{
    "disease_id": "DOID:0111337",
    "recommended_name": {
        "id": "DOID:0111337",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111337",
        "name": "Jackson-Weiss syndrome",
        "description": "A syndrome characterized by craniosynostosis, midfacial hypoplasia, and foot malformations that has_material_basis_in heterozygous mutation in the FGFR2 gene on chromosome 10q26.13."
    },
    "synonyms": [
        {
            "id": "DOID:0111337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111337",
            "name": "JWS",
            "description": ""
        },
        {
            "id": "DOID:0111337",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111337",
            "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "name": "Jackson-Weiss syndrome",
            "description": "Jackson-Weiss syndrome (JWS) is a rare genetic disorder characterized by foot malformations (tarsal and metatarsal fusions; short, broad, medially deviated great toes) and in some patients craniosynostosis with facial anomalies. Hands are normal in affected patients."
        },
        {
            "id": "MONDO:0007400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "name": "JWS",
            "description": ""
        },
        {
            "id": "MONDO:0007400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "name": "Jackson-Weiss syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007400",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "name": "craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome",
            "description": ""
        },
        {
            "id": "MIM:123150",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/123150",
            "name": "Jackson-Weiss syndrome",
            "description": "Jackson-Weiss syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111337"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111337",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111337",
            "categories": []
        },
        {
            "id": "MONDO:0007400",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007400",
            "categories": []
        },
        {
            "id": "MIM:123150",
            "database": "MIM",
            "url": "https://www.omim.org/entry/123150",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90Z00-1",
            "uniprot_ac": "Q90Z00",
            "uniprot_id": "FGR1A_DANRE",
            "refseq_ac": "NP_001296328",
            "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 1-A",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Basic fibroblast growth factor receptor 1-A",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-1-A",
                    "type": "synonym"
                },
                {
                    "name": "Fgf receptor 1a isoform IIIb",
                    "type": "synonym"
                },
                {
                    "name": "Fgf receptor 1a isoform IIIc",
                    "type": "synonym"
                },
                {
                    "name": "bFGF-R-1-A",
                    "type": "synonym"
                },
                {
                    "name": "basic fibroblast growth factor receptor 1-A",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 1-A isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgfr1a",
                    "type": "recommended"
                },
                {
                    "name": "FGFR-1-A",
                    "type": "synonym"
                },
                {
                    "name": "bFGF-R-1-A",
                    "type": "synonym"
                },
                {
                    "name": "cb231",
                    "type": "synonym"
                },
                {
                    "name": "fgfr1a",
                    "type": "synonym"
                },
                {
                    "name": "fgfr1",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb231",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-198o12.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90Z00-1",
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                    "id": "0111337",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NUM7-1",
            "uniprot_ac": "A0A8M1NUM7",
            "uniprot_id": "A0A8M1NUM7_DANRE",
            "refseq_ac": "NP_001155204",
            "glycoprotein": "no",
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                }
            ],
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                    "name": "Fibroblast growth factor receptor",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 1b precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgfr1b",
                    "type": "recommended"
                },
                {
                    "name": "fgfr1b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-180b9.1",
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                }
            ],
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                {
                    "id": "0111337",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8JG38-1",
            "uniprot_ac": "Q8JG38",
            "uniprot_id": "FGFR2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
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                    "name": "Fibroblast growth factor receptor 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "fgfr2",
                    "type": "recommended"
                },
                {
                    "name": "fc56c05",
                    "type": "synonym"
                },
                {
                    "name": "fgfr-2",
                    "type": "synonym"
                },
                {
                    "name": "fgfr2b",
                    "type": "synonym"
                },
                {
                    "name": "fgfr2c",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc56c05",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8JG38-1",
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                {
                    "id": "0111337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16092-1",
            "uniprot_ac": "P16092",
            "uniprot_id": "FGFR1_MOUSE",
            "refseq_ac": "NP_001073377",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Basic fibroblast growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "MFR",
                    "type": "synonym"
                },
                {
                    "name": "Proto-oncogene c-Fgr",
                    "type": "synonym"
                },
                {
                    "name": "bFGF-R-1",
                    "type": "synonym"
                },
                {
                    "name": "basic fibroblast growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 1 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Fgr",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgfr1",
                    "type": "recommended"
                },
                {
                    "name": "Eask",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-I",
                    "type": "synonym"
                },
                {
                    "name": "FLG",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr-1",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr1",
                    "type": "synonym"
                },
                {
                    "name": "Flg",
                    "type": "synonym"
                },
                {
                    "name": "Flt-2",
                    "type": "synonym"
                },
                {
                    "name": "Fr1",
                    "type": "synonym"
                },
                {
                    "name": "Hspy",
                    "type": "synonym"
                },
                {
                    "name": "MFR",
                    "type": "synonym"
                },
                {
                    "name": "bFGF-R-1",
                    "type": "synonym"
                },
                {
                    "name": "c-fgr",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111337",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21803-1",
            "uniprot_ac": "P21803",
            "uniprot_id": "FGFR2_MOUSE",
            "refseq_ac": "NP_034337",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-2",
                    "type": "synonym"
                },
                {
                    "name": "KGFR",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 2 isoform IIIc precursor",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte growth factor receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgfr2",
                    "type": "recommended"
                },
                {
                    "name": "Bek",
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                },
                {
                    "name": "Ect1",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr-2",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr-7",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr2b",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr2",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr7",
                    "type": "synonym"
                },
                {
                    "name": "KGFRTr",
                    "type": "synonym"
                },
                {
                    "name": "KGFR",
                    "type": "synonym"
                },
                {
                    "name": "svs",
                    "type": "synonym"
                }
            ],
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                    "id": "0111337",
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            ]
        },
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            "uniprot_canonical_ac": "P11362-1",
            "uniprot_ac": "P11362",
            "uniprot_id": "FGFR1_HUMAN",
            "refseq_ac": "NP_001167534",
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            "species": [
                {
                    "name": "Homo sapiens",
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                    "common_name": "Human",
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                }
            ],
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                    "name": "Fibroblast growth factor receptor 1",
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                    "type": "synonym"
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                {
                    "name": "Basic fibroblast growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR1/PLAG1 fusion",
                    "type": "synonym"
                },
                {
                    "name": "FLT-2",
                    "type": "synonym"
                },
                {
                    "name": "FMS-like tyrosine kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Fms-like tyrosine kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "N-sam",
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                {
                    "name": "basic fibroblast growth factor receptor 1",
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                    "name": "fibroblast growth factor receptor 1 isoform 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fms-related tyrosine kinase 2",
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                },
                {
                    "name": "heparin-binding growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "hydroxyaryl-protein kinase",
                    "type": "synonym"
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                    "name": "proto-oncogene c-Fgr",
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                }
            ],
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                    "name": "FGFR1",
                    "type": "recommended"
                },
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                    "name": "BFGFR",
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                },
                {
                    "name": "CD331",
                    "type": "synonym"
                },
                {
                    "name": "CEK",
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                },
                {
                    "name": "ECCL",
                    "type": "synonym"
                },
                {
                    "name": "FGFBR",
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                },
                {
                    "name": "FGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR1",
                    "type": "synonym"
                },
                {
                    "name": "FLG",
                    "type": "synonym"
                },
                {
                    "name": "FLT-2",
                    "type": "synonym"
                },
                {
                    "name": "FLT2",
                    "type": "synonym"
                },
                {
                    "name": "HBGFR",
                    "type": "synonym"
                },
                {
                    "name": "HH2",
                    "type": "synonym"
                },
                {
                    "name": "HRTFDS",
                    "type": "synonym"
                },
                {
                    "name": "KAL2",
                    "type": "synonym"
                },
                {
                    "name": "N-SAM",
                    "type": "synonym"
                },
                {
                    "name": "OGD",
                    "type": "synonym"
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                    "name": "bFGF-R-1",
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                    "id": "123150",
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                },
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                    "id": "0111337",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111337"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21802-1",
            "uniprot_ac": "P21802",
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            "refseq_ac": "NP_000132",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
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                }
            ],
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                    "name": "Fibroblast growth factor receptor 2",
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                },
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                    "name": "BEK fibroblast growth factor receptor",
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                {
                    "name": "FGFR-2",
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                },
                {
                    "name": "K-sam",
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                {
                    "name": "KGFR",
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                },
                {
                    "name": "Keratinocyte growth factor receptor",
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                {
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                {
                    "name": "fibroblast growth factor receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte growth factor receptor",
                    "type": "synonym"
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                {
                    "name": "protein tyrosine kinase, receptor like 14",
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                }
            ],
            "gene_names": [
                {
                    "name": "FGFR2",
                    "type": "recommended"
                },
                {
                    "name": "BBDS",
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                },
                {
                    "name": "BEK",
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                },
                {
                    "name": "BFR-1",
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                },
                {
                    "name": "CD332",
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                {
                    "name": "CEK3",
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                },
                {
                    "name": "CFD1",
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                },
                {
                    "name": "ECT1",
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                },
                {
                    "name": "FGFR2",
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                },
                {
                    "name": "JWS",
                    "type": "synonym"
                },
                {
                    "name": "K-SAM",
                    "type": "synonym"
                },
                {
                    "name": "KGFR",
                    "type": "synonym"
                },
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                    "name": "KSAM",
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                },
                {
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                    "name": "TK25",
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                    "id": "0111337",
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                }
            ]
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            "uniprot_canonical_ac": "Q04589-1",
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            "refseq_ac": "NP_077060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Fibroblast growth factor receptor 1",
                    "type": "recommended"
                },
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                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "Basic fibroblast growth factor receptor 1",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor-1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "MFR",
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                },
                {
                    "name": "Proto-oncogene c-Fgr",
                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "fibroblast growth factor receptor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene c-Fgr",
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                }
            ],
            "gene_names": [
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                    "name": "Fgfr1",
                    "type": "recommended"
                },
                {
                    "name": "FGFR-1",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr1",
                    "type": "synonym"
                },
                {
                    "name": "Flg",
                    "type": "synonym"
                },
                {
                    "name": "MFR",
                    "type": "synonym"
                },
                {
                    "name": "bFGF-R-1",
                    "type": "synonym"
                },
                {
                    "name": "bFGF-R",
                    "type": "synonym"
                },
                {
                    "name": "c-fgr",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111337",
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                }
            ]
        },
        {
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                    "name": "fibroblast growth factor receptor 2 isoform a precursor",
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                    "name": "Fgfr2",
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                    "name": "KGFR",
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    "association_flag": "1000",
    "record_id": "doid.0111337"
}