{
    "disease_id": "DOID:0080096",
    "recommended_name": {
        "id": "DOID:0080096",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080096",
        "name": "myofibrillar myopathy 5",
        "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the FLNC gene on chromosome 7q32."
    },
    "synonyms": [
        {
            "id": "DOID:0080096",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080096",
            "name": "filaminopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "name": "myofibrillar myopathy 5",
            "description": "Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases."
        },
        {
            "id": "MONDO:0012289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "name": "FLNC myofibrillar myopathy (disease)",
            "description": ""
        },
        {
            "id": "MONDO:0012289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "name": "myofibrillar myopathy (disease) caused by mutation in FLNC",
            "description": ""
        },
        {
            "id": "MONDO:0012289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "name": "myofibrillar myopathy 5",
            "description": ""
        },
        {
            "id": "MONDO:0012289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "name": "myofibrillar myopathy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "name": "myopathy, myofibrillar, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0012289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "name": "MFM5",
            "description": ""
        },
        {
            "id": "MONDO:0012289",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "name": "myopathy, myofibrillar, 5",
            "description": ""
        },
        {
            "id": "MIM:609524",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/609524",
            "name": "Myopathy, myofibrillar, 5",
            "description": "Myopathy, myofibrillar, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080096"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080096",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080096",
            "categories": []
        },
        {
            "id": "MONDO:0012289",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012289",
            "categories": []
        },
        {
            "id": "MIM:609524",
            "database": "MIM",
            "url": "https://www.omim.org/entry/609524",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0AC58IZ27",
            "uniprot_id": "A0AC58IZ27_DANRE",
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            "glycoprotein": "no",
            "species": [
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-C isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "flnca",
                    "type": "recommended"
                },
                {
                    "name": "flnca",
                    "type": "synonym"
                }
            ],
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                }
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                {
                    "name": "Filamin-C isoform X1",
                    "type": "synonym"
                },
                {
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                }
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                    "type": "recommended"
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                }
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                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
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            ]
        },
        {
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            "uniprot_ac": "Q8VHX6",
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            "refseq_ac": "NP_001074654",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Filamin-C",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "ABP-L",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-C",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-2",
                    "type": "synonym"
                },
                {
                    "name": "Gamma-filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin-2",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "filamin-C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Flnc",
                    "type": "recommended"
                },
                {
                    "name": "1110055E19Rik",
                    "type": "synonym"
                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
                },
                {
                    "name": "ABPL",
                    "type": "synonym"
                },
                {
                    "name": "Abpl",
                    "type": "synonym"
                },
                {
                    "name": "Fln2",
                    "type": "synonym"
                },
                {
                    "name": "Flnc",
                    "type": "synonym"
                }
            ],
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            ]
        },
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            "uniprot_canonical_ac": "Q8BTM8-1",
            "uniprot_ac": "Q8BTM8",
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                }
            ],
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                    "name": "Actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-filamin",
                    "type": "synonym"
                },
                {
                    "name": "Endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "FLN-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-1",
                    "type": "synonym"
                },
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                    "name": "Non-muscle filamin",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding protein 280",
                    "type": "synonym"
                },
                {
                    "name": "dilated pupils 2",
                    "type": "synonym"
                },
                {
                    "name": "endothelial actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "filamin-A isoform 3",
                    "type": "synonym"
                },
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                    "name": "filamin-A",
                    "type": "synonym"
                },
                {
                    "name": "non-muscle filamin",
                    "type": "synonym"
                }
            ],
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                    "name": "Flna",
                    "type": "recommended"
                },
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                    "name": "ABP-280",
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                },
                {
                    "name": "Dilp2",
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                },
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                    "name": "F730004A14Rik",
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                },
                {
                    "name": "Fln1",
                    "type": "synonym"
                },
                {
                    "name": "Flna",
                    "type": "synonym"
                },
                {
                    "name": "Fln",
                    "type": "synonym"
                },
                {
                    "name": "GENA 379",
                    "type": "synonym"
                },
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                    "name": "filamin-1",
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                    "id": "0080096",
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                }
            ],
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                    "name": "Filamin-B",
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                    "name": "Actin-binding-like protein",
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                    "name": "Homo sapiens",
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            ],
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                    "name": "Filamin B",
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            "uniprot_ac": "P52020",
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            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Squalene monooxygenase",
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                },
                {
                    "name": "1.14.14.17",
                    "type": "synonym"
                },
                {
                    "name": "SE",
                    "type": "synonym"
                },
                {
                    "name": "Squalene epoxidase",
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                {
                    "name": "squalene monooxygenase",
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            ],
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                {
                    "name": "Sqle",
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                {
                    "name": "Erg1",
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                {
                    "name": "Sqle",
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            ],
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                    "id": "0080096",
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                }
            ],
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                {
                    "name": "Salivary protein 1",
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                },
                {
                    "name": "salivary protein 1 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Spt1",
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                {
                    "name": "LOC102555445",
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                },
                {
                    "name": "LOC134479615",
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                {
                    "name": "Spt1l1",
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                {
                    "name": "Spt1",
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                }
            ],
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                    "id": "0080096",
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            ]
        },
        {
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Filamin-A",
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                    "name": "ABP-280",
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                {
                    "name": "Actin-binding protein 280",
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                {
                    "name": "CG3937-PK",
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                {
                    "name": "FLN-A",
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                {
                    "name": "Filamin-1",
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                },
                {
                    "name": "Filamin-A",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-B",
                    "type": "synonym"
                },
                {
                    "name": "Filamin1",
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                {
                    "name": "cheerio, isoform K",
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                },
                {
                    "name": "cheerio",
                    "type": "synonym"
                },
                {
                    "name": "cher-PK",
                    "type": "synonym"
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                {
                    "name": "cherrio",
                    "type": "synonym"
                },
                {
                    "name": "filamin B",
                    "type": "synonym"
                },
                {
                    "name": "filamin isoform B",
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                {
                    "name": "filamin-240",
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                {
                    "name": "shi kong",
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                }
            ],
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                    "name": "cher",
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                {
                    "name": "CG3937",
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                },
                {
                    "name": "Cheerio",
                    "type": "synonym"
                },
                {
                    "name": "Cher",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3937",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3937",
                    "type": "synonym"
                },
                {
                    "name": "FLN90",
                    "type": "synonym"
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                {
                    "name": "FLN",
                    "type": "synonym"
                },
                {
                    "name": "Fil",
                    "type": "synonym"
                },
                {
                    "name": "cheerio",
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                },
                {
                    "name": "cher",
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                },
                {
                    "name": "dFil",
                    "type": "synonym"
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                {
                    "name": "filamin",
                    "type": "synonym"
                },
                {
                    "name": "joy",
                    "type": "synonym"
                },
                {
                    "name": "sko",
                    "type": "synonym"
                }
            ],
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                    "id": "0080096",
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                }
            ]
        },
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            "uniprot_ac": "O75369",
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                {
                    "name": "Homo sapiens",
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            ],
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                    "name": "Filamin-B",
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                    "name": "ABP-278",
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                {
                    "name": "ABP-280 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Actin-binding-like protein",
                    "type": "synonym"
                },
                {
                    "name": "Beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "Fh1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "Filamin-3",
                    "type": "synonym"
                },
                {
                    "name": "Larsen syndrome 1 (autosomal dominant)",
                    "type": "synonym"
                },
                {
                    "name": "Thyroid autoantigen",
                    "type": "synonym"
                },
                {
                    "name": "Truncated ABP",
                    "type": "synonym"
                },
                {
                    "name": "Truncated actin-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "actin binding protein 278",
                    "type": "synonym"
                },
                {
                    "name": "actin-binding-like protein",
                    "type": "synonym"
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                {
                    "name": "beta-filamin",
                    "type": "synonym"
                },
                {
                    "name": "filamin B, beta",
                    "type": "synonym"
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                {
                    "name": "filamin homolog 1",
                    "type": "synonym"
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                {
                    "name": "filamin-3",
                    "type": "synonym"
                },
                {
                    "name": "filamin-B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "thyroid autoantigen",
                    "type": "synonym"
                }
            ],
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                    "name": "FLNB",
                    "type": "recommended"
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                    "name": "ABP-278",
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                },
                {
                    "name": "ABP-280",
                    "type": "synonym"
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                {
                    "name": "FH1",
                    "type": "synonym"
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                {
                    "name": "FLN-B",
                    "type": "synonym"
                },
                {
                    "name": "FLN1L",
                    "type": "synonym"
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                {
                    "name": "FLN3",
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                {
                    "name": "FLNB",
                    "type": "synonym"
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                {
                    "name": "LRS1",
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                {
                    "name": "TABP",
                    "type": "synonym"
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                {
                    "name": "TAP",
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            ],
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                    "id": "0080096",
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            ],
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                {
                    "name": "Actin-binding protein 280",
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                },
                {
                    "name": "Alpha-filamin",
                    "type": "synonym"
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                {
                    "name": "Endothelial actin-binding protein",
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                {
                    "name": "FLN-A",
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                {
                    "name": "Filamin-1",
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                {
                    "name": "Non-muscle filamin",
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                },
                {
                    "name": "actin binding protein 280",
                    "type": "synonym"
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                {
                    "name": "alpha-filamin",
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                },
                {
                    "name": "endothelial actin-binding protein",
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                {
                    "name": "epididymis secretory sperm binding protein",
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                {
                    "name": "filamin A, alpha",
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                {
                    "name": "filamin-1",
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                {
                    "name": "filamin-A isoform 2",
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                {
                    "name": "non-muscle filamin",
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            ],
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                    "name": "FLNA",
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                {
                    "name": "ABP-280",
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                },
                {
                    "name": "ABPX",
                    "type": "synonym"
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                {
                    "name": "CSBS",
                    "type": "synonym"
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                {
                    "name": "CVD1",
                    "type": "synonym"
                },
                {
                    "name": "FGS2",
                    "type": "synonym"
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                {
                    "name": "FLN-A",
                    "type": "synonym"
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                {
                    "name": "FLN1",
                    "type": "synonym"
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                {
                    "name": "FLNA",
                    "type": "synonym"
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                {
                    "name": "FLN",
                    "type": "synonym"
                },
                {
                    "name": "FMD",
                    "type": "synonym"
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                {
                    "name": "MNS",
                    "type": "synonym"
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                {
                    "name": "NHBP",
                    "type": "synonym"
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                {
                    "name": "OPD1",
                    "type": "synonym"
                },
                {
                    "name": "OPD2",
                    "type": "synonym"
                },
                {
                    "name": "OPD",
                    "type": "synonym"
                },
                {
                    "name": "XLVD",
                    "type": "synonym"
                },
                {
                    "name": "XMVD",
                    "type": "synonym"
                }
            ],
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                    "id": "0080096",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080096"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080096"
}