{
    "disease_id": "DOID:0081353",
    "recommended_name": {
        "id": "DOID:0081353",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081353",
        "name": "congenital myopathy 21",
        "description": "A congenital myopathy that is characterized by diaphragmatic weakness and spinal rigidity and that has_material_basis_in homozygous mutation in the DNAJB4 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0081353",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081353",
            "name": "congenital myopathy 21 with early respiratory failure",
            "description": ""
        },
        {
            "id": "MONDO:0957224",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957224",
            "name": "congenital myopathy 21 with early respiratory failure",
            "description": ""
        },
        {
            "id": "MIM:620326",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620326",
            "name": "Congenital myopathy 21 with early respiratory failure",
            "description": "Congenital myopathy 21 with early respiratory failure"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081353"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081353",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081353",
            "categories": []
        },
        {
            "id": "MONDO:0957224",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957224",
            "categories": []
        },
        {
            "id": "MIM:620326",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620326",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M1PA47",
            "uniprot_id": "A0A8M1PA47_DANRE",
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            "glycoprotein": "no",
            "species": [
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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            ],
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                    "name": "dnajb1b",
                    "type": "recommended"
                },
                {
                    "name": "CH73-341P18.4",
                    "type": "synonym"
                },
                {
                    "name": "dnajb1b",
                    "type": "synonym"
                },
                {
                    "name": "dnj-13C",
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                    "name": "fd19c10",
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                    "name": "wu:fd19c10",
                    "type": "synonym"
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                    "name": "zgc:55492",
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                }
            ],
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                {
                    "name": "DnaJ homolog subfamily B member 5",
                    "type": "synonym"
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                }
            ],
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                }
            ],
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                {
                    "name": "DnaJ homolog subfamily B member 5",
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                    "name": "DnaJ (Hsp40) homolog, subfamily B, member 5",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein Hsp40-3",
                    "type": "synonym"
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                {
                    "name": "Heat shock protein cognate 40",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
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                {
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                    "type": "synonym"
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            ],
            "gene_names": [
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                    "name": "Dnajb5",
                    "type": "recommended"
                },
                {
                    "name": "1110058L06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Dnajb5",
                    "type": "synonym"
                },
                {
                    "name": "Hsc40",
                    "type": "synonym"
                },
                {
                    "name": "Hsp40-3",
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                {
                    "id": "0081353",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0081353"
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            ]
        },
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                    "name": "Heat shock 40 kDa protein 1",
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                {
                    "name": "Heat shock protein 40",
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                    "name": "Dnajb1",
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                },
                {
                    "name": "Testis spermatocyte apoptosis-related gene 6 protein",
                    "type": "synonym"
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                {
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                {
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                {
                    "name": "DROJ1",
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                },
                {
                    "name": "DmHsp40",
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                },
                {
                    "name": "Dmel\\CG10578",
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                },
                {
                    "name": "Dmel_CG10578",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ-1",
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                },
                {
                    "name": "DnaJ1 64EF",
                    "type": "synonym"
                },
                {
                    "name": "DnaJ1",
                    "type": "synonym"
                },
                {
                    "name": "Dnaj-1",
                    "type": "synonym"
                },
                {
                    "name": "DroJ1",
                    "type": "synonym"
                },
                {
                    "name": "EU3500",
                    "type": "synonym"
                },
                {
                    "name": "HDJ1",
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                },
                {
                    "name": "HSP40/HDJ1",
                    "type": "synonym"
                },
                {
                    "name": "HSP40",
                    "type": "synonym"
                },
                {
                    "name": "Hdj1",
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                },
                {
                    "name": "Hsp-40",
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                },
                {
                    "name": "Hsp40",
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                },
                {
                    "name": "anon-WO0140519.166",
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                },
                {
                    "name": "anon-WO0172774.135",
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                },
                {
                    "name": "dHDJ1/HSP40",
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                },
                {
                    "name": "dHDJ1",
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                {
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                    "name": "dHdj1",
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                {
                    "name": "dhdJ1",
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                },
                {
                    "name": "dhdj-1",
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                },
                {
                    "name": "dhdj1",
                    "type": "synonym"
                },
                {
                    "name": "dnaJ-1",
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                {
                    "name": "dnaj-1",
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                {
                    "name": "droj1",
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                },
                {
                    "name": "hsp40",
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                }
            ],
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                    "id": "0081353",
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                    "name": "Drosophila melanogaster",
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                {
                    "name": "uncharacterized protein, isoform B",
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                    "name": "Dmel\\CG5001",
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                    "name": "Dmel\\CG5001",
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                {
                    "name": "Dmel_CG2887",
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            ],
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                    "name": "DnaJ homolog subfamily B member 13",
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                {
                    "name": "Testis and spermatogenesis cell-related protein 6",
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                {
                    "name": "Testis spermatocyte apoptosis-related gene 6 protein",
                    "type": "synonym"
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                {
                    "name": "Testis spermatogenesis apoptosis-related gene 3 protein",
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                {
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                    "name": "radial spoke 16 homolog A",
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                {
                    "name": "testis and spermatogenesis cell-related protein 6",
                    "type": "synonym"
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                {
                    "name": "testis spermatocyte apoptosis-related gene 6 protein",
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                {
                    "name": "testis spermatogenesis apoptosis-related gene 3 protein",
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                    "name": "testis spermatogenesis apoptosis-related gene 6 protein",
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                    "name": "DNAJB13",
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                    "name": "CILD34",
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                    "name": "DNAJB13",
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                    "name": "RSPH16A",
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                {
                    "name": "TSARG5",
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                    "name": "TSARG6",
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                    "name": "DNAJB5",
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                {
                    "name": "Heat shock 40 kDa protein 1",
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                    "name": "Heat shock protein 40",
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                    "name": "Human DnaJ protein 1",
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                    "name": "heat shock 40 kDa protein 1",
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                    "name": "human DnaJ protein 1",
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                    "name": "radial spoke 16 homolog B",
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                    "name": "DNAJB1",
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                    "name": "HDJ1",
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                    "name": "Hdj1",
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                    "name": "Hsp40",
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                    "name": "RSPH16B",
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                    "id": "0081353",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081353"
}