{
    "disease_id": "DOID:0060249",
    "recommended_name": {
        "id": "DOID:0060249",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060249",
        "name": "scoliosis",
        "description": "A bone structure disease characterized by an appreciable lateral deviation in the normally straight vertical line of the spine."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0060250",
            "label": "idiopathic scoliosis",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060249",
        "DOID:0060250"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060249",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060249",
            "categories": []
        }
    ],
    "proteins": [
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            "uniprot_ac": "Q2I6J1",
            "uniprot_id": "SHP2A_DANRE",
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                }
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                    "type": "synonym"
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                },
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                    "name": "zgc:198309",
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                }
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                    "id": "0060249",
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                }
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                    "name": "FGFR-3",
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                    "id": "0060249",
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                {
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            ],
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                {
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                {
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                {
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                {
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            ],
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            ],
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                {
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                {
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                {
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                {
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                {
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                {
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                {
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                {
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                },
                {
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                {
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                {
                    "name": "collagen alpha-2(I) chain",
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                {
                    "name": "collagen, type I, alpha 2",
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                {
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                {
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            ],
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                    "id": "0060249",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q700K0-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                }
            ],
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                {
                    "name": "SCO-spondin",
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                },
                {
                    "name": "SCO-spondin precursor",
                    "type": "synonym"
                },
                {
                    "name": "subcommissural organ spondin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sspo",
                    "type": "recommended"
                },
                {
                    "name": "Scospondin",
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                },
                {
                    "name": "Sspo",
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                }
            ],
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                {
                    "id": "0060249",
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                }
            ]
        },
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            "uniprot_canonical_ac": "D3ZMB0-1",
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                }
            ],
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                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 9 precursor",
                    "type": "synonym"
                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 9",
                    "type": "synonym"
                },
                {
                    "name": "ADAM metallopeptidase with thrombospondin type 1 motif, 9",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Adamts9",
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                },
                {
                    "name": "Adamts9",
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                }
            ],
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                    "id": "0060249",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LSN4-1",
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                {
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                }
            ],
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                {
                    "name": "Fibroblast growth factor receptor",
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                },
                {
                    "name": "2.7.10.1",
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                },
                {
                    "name": "fibroblast growth factor receptor 3 isoform X3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Fgfr3",
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                },
                {
                    "name": "Fgfr3",
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                }
            ],
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                {
                    "id": "0060249",
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                }
            ]
        },
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Branched-chain alpha-ketoacid dehydrogenase kinase",
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                },
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                    "name": "2.7.11.1",
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                },
                {
                    "name": "2.7.11.4",
                    "type": "synonym"
                },
                {
                    "name": "BCKD-kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDH kinase",
                    "type": "synonym"
                },
                {
                    "name": "BCKDHKIN",
                    "type": "synonym"
                },
                {
                    "name": "BDK",
                    "type": "synonym"
                },
                {
                    "name": "[3-methyl-2-oxobutanoate dehydrogenase [lipoamide]] kinase, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase precursor",
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                },
                {
                    "name": "branched-chain alpha-ketoacid dehydrogenase kinase",
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                }
            ],
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                {
                    "name": "Bckdk",
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                },
                {
                    "name": "BDK",
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                },
                {
                    "name": "Bckdk",
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                {
                    "name": "Kat8",
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                }
            ],
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                {
                    "id": "0060249",
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                }
            ]
        },
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            "uniprot_canonical_ac": "P53987-1",
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                    "name": "Rattus norvegicus",
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                }
            ],
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                {
                    "name": "Monocarboxylate transporter 1",
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                {
                    "name": "MCT 1",
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                },
                {
                    "name": "Solute carrier family 16 member 1",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 1",
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                },
                {
                    "name": "solute carrier 16 (monocarboxylic acid transporter), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylate transporter), member 1",
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                },
                {
                    "name": "solute carrier family 16 (monocarboxylic acid transporters), member 1",
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                },
                {
                    "name": "solute carrier family 16, member 1 (monocarboxylic acid transporter 1)",
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            ],
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                {
                    "name": "Slc16a1",
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                    "name": "MCT1",
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                {
                    "name": "Mct1",
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                {
                    "name": "RATMCT1",
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                {
                    "name": "RNMCT1",
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                },
                {
                    "name": "Slc16a1",
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                }
            ],
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                    "id": "0060249",
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                }
            ]
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                }
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                    "name": "CG10535-PA",
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                    "name": "Elp1-PA",
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                {
                    "name": "elongator complex protein 1, isoform A",
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                }
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                    "name": "Elp1",
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                    "name": "CG10535",
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                    "name": "D-elp1",
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                    "name": "Dmel_CG10535",
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                    "name": "Elp1",
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                    "id": "0060249",
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                }
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                    "name": "Tryptophan 5-hydroxylase 2",
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                    "name": "1.14.16.4",
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                    "name": "CG9122-PA",
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                    "name": "Tryptophan 5-monooxygenase 2",
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                {
                    "name": "tryptophan hydroxylase neuronal",
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                    "name": "tryptophan hydroxylase",
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                    "name": "Trhn",
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                    "name": "CG9122",
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                    "name": "CT9937",
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                    "name": "DTRHn",
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                    "name": "DTRH",
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                    "name": "TrH",
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                    "name": "trh",
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                    "id": "0060249",
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                    "name": "Hml-PA",
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                    "name": "hemolectin, isoform A",
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                    "name": "Gp160-Dtrk",
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                {
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                {
                    "name": "Tyrosine-protein kinase-like 7 homolog",
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                    "name": "off-track, isoform A",
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                    "name": "offtrack",
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                    "name": "tyrosine kinase at 48D",
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                    "name": "CT25769",
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                {
                    "name": "Dtrk",
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                {
                    "name": "IGGtyk",
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                {
                    "name": "OFT/TRK",
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                    "name": "OTK",
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                    "name": "Otk",
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                {
                    "name": "TRK",
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                {
                    "name": "Tk48D",
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                {
                    "name": "Trk48D",
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                {
                    "name": "anon-WO2004063362.81",
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                    "name": "dTrk",
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                    "name": "otk",
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                    "id": "0060249",
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                    "name": "CG32134-PB",
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                    "name": "FGF receptor",
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                {
                    "name": "Fibroblast-growth-factor-receptor",
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                {
                    "name": "Protein breathless",
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                {
                    "name": "Tyrosine kinase 2",
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                    "name": "Tyrosine kinase receptor HD-311",
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                {
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                {
                    "name": "btl-PB",
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                {
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                {
                    "name": "dTk2",
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                {
                    "name": "devenir",
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                {
                    "name": "fibrobast growth factor receptor",
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                    "name": "fibroblast growth factor receptor 1",
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                },
                {
                    "name": "fibroblast growth factor receptor",
                    "type": "synonym"
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                {
                    "name": "lethal (3) j2E11",
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                {
                    "name": "no terminal cell clones-L",
                    "type": "synonym"
                }
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                    "name": "btl",
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                {
                    "name": "0844/01",
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                {
                    "name": "BTL/FGFR2",
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                {
                    "name": "BTL",
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                    "name": "Btl",
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                {
                    "name": "CG32134",
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                    "name": "CG6714",
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                    "name": "CT20816",
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                },
                {
                    "name": "D-FGFR",
                    "type": "synonym"
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                {
                    "name": "DFGF-R1",
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                },
                {
                    "name": "DFR2",
                    "type": "synonym"
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                {
                    "name": "Dfr-2",
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                    "name": "DmHD-311",
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                {
                    "name": "Dmel\\CG32134",
                    "type": "synonym"
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                    "name": "Dtk2",
                    "type": "synonym"
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                {
                    "name": "FGFR1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR",
                    "type": "synonym"
                },
                {
                    "name": "FR2",
                    "type": "synonym"
                },
                {
                    "name": "Fgf-r",
                    "type": "synonym"
                },
                {
                    "name": "Fgfr",
                    "type": "synonym"
                },
                {
                    "name": "HD-311",
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                },
                {
                    "name": "Tk2",
                    "type": "synonym"
                },
                {
                    "name": "btl",
                    "type": "synonym"
                },
                {
                    "name": "dFGFR",
                    "type": "synonym"
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                {
                    "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"
                }
            ],
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                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07407-1",
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            "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",
                    "type": "recommended"
                },
                {
                    "name": "CG7223",
                    "type": "synonym"
                },
                {
                    "name": "CT22273",
                    "type": "synonym"
                },
                {
                    "name": "CT39172",
                    "type": "synonym"
                },
                {
                    "name": "DFGF-R1",
                    "type": "synonym"
                },
                {
                    "name": "DFGF-R2",
                    "type": "synonym"
                },
                {
                    "name": "DFR-1",
                    "type": "synonym"
                },
                {
                    "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",
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2VEC9-1",
            "uniprot_ac": "A2VEC9",
            "uniprot_id": "SSPO_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "SCO-spondin",
                    "type": "recommended"
                },
                {
                    "name": "SCO-spondin pseudogene",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SSPOP",
                    "type": "recommended"
                },
                {
                    "name": "KIAA2036",
                    "type": "synonym"
                },
                {
                    "name": "SSPO",
                    "type": "synonym"
                }
            ],
            "record_id": "A2VEC9-1",
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O15357-1",
            "uniprot_ac": "O15357",
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            "refseq_ac": "NP_001558",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.86",
                    "type": "synonym"
                },
                {
                    "name": "51C protein",
                    "type": "synonym"
                },
                {
                    "name": "INPPL-1",
                    "type": "synonym"
                },
                {
                    "name": "Inositol polyphosphate phosphatase-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Protein 51C",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing inositol 5'-phosphatase 2",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing inositol phosphatase 2",
                    "type": "synonym"
                },
                {
                    "name": "SH2 domain-containing inositol-5'-phosphatase 2",
                    "type": "synonym"
                },
                {
                    "name": "SHIP-2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol 3,4,5-trisphosphate 5-phosphatase 2",
                    "type": "synonym"
                },
                {
                    "name": "protein 51C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "INPPL1",
                    "type": "recommended"
                },
                {
                    "name": "INPPL1",
                    "type": "synonym"
                },
                {
                    "name": "OPSMD",
                    "type": "synonym"
                },
                {
                    "name": "SHIP2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q13308-1",
            "uniprot_ac": "Q13308",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive tyrosine-protein kinase 7",
                    "type": "recommended"
                },
                {
                    "name": "CCK-4",
                    "type": "synonym"
                },
                {
                    "name": "Colon carcinoma kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "PTK7 protein tyrosine kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "Protein-tyrosine kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "Pseudo tyrosine kinase receptor 7",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-protein kinase-like 7",
                    "type": "synonym"
                },
                {
                    "name": "colon carcinoma kinase 4",
                    "type": "synonym"
                },
                {
                    "name": "inactive tyrosine-protein kinase 7 isoform e",
                    "type": "synonym"
                },
                {
                    "name": "inactive tyrosine-protein kinase 7",
                    "type": "synonym"
                },
                {
                    "name": "pseudo tyrosine kinase receptor 7",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine-protein kinase-like 7",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "PTK7",
                    "type": "recommended"
                },
                {
                    "name": "CCK-4",
                    "type": "synonym"
                },
                {
                    "name": "CCK4",
                    "type": "synonym"
                },
                {
                    "name": "PTK7",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08123-1",
            "uniprot_ac": "P08123",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Collagen alpha-2(I) chain",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2 type I procollagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2(I) procollagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha 2(I)-collagen",
                    "type": "synonym"
                },
                {
                    "name": "alpha-2 type I collagen",
                    "type": "synonym"
                },
                {
                    "name": "collagen I, alpha-2 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain precursor",
                    "type": "synonym"
                },
                {
                    "name": "collagen alpha-2(I) chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen of skin, tendon and bone, alpha-2 chain",
                    "type": "synonym"
                },
                {
                    "name": "collagen, type I, alpha 2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "type I procollagen",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COL1A2",
                    "type": "recommended"
                },
                {
                    "name": "COL1A2",
                    "type": "synonym"
                },
                {
                    "name": "EDSARTH2",
                    "type": "synonym"
                },
                {
                    "name": "EDSCV",
                    "type": "synonym"
                },
                {
                    "name": "OI4",
                    "type": "synonym"
                }
            ],
            "record_id": "P08123-1",
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95947-1",
            "uniprot_ac": "O95947",
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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": "T-box transcription factor TBX6",
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                },
                {
                    "name": "T-box 6",
                    "type": "synonym"
                },
                {
                    "name": "T-box protein 6",
                    "type": "synonym"
                },
                {
                    "name": "T-box transcription factor TBX6",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "TBX6",
                    "type": "recommended"
                },
                {
                    "name": "SCDO5",
                    "type": "synonym"
                },
                {
                    "name": "TBX6",
                    "type": "synonym"
                }
            ],
            "record_id": "O95947-1",
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P2N4-3",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 9",
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                },
                {
                    "name": "3.4.24.-",
                    "type": "synonym"
                },
                {
                    "name": "A disintegrin and metalloproteinase with thrombospondin motifs 9 isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS 9",
                    "type": "synonym"
                },
                {
                    "name": "ADAM-TS9",
                    "type": "synonym"
                },
                {
                    "name": "ADAMTS-9",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase with thrombospondin motifs 9",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 9",
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                }
            ],
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                {
                    "name": "ADAMTS9",
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                {
                    "name": "ADAMTS9",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1312",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P2N4-3",
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P03956-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Interstitial collagenase",
                    "type": "recommended"
                },
                {
                    "name": "3.4.24.7",
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                },
                {
                    "name": "Fibroblast collagenase",
                    "type": "synonym"
                },
                {
                    "name": "MMP-1",
                    "type": "synonym"
                },
                {
                    "name": "Matrix metalloproteinase-1",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast collagenase",
                    "type": "synonym"
                },
                {
                    "name": "interstitial collagenase isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "matrix metallopeptidase 1 (interstitial collagenase)",
                    "type": "synonym"
                },
                {
                    "name": "matrix metalloprotease 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MMP1",
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                },
                {
                    "name": "CLG",
                    "type": "synonym"
                },
                {
                    "name": "MMP1",
                    "type": "synonym"
                }
            ],
            "record_id": "P03956-1",
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
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        {
            "uniprot_canonical_ac": "P22607-1",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Fibroblast growth factor receptor 3",
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                {
                    "name": "2.7.10.1",
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                },
                {
                    "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"
                }
            ],
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                {
                    "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",
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                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17752-1",
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            "refseq_ac": "NP_004170",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tryptophan 5-hydroxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.16.4",
                    "type": "synonym"
                },
                {
                    "name": "L-tryptophan hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Tryptophan 5-monooxygenase 1",
                    "type": "synonym"
                },
                {
                    "name": "indoleacetic acid-5-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 5-hydroxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan 5-monooxygenase 1",
                    "type": "synonym"
                },
                {
                    "name": "tryptophan hydroxylase (tryptophan 5-monooxygenase)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPH1",
                    "type": "recommended"
                },
                {
                    "name": "TPH1",
                    "type": "synonym"
                },
                {
                    "name": "TPH",
                    "type": "synonym"
                },
                {
                    "name": "TPRH",
                    "type": "synonym"
                },
                {
                    "name": "TRPH",
                    "type": "synonym"
                }
            ],
            "record_id": "P17752-1",
            "evidence": [
                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35556-1",
            "uniprot_ac": "P35556",
            "uniprot_id": "FBN2_HUMAN",
            "refseq_ac": "NP_001990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-2",
                    "type": "recommended"
                },
                {
                    "name": "fibrillin 5",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-2 isoform 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBN2",
                    "type": "recommended"
                },
                {
                    "name": "CCA",
                    "type": "synonym"
                },
                {
                    "name": "DA9",
                    "type": "synonym"
                },
                {
                    "name": "EOMD",
                    "type": "synonym"
                },
                {
                    "name": "FBN2",
                    "type": "synonym"
                }
            ],
            "record_id": "P35556-1",
            "evidence": [
                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35555-1",
            "uniprot_ac": "P35555",
            "uniprot_id": "FBN1_HUMAN",
            "refseq_ac": "NP_000129",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibrillin-1",
                    "type": "recommended"
                },
                {
                    "name": "asprosin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin 15",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-1 isoform a preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "fibrillin-1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FBN1",
                    "type": "recommended"
                },
                {
                    "name": "ACMICD",
                    "type": "synonym"
                },
                {
                    "name": "ECTOL1",
                    "type": "synonym"
                },
                {
                    "name": "FBN1",
                    "type": "synonym"
                },
                {
                    "name": "FBN",
                    "type": "synonym"
                },
                {
                    "name": "GPHYSD2",
                    "type": "synonym"
                },
                {
                    "name": "MASS",
                    "type": "synonym"
                },
                {
                    "name": "MFLS",
                    "type": "synonym"
                },
                {
                    "name": "MFS1",
                    "type": "synonym"
                },
                {
                    "name": "OCTD",
                    "type": "synonym"
                },
                {
                    "name": "SGS",
                    "type": "synonym"
                },
                {
                    "name": "SSKS",
                    "type": "synonym"
                },
                {
                    "name": "WMS2",
                    "type": "synonym"
                },
                {
                    "name": "WMS",
                    "type": "synonym"
                }
            ],
            "record_id": "P35555-1",
            "evidence": [
                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95163-1",
            "uniprot_ac": "O95163",
            "uniprot_id": "ELP1_HUMAN",
            "refseq_ac": "NP_001305289",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Elongator complex protein 1",
                    "type": "recommended"
                },
                {
                    "name": "ELP1",
                    "type": "synonym"
                },
                {
                    "name": "IKK complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "IkappaB kinase complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "elongator complex protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "elongator complex protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ikappaB kinase complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein",
                    "type": "synonym"
                },
                {
                    "name": "p150",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ELP1",
                    "type": "recommended"
                },
                {
                    "name": "DYS",
                    "type": "synonym"
                },
                {
                    "name": "ELP1",
                    "type": "synonym"
                },
                {
                    "name": "FD",
                    "type": "synonym"
                },
                {
                    "name": "IKAP",
                    "type": "synonym"
                },
                {
                    "name": "IKBKAP",
                    "type": "synonym"
                },
                {
                    "name": "IKI3",
                    "type": "synonym"
                },
                {
                    "name": "TOT1",
                    "type": "synonym"
                }
            ],
            "record_id": "O95163-1",
            "evidence": [
                {
                    "id": "0060249",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060249"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060249"
}