{
    "disease_id": "DOID:0110273",
    "recommended_name": {
        "id": "DOID:0110273",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110273",
        "name": "autosomal dominant limb-girdle muscular dystrophy",
        "description": "A limb-girdle muscular dystrophy that has_material_basis_in autosomal dominant inheritance."
    },
    "synonyms": [
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)",
            "description": "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3."
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "DNAJB6 autosomal dominant limb-girdle muscular dystrophy",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1D (DNAJB6)",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, autosomal dominant 1",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "LGMD1E (Bushby and Beckmann, 2003)",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "autosomal dominant limb-girdle muscular dystrophy type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "limb-girdle muscular dystrophy type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy limb-girdle type 1E",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, type 1D",
            "description": ""
        },
        {
            "id": "MONDO:0021018",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "name": "muscular dystrophy, limb-girdle, type 1E",
            "description": ""
        },
        {
            "id": "MIM:603511",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/603511",
            "name": "Muscular dystrophy, limb-girdle, autosomal dominant 1",
            "description": "Muscular dystrophy, limb-girdle, autosomal dominant 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0110304",
            "label": "autosomal dominant limb-girdle muscular dystrophy type 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110305",
            "label": "autosomal dominant limb-girdle muscular dystrophy type 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0110306",
            "label": "autosomal dominant limb-girdle muscular dystrophy type 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0110304",
        "DOID:0110273",
        "DOID:0110305",
        "DOID:0110306"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110273",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110273",
            "categories": []
        },
        {
            "id": "MONDO:0021018",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0021018",
            "categories": []
        },
        {
            "id": "MIM:603511",
            "database": "MIM",
            "url": "https://www.omim.org/entry/603511",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M6Z1H5-1",
            "uniprot_ac": "A0A8M6Z1H5",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Calpain-3",
                    "type": "recommended"
                },
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                    "name": "3.4.22.54",
                    "type": "synonym"
                },
                {
                    "name": "calpain-3 isoform X1",
                    "type": "synonym"
                }
            ],
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                    "name": "capn3a",
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                {
                    "name": "capn3a",
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                },
                {
                    "name": "capn3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92687",
                    "type": "synonym"
                }
            ],
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                    "id": "0110273",
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        },
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                    "name": "Danio rerio",
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                }
            ],
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                {
                    "name": "Calpain-3",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.54",
                    "type": "synonym"
                },
                {
                    "name": "calpain-3b",
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                    "name": "capn3b",
                    "type": "recommended"
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                    "name": "capn3b",
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                {
                    "name": "si:dkey-12h9.9",
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                    "id": "0110273",
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                }
            ]
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            "uniprot_canonical_ac": "Q64691-1",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Calpain-3",
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                    "name": "CANP 3",
                    "type": "synonym"
                },
                {
                    "name": "Calcium-activated neutral proteinase 3",
                    "type": "synonym"
                },
                {
                    "name": "Calpain L3",
                    "type": "synonym"
                },
                {
                    "name": "Calpain p94",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific calcium-activated neutral protease 3",
                    "type": "synonym"
                },
                {
                    "name": "calcium-activated neutral proteinase 3",
                    "type": "synonym"
                },
                {
                    "name": "calpain L3",
                    "type": "synonym"
                },
                {
                    "name": "calpain-3 isoform c",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific calcium-activated neutral protease 3",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle specific calpain p94",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Capn3",
                    "type": "recommended"
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                {
                    "name": "Capa-3",
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                },
                {
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                {
                    "name": "Capn3",
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            ]
        },
        {
            "uniprot_canonical_ac": "O75190-1",
            "uniprot_ac": "O75190",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "DnaJ homolog subfamily B member 6",
                    "type": "recommended"
                },
                {
                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 6",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ-like 2 protein",
                    "type": "synonym"
                },
                {
                    "name": "HHDJ1",
                    "type": "synonym"
                },
                {
                    "name": "HSJ-2",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein J2",
                    "type": "synonym"
                },
                {
                    "name": "MRJ",
                    "type": "synonym"
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                {
                    "name": "MSJ-1",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 6 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ homolog subfamily B member 6",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein J2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAJB6",
                    "type": "recommended"
                },
                {
                    "name": "DJ4",
                    "type": "synonym"
                },
                {
                    "name": "DNAJB6",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ",
                    "type": "synonym"
                },
                {
                    "name": "HHDJ1",
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                {
                    "name": "HSJ-2",
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                },
                {
                    "name": "HSJ2",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1D",
                    "type": "synonym"
                },
                {
                    "name": "LGMD1E",
                    "type": "synonym"
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                {
                    "name": "LGMDD1",
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                {
                    "name": "MRJ",
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                    "name": "MSJ-1",
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                    "name": "MSJ1",
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                    "id": "603511",
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                }
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        {
            "uniprot_canonical_ac": "P16259-1",
            "uniprot_ac": "P16259",
            "uniprot_id": "CAN3_RAT",
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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": "Calpain-3",
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                    "name": "3.4.22.54",
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                {
                    "name": "CANP 3",
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                {
                    "name": "Calcium-activated neutral proteinase 3",
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                {
                    "name": "Calpain L3",
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                {
                    "name": "Muscle-specific calcium-activated neutral protease 3",
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                {
                    "name": "calcium-activated neutral proteinase 3",
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                    "name": "Capn3",
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                    "id": "0110273",
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            "uniprot_ac": "Q11002",
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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": "Calpain-A",
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                    "name": "CG7563-PC",
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                    "name": "Calcium-activated neutral proteinase A",
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                {
                    "name": "calpain lacking calmodulin-like domain",
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                    "name": "calpainA",
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                    "name": "calpain",
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                    "name": "CalpA",
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                    "name": "CG7563",
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                    "name": "Dmel_CG7563",
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                    "name": "EST C",
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                    "id": "0110273",
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                    "name": "Drosophila melanogaster",
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Calpain-B",
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                    "name": "3.4.22.-",
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                },
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                    "name": "CANP B",
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                },
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                    "name": "CG8107-PB",
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                    "name": "Calcium-activated neutral proteinase B",
                    "type": "synonym"
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                {
                    "name": "CalpB-PB",
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                {
                    "name": "Calpain-B, isoform B",
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                },
                {
                    "name": "calpain B",
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                {
                    "name": "calpainB",
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                    "name": "CalpB",
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                    "name": "CALPB",
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                    "name": "Calp B",
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                    "name": "CalpB",
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                    "name": "Dmel_CG8107",
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                    "name": "calpB",
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                    "id": "0110273",
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                    "name": "Homo sapiens",
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                }
            ],
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                {
                    "name": "Cytochrome c oxidase subunit 5B, mitochondrial",
                    "type": "recommended"
                },
                {
                    "name": "Cytochrome c oxidase polypeptide Vb",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase polypeptide VB, mitochondrial",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome c oxidase subunit 5B, mitochondrial precursor",
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                },
                {
                    "name": "cytochrome c oxidase subunit 5B, mitochondrial",
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                {
                    "name": "cytochrome c oxidase subunit Vb",
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                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
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                    "name": "COX5B",
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                {
                    "name": "COX5B",
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                },
                {
                    "name": "COXVB",
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                    "id": "0110273",
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            "uniprot_canonical_ac": "P20807-1",
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                    "name": "Homo sapiens",
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                }
            ],
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                    "name": "Calpain-3",
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                    "name": "CANP 3",
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                {
                    "name": "Calcium-activated neutral proteinase 3",
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                },
                {
                    "name": "Calpain L3",
                    "type": "synonym"
                },
                {
                    "name": "Calpain p94",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific calcium-activated neutral protease 3",
                    "type": "synonym"
                },
                {
                    "name": "New calpain 1",
                    "type": "synonym"
                },
                {
                    "name": "calpain p94, large [catalytic] subunit",
                    "type": "synonym"
                },
                {
                    "name": "calpain, large polypeptide L3",
                    "type": "synonym"
                },
                {
                    "name": "calpain-3 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "muscle-specific calcium-activated neutral protease 3 large subunit",
                    "type": "synonym"
                },
                {
                    "name": "nCL-1",
                    "type": "synonym"
                },
                {
                    "name": "new calpain 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAPN3",
                    "type": "recommended"
                },
                {
                    "name": "CANP3",
                    "type": "synonym"
                },
                {
                    "name": "CANPL3",
                    "type": "synonym"
                },
                {
                    "name": "CAPN3",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2A",
                    "type": "synonym"
                },
                {
                    "name": "LGMD2",
                    "type": "synonym"
                },
                {
                    "name": "LGMDD4",
                    "type": "synonym"
                },
                {
                    "name": "LGMDR1",
                    "type": "synonym"
                },
                {
                    "name": "NCL1",
                    "type": "synonym"
                },
                {
                    "name": "nCL-1",
                    "type": "synonym"
                },
                {
                    "name": "p94",
                    "type": "synonym"
                }
            ],
            "record_id": "P20807-1",
            "evidence": [
                {
                    "id": "0110273",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110273"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110273"
}