{
    "disease_id": "DOID:0050331",
    "recommended_name": {
        "id": "DOID:0050331",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050331",
        "name": "lacrimoauriculodentodigital syndrome 1",
        "description": "A syndrome that has_material_basis_in heterozygous mutation in the tyrosine kinase domain of the FGFR2 gene on chromosome 10q26 and that is characterized by autosomal dominant inheritance of abnormalities affecting the lacrimal and salivary glands and ducts, ears, teeth and fingers and toes."
    },
    "synonyms": [
        {
            "id": "DOID:0050331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050331",
            "name": "LEVY-HOLLISTER SYNDROME",
            "description": ""
        },
        {
            "id": "DOID:0050331",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050331",
            "name": "Lacrimo-auriculo-dento-digital syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0100302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100302",
            "name": "LADD syndrome 1",
            "description": "Any LADD syndrome in which the cause of the disease is a variation in the FGFR2 gene."
        },
        {
            "id": "MONDO:0100302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100302",
            "name": "LADD1",
            "description": ""
        },
        {
            "id": "MONDO:0100302",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100302",
            "name": "lacrimoauriculodentodigital syndrome 1",
            "description": ""
        },
        {
            "id": "MIM:149730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/149730",
            "name": "Lacrimo-auriculo-dento-digital syndrome 1",
            "description": "Lacrimo-auriculo-dento-digital syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0050331"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050331",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050331",
            "categories": []
        },
        {
            "id": "MONDO:0100302",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0100302",
            "categories": []
        },
        {
            "id": "MIM:149730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/149730",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": [
                {
                    "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",
            "evidence": [
                {
                    "id": "0050331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O35565-1",
            "uniprot_ac": "O35565",
            "uniprot_id": "FGF10_MOUSE",
            "refseq_ac": "NP_032028",
            "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 10",
                    "type": "recommended"
                },
                {
                    "name": "FGF-10",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte growth factor 2",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 5a",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte growth factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgf10",
                    "type": "recommended"
                },
                {
                    "name": "AEY17",
                    "type": "synonym"
                },
                {
                    "name": "Fgf-10",
                    "type": "synonym"
                },
                {
                    "name": "Fgf10",
                    "type": "synonym"
                },
                {
                    "name": "Fgf5a",
                    "type": "synonym"
                },
                {
                    "name": "Gsfaey17",
                    "type": "synonym"
                }
            ],
            "record_id": "O35565-1",
            "evidence": [
                {
                    "id": "0050331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050331"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "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"
                }
            ],
            "record_id": "P21803-1",
            "evidence": [
                {
                    "id": "0050331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P21802-1",
            "uniprot_ac": "P21802",
            "uniprot_id": "FGFR2_HUMAN",
            "refseq_ac": "NP_000132",
            "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 2",
                    "type": "recommended"
                },
                {
                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "BEK fibroblast growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "FGFR-2",
                    "type": "synonym"
                },
                {
                    "name": "K-sam",
                    "type": "synonym"
                },
                {
                    "name": "KGFR",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "bacteria-expressed kinase",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor receptor 2 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte growth factor receptor",
                    "type": "synonym"
                },
                {
                    "name": "protein tyrosine kinase, receptor like 14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGFR2",
                    "type": "recommended"
                },
                {
                    "name": "BBDS",
                    "type": "synonym"
                },
                {
                    "name": "BEK",
                    "type": "synonym"
                },
                {
                    "name": "BFR-1",
                    "type": "synonym"
                },
                {
                    "name": "CD332",
                    "type": "synonym"
                },
                {
                    "name": "CEK3",
                    "type": "synonym"
                },
                {
                    "name": "CFD1",
                    "type": "synonym"
                },
                {
                    "name": "ECT1",
                    "type": "synonym"
                },
                {
                    "name": "FGFR2",
                    "type": "synonym"
                },
                {
                    "name": "JWS",
                    "type": "synonym"
                },
                {
                    "name": "K-SAM",
                    "type": "synonym"
                },
                {
                    "name": "KGFR",
                    "type": "synonym"
                },
                {
                    "name": "KSAM",
                    "type": "synonym"
                },
                {
                    "name": "TK14",
                    "type": "synonym"
                },
                {
                    "name": "TK25",
                    "type": "synonym"
                }
            ],
            "record_id": "P21802-1",
            "evidence": [
                {
                    "id": "149730",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/149730"
                },
                {
                    "id": "0050331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LSG7-1",
            "uniprot_ac": "F1LSG7",
            "uniprot_id": "F1LSG7_RAT",
            "refseq_ac": "NP_036844",
            "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 2 isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Fgfr2",
                    "type": "recommended"
                },
                {
                    "name": "Fgfr2",
                    "type": "synonym"
                },
                {
                    "name": "KGFR",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LSG7-1",
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                {
                    "id": "0050331",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70492-1",
            "uniprot_ac": "P70492",
            "uniprot_id": "FGF10_RAT",
            "refseq_ac": "NP_037083",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Fibroblast growth factor 10",
                    "type": "recommended"
                },
                {
                    "name": "FGF-10",
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                },
                {
                    "name": "fibroblast growth factor 10 precursor",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 5a",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Fgf10",
                    "type": "recommended"
                },
                {
                    "name": "FGF-10",
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                },
                {
                    "name": "Fgf10",
                    "type": "synonym"
                },
                {
                    "name": "Fgf5a",
                    "type": "synonym"
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                {
                    "id": "0050331",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11685-1",
            "uniprot_ac": "P11685",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Surfactant protein C",
                    "type": "recommended"
                },
                {
                    "name": "Pulmonary surfactant-associated protein C",
                    "type": "synonym"
                },
                {
                    "name": "Pulmonary surfactant-associated proteolipid SPL(Val)",
                    "type": "synonym"
                },
                {
                    "name": "SP-C",
                    "type": "synonym"
                },
                {
                    "name": "Surfactant, pulmonary-associated protein C",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated protein C",
                    "type": "synonym"
                },
                {
                    "name": "pulmonary surfactant-associated proteolipid SPL(Val)",
                    "type": "synonym"
                },
                {
                    "name": "surfactant associated protein C",
                    "type": "synonym"
                },
                {
                    "name": "surfactant protein C",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Sftpc",
                    "type": "recommended"
                },
                {
                    "name": "SP-C",
                    "type": "synonym"
                },
                {
                    "name": "Sftp2",
                    "type": "synonym"
                },
                {
                    "name": "Sftpc",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0050331",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050331"
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            ]
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        {
            "uniprot_canonical_ac": "Q62668-1",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Urea transporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 14 member 2",
                    "type": "synonym"
                },
                {
                    "name": "Urea transporter, kidney",
                    "type": "synonym"
                },
                {
                    "name": "plasma membrane urea transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 14 (urea transporter), member 2T",
                    "type": "synonym"
                },
                {
                    "name": "testName",
                    "type": "synonym"
                },
                {
                    "name": "urea transport protein",
                    "type": "synonym"
                },
                {
                    "name": "urea transporter 2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "urea transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "urea transporter UT-A2c",
                    "type": "synonym"
                },
                {
                    "name": "urea transporter UT-A2d",
                    "type": "synonym"
                },
                {
                    "name": "urea transporter, kidney",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Slc14a2",
                    "type": "recommended"
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                {
                    "name": "Slc14a2T",
                    "type": "synonym"
                },
                {
                    "name": "Slc14a2_v4",
                    "type": "synonym"
                },
                {
                    "name": "Slc14a2",
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                },
                {
                    "name": "UrT1-C",
                    "type": "synonym"
                },
                {
                    "name": "UrT1-D",
                    "type": "synonym"
                },
                {
                    "name": "Ut2",
                    "type": "synonym"
                },
                {
                    "name": "testSymbol",
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                }
            ],
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                    "id": "0050331",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0050331"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q09147-1",
            "uniprot_ac": "Q09147",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Fibroblast growth factor receptor homolog 2",
                    "type": "recommended"
                },
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                    "name": "2.7.10.1",
                    "type": "synonym"
                },
                {
                    "name": "CG32134-PB",
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                },
                {
                    "name": "FGF receptor",
                    "type": "synonym"
                },
                {
                    "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",
                    "type": "synonym"
                },
                {
                    "name": "breathless",
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                },
                {
                    "name": "btl-PB",
                    "type": "synonym"
                },
                {
                    "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": [
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                    "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",
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                    "name": "dtk2",
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                {
                    "name": "fgf-r",
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                    "name": "l(3)00208",
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                {
                    "name": "l(3)j2E11",
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                    "id": "0050331",
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                {
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                {
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                {
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                    "name": "htl-PB",
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                    "name": "CT22273",
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                    "name": "CT39172",
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                    "name": "DFGF-R1",
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                    "name": "DFGF-R2",
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                {
                    "name": "DFR1",
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                    "name": "DPR3",
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                    "name": "DTRK(FR1)",
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                {
                    "name": "Dfr-1",
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                {
                    "name": "Dfr1",
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                    "name": "FR1",
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                    "name": "Htl",
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                    "name": "Tk1",
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                    "name": "dtk1",
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                    "name": "i100",
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                {
                    "name": "i150",
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                {
                    "name": "i79",
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                {
                    "name": "j372",
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                    "id": "0050331",
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    "record_id": "doid.0050331"
}