060703"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060703",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060703",
            "categories": []
        },
        {
            "id": "MONDO:0011274",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011274",
            "categories": []
        },
        {
            "id": "MIM:602849",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602849",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9I8X3-1",
            "uniprot_ac": "Q9I8X3",
            "uniprot_id": "FGFR3_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgfr3",
                    "type": "recommended"
                },
                {
                    "name": "fc27h01",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu563",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc27h01",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I8X3-1",
            "evidence": [
                {
                    "id": "0060703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61851-1",
            "uniprot_ac": "Q61851",
            "uniprot_id": "FGFR3_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-3",
                    "type": "synonym"
                },
                {
                    "name": "Heparin-binding growth factor receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgfr3",
                    "type": "recommended"
                },
                {
                    "name": "Mfr3",
                    "type": "synonym"
                },
                {
                    "name": "Sam3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q61851-1",
            "evidence": [
                {
                    "id": "0060703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P22607-1",
            "uniprot_ac": "P22607",
            "uniprot_id": "FGFR3_HUMAN",
            "refseq_ac": "NP_000133",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-3",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 3-S",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyaryl-protein kinase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine kinase JTK4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGFR3",
                    "type": "recommended"
                },
                {
                    "name": "ACH",
                    "type": "synonym"
                },
                {
                    "name": "CD333",
                    "type": "synonym"
                },
                {
                    "name": "CEK2",
                    "type": "synonym"
                },
                {
                    "name": "FGFR3",
                    "type": "synonym"
                },
                {
                    "name": "HSFGFR3EX",
                    "type": "synonym"
                },
                {
                    "name": "JTK4",
                    "type": "synonym"
                }
            ],
            "record_id": "P22607-1",
            "evidence": [
                {
                    "id": "602849",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602849"
                },
                {
                    "id": "0060703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LSN4-1",
            "uniprot_ac": "F1LSN4",
            "uniprot_id": "F1LSN4_RAT",
            "refseq_ac": "XP_006251457",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 3 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgfr3",
                    "type": "recommended"
                },
                {
                    "name": "Fgfr3",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LSN4-1",
            "evidence": [
                {
                    "id": "0060703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53987-1",
            "uniprot_ac": "P53987",
            "uniprot_id": "MOT1_RAT",
            "refseq_ac": "NP_036848",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "MCT 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 1",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier 16 (monocarboxylic acid transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylate transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylic acid transporters), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc16a1",
                    "type": "recommended"
                },
                {
                    "name": "MCT1",
                    "type": "synonym"
                },
                {
                    "name": "Mct1",
                    "type": "synonym"
                },
                {
                    "name": "RATMCT1",
                    "type": "synonym"
                },
                {
                    "name": "RNMCT1",
                    "type": "synonym"
                },
                {
                    "name": "Slc16a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53987-1",
            "evidence": [
                {
                    "id": "0060703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q09147-1",
            "uniprot_ac": "Q09147",
            "uniprot_id": "FGFR2_DROME",
            "refseq_ac": "NP_001014583",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor homolog 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
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                },
                {
                    "name": "CG32134-PB",
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                },
                {
                    "name": "FGF receptor",
                    "type": "synonym"
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                {
                    "name": "FGFR",
                    "type": "synonym"
                },
                {
                    "name": "Fibroblast-growth-factor-receptor",
                    "type": "synonym"
                },
                {
                    "name": "Protein breathless",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase receptor HD-311",
                    "type": "synonym"
                },
                {
                    "name": "breathless, isoform B",
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                },
                {
                    "name": "breathless",
                    "type": "synonym"
                },
                {
                    "name": "btl-PB",
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                {
                    "name": "dFGF-R1",
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                },
                {
                    "name": "dTk2",
                    "type": "synonym"
                },
                {
                    "name": "devenir",
                    "type": "synonym"
                },
                {
                    "name": "fibrobast growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) j2E11",
                    "type": "synonym"
                },
                {
                    "name": "no terminal cell clones-L",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "btl",
                    "type": "recommended"
                },
                {
                    "name": "0844/01",
                    "type": "synonym"
                },
                {
                    "name": "BTL/FGFR2",
                    "type": "synonym"
                },
                {
                    "name": "BTL",
                    "type": "synonym"
                },
                {
                    "name": "Btl",
                    "type": "synonym"
                },
                {
                    "name": "CG32134",
                    "type": "synonym"
                },
                {
                    "name": "CG6714",
                    "type": "synonym"
                },
                {
                    "name": "CT20816",
                    "type": "synonym"
                },
                {
                    "name": "D-FGFR",
                    "type": "synonym"
                },
                {
                    "name": "DFGF-R1",
                    "type": "synonym"
                },
                {
                    "name": "DFR2",
                    "type": "synonym"
                },
                {
                    "name": "Dfr-2",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-311",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32134",
                    "type": "synonym"
                },
                {
                    "name": "Dtk2",
                    "type": "synonym"
                },
                {
                    "name": "FGFR1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR",
                    "type": "synonym"
                },
                {
                    "name": "FR2",
                    "type": "synonym"
                },
                {
                    "name": "Fgf-r",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr",
                    "type": "synonym"
                },
                {
                    "name": "HD-311",
                    "type": "synonym"
                },
                {
                    "name": "Tk2",
                    "type": "synonym"
                },
                {
                    "name": "btl",
                    "type": "synonym"
                },
                {
                    "name": "dFGFR",
                    "type": "synonym"
                },
                {
                    "name": "dev",
                    "type": "synonym"
                },
                {
                    "name": "dtk2",
                    "type": "synonym"
                },
                {
                    "name": "fgf-r",
                    "type": "synonym"
                },
                {
                    "name": "l(3)00208",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j2E11",
                    "type": "synonym"
                }
            ],
            "record_id": "Q09147-1",
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                {
                    "id": "0060703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060703"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07407-1",
            "uniprot_ac": "Q07407",
            "uniprot_id": "FGFR1_DROME",
            "refseq_ac": "NP_524394",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor receptor homolog 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG7223-PB",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-38",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor",
                    "type": "synonym"
                },
                {
                    "name": "Protein heartless",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "dTk1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "heartless, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "heartless",
                    "type": "synonym"
                },
                {
                    "name": "htl-PB",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "htl",
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                },
                {
                    "name": "CG7223",
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                },
                {
                    "name": "CT22273",
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                },
                {
                    "name": "CT39172",
                    "type": "synonym"
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                {
                    "name": "DFGF-R1",
                    "type": "synonym"
                },
                {
                    "name": "DFGF-R2",
                    "type": "synonym"
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                {
                    "name": "DFR-1",
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                },
                {
                    "name": "DFR1/DFGF-R2",
                    "type": "synonym"
                },
                {
                    "name": "DFR1",
                    "type": "synonym"
                },
                {
                    "name": "DPR3",
                    "type": "synonym"
                },
                {
                    "name": "DTRK(FR1)",
                    "type": "synonym"
                },
                {
                    "name": "Dfr-1",
                    "type": "synonym"
                },
                {
                    "name": "Dfr1",
                    "type": "synonym"
                },
                {
                    "name": "DmHD-38",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7223",
                    "type": "synonym"
                },
                {
                    "name": "Dtk1",
                    "type": "synonym"
                },
                {
                    "name": "EMS2",
                    "type": "synonym"
                },
                {
                    "name": "FGF-R2",
                    "type": "synonym"
                },
                {
                    "name": "FGFR2",
                    "type": "synonym"
                },
                {
                    "name": "FGFR",
                    "type": "synonym"
                },
                {
                    "name": "FR1",
                    "type": "synonym"
                },
                {
                    "name": "Fr1",
                    "type": "synonym"
                },
                {
                    "name": "HD-38",
                    "type": "synonym"
                },
                {
                    "name": "HTL/FGFR1",
                    "type": "synonym"
                },
                {
                    "name": "Htl",
                    "type": "synonym"
                },
                {
                    "name": "Tk1",
                    "type": "synonym"
                },
                {
                    "name": "dtk1",
                    "type": "synonym"
                },
                {
                    "name": "htl",
                    "type": "synonym"
                },
                {
                    "name": "i100",
                    "type": "synonym"
                },
                {
                    "name": "i150",
                    "type": "synonym"
                },
                {
                    "name": "i79",
                    "type": "synonym"
                },
                {
                    "name": "j372",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07407-1",
            "evidence": [
                {
                    "id": "0060703",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060703"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060703"
}