{
    "disease_id": "DOID:0111783",
    "recommended_name": {
        "id": "DOID:0111783",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111783",
        "name": "otopalatodigital syndrome type 1",
        "description": "An otopalatodigital syndrome spectrum disorder characterized by cleft palate, mild skeletal anomalies including digital anomalies, and conductive deafness caused by ossicular anomalies that has_material_basis_in heterozygous or hemizygous mutation in exon 3, 4, or 5 of the FLNA gene on chromosome Xq28."
    },
    "synonyms": [
        {
            "id": "DOID:0111783",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111783",
            "name": "OPD I syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111783",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111783",
            "name": "OPD syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0111783",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111783",
            "name": "OPD1",
            "description": ""
        },
        {
            "id": "DOID:0111783",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111783",
            "name": "Taybi syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111783",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111783",
            "name": "oto-palato-digital syndrome type 1",
            "description": ""
        },
        {
            "id": "DOID:0111783",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111783",
            "name": "otopalatodigital syndrome type I",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "otopalatodigital syndrome type 1",
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        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "OPD 1 syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "OPD I syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "OPD syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "OPD1",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "Taybi syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "oto-palato-digital syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
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            "name": "otopalatodigital syndrome, type 1",
            "description": ""
        },
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            "id": "MONDO:0010704",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "otopalatodigital syndrome, type I",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "otopalatodigital syndrome, type I, X-linked dominant",
            "description": ""
        },
        {
            "id": "MONDO:0010704",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "name": "OPD syndrome",
            "description": ""
        },
        {
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/311300",
            "name": "Otopalatodigital syndrome 1",
            "description": "Otopalatodigital syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
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    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111783",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111783",
            "categories": []
        },
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            "id": "MONDO:0010704",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010704",
            "categories": []
        },
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            "id": "MIM:311300",
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            "url": "https://www.omim.org/entry/311300",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M3AYA1",
            "uniprot_id": "A0A8M3AYA1_DANRE",
            "refseq_ac": "XP_009295045",
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                    "taxid": 7955,
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                }
            ],
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                {
                    "name": "Filamin-A isoform X1",
                    "type": "synonym"
                },
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                    "name": "filamin-A isoform X1",
                    "type": "synonym"
                }
            ],
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                    "type": "recommended"
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            ],
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                },
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                    "name": "dilated pupils 2",
                    "type": "synonym"
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                {
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                    "name": "Flna",
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                    "name": "Dilp2",
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                },
                {
                    "name": "F730004A14Rik",
                    "type": "synonym"
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                    "name": "Fln1",
                    "type": "synonym"
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                    "name": "Flna",
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                    "name": "Fln",
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                },
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                    "name": "GENA 379",
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            ],
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                },
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                    "name": "Alpha-filamin",
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                    "name": "Endothelial actin-binding protein",
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                    "name": "actin binding protein 280",
                    "type": "synonym"
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                {
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                {
                    "name": "epididymis secretory sperm binding protein",
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                    "name": "CSBS",
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                    "name": "CVD1",
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                {
                    "name": "FGS2",
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                    "name": "FMD",
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                    "name": "MNS",
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                    "name": "NHBP",
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                    "name": "OPD1",
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                {
                    "name": "OPD2",
                    "type": "synonym"
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                    "name": "OPD",
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                    "name": "XLVD",
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                    "name": "XMVD",
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                    "name": "Salivary protein 1",
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                    "name": "salivary protein 1 precursor",
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                    "name": "Drosophila melanogaster",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111783"
}
