{
    "disease_id": "DOID:0080094",
    "recommended_name": {
        "id": "DOID:0080094",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080094",
        "name": "myofibrillar myopathy 3",
        "description": "A myofibrillar myopathy that has_material_basis_in heterozygous mutation in the MYOT gene on chromosome 5q31."
    },
    "synonyms": [
        {
            "id": "DOID:0080094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080094",
            "name": "myotilinopathy",
            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080094",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1A",
            "description": ""
        },
        {
            "id": "DOID:0080094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080094",
            "name": "LGMD 1A",
            "description": ""
        },
        {
            "id": "DOID:0080094",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080094",
            "name": "spheroid body myopathy",
            "description": ""
        },
        {
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            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080094",
            "name": "LGMD1A",
            "description": ""
        },
        {
            "id": "MONDO:0012215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012215",
            "name": "myofibrillar myopathy 3",
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        },
        {
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            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012215",
            "name": "LGMD1A",
            "description": ""
        },
        {
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            "resource": "MONDO",
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            "name": "MYOT autosomal dominant distal myopathy",
            "description": ""
        },
        {
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            "url": "https://monarchinitiative.org/disease/MONDO:0012215",
            "name": "MYOT autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012215",
            "resource": "MONDO",
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        },
        {
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            "description": ""
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        },
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            "description": ""
        },
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            "id": "MONDO:0012215",
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        {
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            "description": ""
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            "description": ""
        },
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            "description": ""
        },
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        },
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            "description": ""
        },
        {
            "id": "MONDO:0012215",
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            "description": ""
        },
        {
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        {
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        },
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            "description": ""
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        {
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            "description": ""
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            "id": "MONDO:0012215",
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            "description": ""
        },
        {
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        },
        {
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            "description": ""
        },
        {
            "id": "MONDO:0012215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012215",
            "name": "MYOT autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0012215",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012215",
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        {
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        {
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            "description": ""
        },
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        },
        {
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        {
            "id": "MONDO:0012215",
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            "name": "myopathy, myofibrillar, 3",
            "description": ""
        },
        {
            "id": "MIM:609200",
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            "url": "https://www.omim.org/entry/609200",
            "name": "Myopathy, myofibrillar, 3",
            "description": "Myopathy, myofibrillar, 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080094"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080094",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080094",
            "categories": []
        },
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            "categories": []
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            "id": "MIM:609200",
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            "url": "https://www.omim.org/entry/609200",
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        }
    ],
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        {
            "uniprot_canonical_ac": "Q9JIF9-1",
            "uniprot_ac": "Q9JIF9",
            "uniprot_id": "MYOTI_MOUSE",
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            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Myotilin",
                    "type": "recommended"
                },
                {
                    "name": "Myofibrillar titin-like Ig domains protein",
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                {
                    "name": "Titin immunoglobulin domain protein",
                    "type": "synonym"
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                {
                    "name": "myofibrillar titin-like Ig domains protein",
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                {
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                {
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                    "name": "Myot",
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                    "name": "5530402I04Rik",
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                {
                    "name": "Myo",
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                {
                    "name": "Ttid",
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                }
            ],
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
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                    "name": "57 kDa cytoskeletal protein",
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                    "name": "Myofibrillar titin-like Ig domains protein",
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                {
                    "name": "Titin immunoglobulin domain protein",
                    "type": "synonym"
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                {
                    "name": "myofibrillar titin-like Ig domains protein",
                    "type": "synonym"
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                {
                    "name": "myotilin isoform b",
                    "type": "synonym"
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                {
                    "name": "titin immunoglobulin domain protein (myotilin)",
                    "type": "synonym"
                }
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                    "name": "MYOT",
                    "type": "recommended"
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                {
                    "name": "LGMD1A",
                    "type": "synonym"
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                {
                    "name": "LGMD1",
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                {
                    "name": "MFM3",
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                {
                    "name": "MYOT",
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                {
                    "name": "TTID",
                    "type": "synonym"
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                {
                    "name": "TTOD",
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                }
            ],
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                    "url": "https://www.omim.org/entry/609200"
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            "uniprot_ac": "M0RCF7",
            "uniprot_id": "M0RCF7_RAT",
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            "glycoprotein": "no",
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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": "Myotilin",
                    "type": "recommended"
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                {
                    "name": "Myofibrillar titin-like Ig domains protein",
                    "type": "synonym"
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                    "name": "Titin immunoglobulin domain protein",
                    "type": "synonym"
                },
                {
                    "name": "myotilin isoform 1",
                    "type": "synonym"
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                {
                    "name": "titin immunoglobulin domain protein (myotilin)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myot",
                    "type": "recommended"
                },
                {
                    "name": "LOC100909899",
                    "type": "synonym"
                },
                {
                    "name": "Myot",
                    "type": "synonym"
                },
                {
                    "name": "Ttid",
                    "type": "synonym"
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            ],
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                    "id": "0080094",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9I7U4-1",
            "uniprot_ac": "Q9I7U4",
            "uniprot_id": "TITIN_DROME",
            "refseq_ac": "NP_524676",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Titin",
                    "type": "recommended"
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                {
                    "name": "CG1915-PA",
                    "type": "synonym"
                },
                {
                    "name": "D-Titin/Kettin",
                    "type": "synonym"
                },
                {
                    "name": "D-Titin",
                    "type": "synonym"
                },
                {
                    "name": "D-titan",
                    "type": "synonym"
                },
                {
                    "name": "D-titin-KZ",
                    "type": "synonym"
                },
                {
                    "name": "D-titin",
                    "type": "synonym"
                },
                {
                    "name": "Kettin",
                    "type": "synonym"
                },
                {
                    "name": "dtitin",
                    "type": "synonym"
                },
                {
                    "name": "kettin",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S002001",
                    "type": "synonym"
                },
                {
                    "name": "lethal(3)62Ca",
                    "type": "synonym"
                },
                {
                    "name": "mitotic chromosomal protein",
                    "type": "synonym"
                },
                {
                    "name": "salimus",
                    "type": "synonym"
                },
                {
                    "name": "sallimus, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "sallimus",
                    "type": "synonym"
                },
                {
                    "name": "sls-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sls",
                    "type": "recommended"
                },
                {
                    "name": "0020/01",
                    "type": "synonym"
                },
                {
                    "name": "01",
                    "type": "synonym"
                },
                {
                    "name": "CG18242",
                    "type": "synonym"
                },
                {
                    "name": "CG18245",
                    "type": "synonym"
                },
                {
                    "name": "CG18857",
                    "type": "synonym"
                },
                {
                    "name": "CG1915",
                    "type": "synonym"
                },
                {
                    "name": "CT41299",
                    "type": "synonym"
                },
                {
                    "name": "D-Titin",
                    "type": "synonym"
                },
                {
                    "name": "D-titin",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1915",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1915",
                    "type": "synonym"
                },
                {
                    "name": "KZ",
                    "type": "synonym"
                },
                {
                    "name": "Kettin",
                    "type": "synonym"
                },
                {
                    "name": "Ket",
                    "type": "synonym"
                },
                {
                    "name": "MCP",
                    "type": "synonym"
                },
                {
                    "name": "SLS",
                    "type": "synonym"
                },
                {
                    "name": "Sls",
                    "type": "synonym"
                },
                {
                    "name": "TITIN",
                    "type": "synonym"
                },
                {
                    "name": "Titin",
                    "type": "synonym"
                },
                {
                    "name": "anon-CREST",
                    "type": "synonym"
                },
                {
                    "name": "d-titin",
                    "type": "synonym"
                },
                {
                    "name": "kettin",
                    "type": "synonym"
                },
                {
                    "name": "ket",
                    "type": "synonym"
                },
                {
                    "name": "l(3)62Ca",
                    "type": "synonym"
                },
                {
                    "name": "l(3)Ca",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S002001",
                    "type": "synonym"
                },
                {
                    "name": "l(3)dre8",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j1D7",
                    "type": "synonym"
                },
                {
                    "name": "l(3)rL182",
                    "type": "synonym"
                },
                {
                    "name": "sal",
                    "type": "synonym"
                },
                {
                    "name": "sam",
                    "type": "synonym"
                },
                {
                    "name": "sls/kettin",
                    "type": "synonym"
                },
                {
                    "name": "sls",
                    "type": "synonym"
                },
                {
                    "name": "titin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9I7U4-1",
            "evidence": [
                {
                    "id": "0080094",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080094"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080094"
}