{
    "disease_id": "DOID:0111268",
    "recommended_name": {
        "id": "DOID:0111268",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111268",
        "name": "autosomal recessive hyaline body myopathy",
        "description": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0111268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111268",
            "name": "MSMB",
            "description": ""
        },
        {
            "id": "DOID:0111268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111268",
            "name": "Myopathy, myosin storage, autosomal recessive",
            "description": ""
        },
        {
            "id": "DOID:0111268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111268",
            "name": "congenital myopathy 7B",
            "description": ""
        },
        {
            "id": "DOID:0111268",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111268",
            "name": "autosomal recessive myosin storage congenital myopathy 7B",
            "description": ""
        },
        {
            "id": "MONDO:0009708",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009708",
            "name": "myopathy, myosin storage, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009708",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009708",
            "name": "autosomal recessive myosin storage myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0009708",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009708",
            "name": "myopathy, myosin storage, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0009708",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009708",
            "name": "MSMB",
            "description": ""
        },
        {
            "id": "MIM:255160",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/255160",
            "name": "Congenital myopathy 7B, myosin storage, autosomal recessive",
            "description": "Congenital myopathy 7B, myosin storage, autosomal recessive"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111268"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111268",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111268",
            "categories": []
        },
        {
            "id": "MONDO:0009708",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009708",
            "categories": []
        },
        {
            "id": "MIM:255160",
            "database": "MIM",
            "url": "https://www.omim.org/entry/255160",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7H9-1",
            "uniprot_ac": "A0ACD6B7H9",
            "uniprot_id": "A0ACD6B7H9_DANRE",
            "refseq_ac": "XP_005162977",
            "glycoprotein": "no",
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Slow myosin heavy chain 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "slow myosin heavy chain 1 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "smyhc1",
                    "type": "recommended"
                },
                {
                    "name": "fb18g10",
                    "type": "synonym"
                },
                {
                    "name": "im:6897999",
                    "type": "synonym"
                },
                {
                    "name": "smyhc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb18g10",
                    "type": "synonym"
                }
            ],
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                    "id": "0111268",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M1NBP6-1",
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                    "name": "Danio rerio",
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                }
            ],
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                    "name": "Myosin-7",
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                {
                    "name": "Myosin heavy chain, cardiac muscle beta isoform",
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                },
                {
                    "name": "myosin heavy chain 7-like",
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                {
                    "name": "ventricular myosin heavy chain-like",
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                    "name": "myh7l",
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                {
                    "name": "Myh1",
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                },
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                    "name": "myh7l",
                    "type": "synonym"
                },
                {
                    "name": "vmhcl",
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                },
                {
                    "name": "zgc:113832",
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                },
                {
                    "name": "zgc:152732",
                    "type": "synonym"
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                    "name": "Myosin-7",
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                    "name": "ventricular myosin heavy chain",
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            ],
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                    "name": "myh7",
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                },
                {
                    "name": "hm:zeh0269",
                    "type": "synonym"
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                    "name": "mg:cb02g011",
                    "type": "synonym"
                },
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                    "name": "myh7",
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                {
                    "name": "smyhc3",
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                    "name": "vmhc",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q91Z83-1",
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            "refseq_ac": "NP_542766",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Myosin-7",
                    "type": "recommended"
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                    "name": "MyHC-beta",
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                {
                    "name": "Myosin heavy chain 7",
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                    "name": "Myosin heavy chain slow isoform",
                    "type": "synonym"
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                {
                    "name": "Myosin heavy chain, cardiac muscle beta isoform",
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                {
                    "name": "myosin heavy chain 7",
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                    "name": "myosin heavy chain, cardiac muscle, fetal",
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                    "name": "Myh7",
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                {
                    "name": "B-MHC",
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                    "name": "MYH-beta/slow",
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                },
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                    "name": "MyHC-I",
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                {
                    "name": "Myh7",
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                    "name": "Myhcb",
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                {
                    "name": "beta-MHC",
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                {
                    "name": "betaMHC",
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                    "name": "myHC-beta",
                    "type": "synonym"
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                    "name": "myHC-slow",
                    "type": "synonym"
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            ],
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                    "id": "0111268",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111268"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12883-1",
            "uniprot_ac": "P12883",
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            "refseq_ac": "NP_000248",
            "glycoprotein": "yes",
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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": "Myosin-7",
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                    "name": "MyHC-beta",
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                },
                {
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                {
                    "name": "cardiac muscle myosin heavy chain 7 beta",
                    "type": "synonym"
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                    "name": "myHC-beta",
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                    "name": "myhc-slow",
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                    "name": "myosin 7",
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                {
                    "name": "myosin heavy chain beta-subunit",
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                {
                    "name": "myosin, heavy chain 7, cardiac muscle, beta",
                    "type": "synonym"
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                {
                    "name": "myosin, heavy polypeptide 7, cardiac muscle, beta",
                    "type": "synonym"
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                {
                    "name": "myosin-7",
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                {
                    "name": "rhabdomyosarcoma antigen MU-RMS-40.7A",
                    "type": "synonym"
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                    "name": "MYH7",
                    "type": "recommended"
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                {
                    "name": "CMD1S",
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                },
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                    "name": "CMH1",
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                    "name": "CMYO7A",
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                {
                    "name": "CMYP7A",
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                {
                    "name": "CMYP7B",
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                {
                    "name": "MPD1",
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                    "name": "MYH7",
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                    "name": "MYHCB",
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                    "name": "SPMD",
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                    "name": "SPMM",
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                    "id": "0111268",
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            "uniprot_canonical_ac": "P08964-1",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
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                    "name": "Myosin-1",
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                    "name": "MYO1",
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            "uniprot_canonical_ac": "P02564-1",
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                    "name": "Rattus norvegicus",
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                    "glygen_name": "Rat",
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                }
            ],
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                    "name": "Myosin-7",
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                    "name": "Myosin heavy chain, cardiac muscle beta isoform",
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                    "name": "beta myosin heavy chain",
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                    "name": "myosin heavy chain polypeptide 7 cardiac muscle fetal",
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                    "name": "Myhcb",
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            "uniprot_canonical_ac": "P05661-3",
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                {
                    "name": "Drosophila melanogaster",
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                    "name": "Myosin heavy chain, muscle",
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                    "name": "CG17927-PO",
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                    "name": "Mhc-PO",
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                {
                    "name": "Not-upheld",
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                    "name": "Shrunken-thorax",
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                {
                    "name": "beta-myosin heavy chain",
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                    "name": "indirect flight muscle (2) RU1",
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                    "name": "indirect flight muscle (2) RU2",
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                {
                    "name": "muscle myosin II heavy chain",
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                    "name": "muscle specific myosin II",
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                    "name": "myosin HC",
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                {
                    "name": "myosin heavy Chain-PF",
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                {
                    "name": "myosin heavy chain, isoform O",
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                    "name": "myosin heavy chain",
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                {
                    "name": "myosin heavy-chain protein",
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                    "name": "myosin rod protein",
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                {
                    "name": "myosin-heavy chain",
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                {
                    "name": "samba",
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                {
                    "name": "sarcomeric myosin heavy-chain",
                    "type": "synonym"
                },
                {
                    "name": "shrunken thorax",
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                {
                    "name": "stuckup",
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                    "name": "Mhc",
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                    "name": "Bsh",
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                    "name": "DROMHC",
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                    "name": "Dm II",
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                {
                    "name": "DmMHC",
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                    "name": "Dmel\\CG17927",
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                    "name": "DroMII",
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                {
                    "name": "Ifm(2)RU1",
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                },
                {
                    "name": "MHC",
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                {
                    "name": "MRP",
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                    "name": "Mhc36B",
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                {
                    "name": "Mhc",
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                {
                    "name": "Mrp",
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                {
                    "name": "MyHC",
                    "type": "synonym"
                },
                {
                    "name": "Myo6",
                    "type": "synonym"
                },
                {
                    "name": "Myosin",
                    "type": "synonym"
                },
                {
                    "name": "Myo",
                    "type": "synonym"
                },
                {
                    "name": "Nup",
                    "type": "synonym"
                },
                {
                    "name": "Sht",
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                },
                {
                    "name": "Stp",
                    "type": "synonym"
                },
                {
                    "name": "chr2L:16765388..16765564",
                    "type": "synonym"
                },
                {
                    "name": "chr2L:16781880..16782040",
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                },
                {
                    "name": "ifm(2)2",
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                {
                    "name": "ifm(2)RU1",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)RU2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)36Ae",
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                },
                {
                    "name": "l(2)M66",
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                {
                    "name": "l(2)k10423",
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                },
                {
                    "name": "mMHC",
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                },
                {
                    "name": "mhc",
                    "type": "synonym"
                },
                {
                    "name": "sMHC",
                    "type": "synonym"
                }
            ],
            "record_id": "P05661-3",
            "evidence": [
                {
                    "id": "0111268",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111268"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111268"
}