{
    "disease_id": "DOID:0111599",
    "recommended_name": {
        "id": "DOID:0111599",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111599",
        "name": "distal arthrogryposis type 2B",
        "description": "A distal arthrogryposis characterized by contractures of the distal joints of the limbs, triangular face, downslanting palpebral fissures, small mouth, and high arched palate."
    },
    "synonyms": [
        {
            "id": "DOID:0111599",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111599",
            "name": "DA2B",
            "description": ""
        },
        {
            "id": "DOID:0111599",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111599",
            "name": "Freeman-Sheldon syndrome variant",
            "description": ""
        },
        {
            "id": "DOID:0111599",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111599",
            "name": "Sheldon-Hall syndrome",
            "description": ""
        }
    ],
    "children": [
        {
            "id": "DOID:0111600",
            "label": "distal arthrogryposis type 2B1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111601",
            "label": "distal arthrogryposis type 2B2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111602",
            "label": "distal arthrogryposis type 2B3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111600",
        "DOID:0111601",
        "DOID:0111599",
        "DOID:0111602"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111599",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111599",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9QEC8-1",
            "uniprot_ac": "A0A8M9QEC8",
            "uniprot_id": "A0A8M9QEC8_DANRE",
            "refseq_ac": "XP_005171981",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Myosin, heavy polypeptide 1.2, skeletal muscle isoform X1",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "myhz1.2",
                    "type": "recommended"
                },
                {
                    "name": "fmyhc1.2",
                    "type": "synonym"
                },
                {
                    "name": "myhc3",
                    "type": "synonym"
                },
                {
                    "name": "myhz1.2",
                    "type": "synonym"
                },
                {
                    "name": "ns:zf-e523",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-158m24.8",
                    "type": "synonym"
                }
            ],
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                    "id": "0111599",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111599"
                }
            ]
        },
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                    "name": "Danio rerio",
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                }
            ],
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                {
                    "name": "Troponin T type 3b (Skeletal, fast) isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 3b (skeletal, fast) isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tnnt3b",
                    "type": "recommended"
                },
                {
                    "name": "b44",
                    "type": "synonym"
                },
                {
                    "name": "cb44",
                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "tnnt3b",
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                    "id": "0111599",
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                }
            ]
        },
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Myosin-3",
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                },
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                    "type": "synonym"
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                    "name": "myosin-3",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Myh3",
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                {
                    "name": "MyHC-emb",
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                },
                {
                    "name": "Myh3",
                    "type": "synonym"
                },
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                    "name": "Myhs-e",
                    "type": "synonym"
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                {
                    "name": "Myhse",
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                    "id": "0111599",
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            ]
        },
        {
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
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                    "glygen_name": "Mouse",
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                }
            ],
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                },
                {
                    "name": "Fast skeletal muscle troponin T",
                    "type": "synonym"
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                {
                    "name": "TnTf",
                    "type": "synonym"
                },
                {
                    "name": "fTnT",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal muscle troponin T3",
                    "type": "synonym"
                },
                {
                    "name": "skeletal muscle fast-twitch TnT",
                    "type": "synonym"
                },
                {
                    "name": "tnTf",
                    "type": "synonym"
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                {
                    "name": "troponin T, fast skeletal muscle isoform 2",
                    "type": "synonym"
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                    "name": "troponin T, fast skeletal muscle",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Tnnt3",
                    "type": "recommended"
                },
                {
                    "name": "Tnnt3",
                    "type": "synonym"
                },
                {
                    "name": "fTnT",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08964-1",
            "uniprot_ac": "P08964",
            "uniprot_id": "MYO1_YEAST",
            "refseq_ac": "NP_011888",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Myosin-1",
                    "type": "recommended"
                },
                {
                    "name": "Type II myosin",
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                {
                    "name": "myosin 1",
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                    "name": "MYO1",
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                {
                    "name": "MYO1",
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                    "id": "0111599",
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                }
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        },
        {
            "uniprot_canonical_ac": "P12847-1",
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                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Myosin-3",
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                    "name": "Myosin heavy chain 3",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, fast skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, fast skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy polypeptide 3",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 3, skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 3, skeletal muscle, embryonic",
                    "type": "synonym"
                },
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                    "name": "myosin-3",
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                }
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                {
                    "name": "Myh3",
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                },
                {
                    "name": "Myh3",
                    "type": "synonym"
                },
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                    "name": "Myhse",
                    "type": "synonym"
                },
                {
                    "name": "RNMHCG",
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                    "id": "0111599",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
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            ],
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                    "name": "Troponin T, fast skeletal muscle",
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                    "name": "fast skeletal muscle troponin T",
                    "type": "synonym"
                },
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                    "name": "tnTf",
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                    "name": "troponin T type 3 (skeletal, fast)",
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                },
                {
                    "name": "troponin T, fast skeletal muscle isoform 11",
                    "type": "synonym"
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                {
                    "name": "troponin T, fast skeletal muscle",
                    "type": "synonym"
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                {
                    "name": "troponin T3, skeletal, fast",
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                    "name": "Tnnt3",
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                {
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                    "id": "0111599",
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                    "name": "Not-upheld",
                    "type": "synonym"
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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",
                    "type": "synonym"
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                    "name": "muscle myosin II heavy chain",
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                    "name": "muscle myosin heavy chain",
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                    "name": "muscle myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "muscle specific myosin II",
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                    "name": "myosin HC",
                    "type": "synonym"
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                {
                    "name": "myosin heavy Chain-PF",
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                {
                    "name": "myosin heavy chain",
                    "type": "synonym"
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                {
                    "name": "myosin heavy-chain protein",
                    "type": "synonym"
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                {
                    "name": "myosin rod protein",
                    "type": "synonym"
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                {
                    "name": "myosin-heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "samba",
                    "type": "synonym"
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                {
                    "name": "sarcomeric myosin heavy-chain",
                    "type": "synonym"
                },
                {
                    "name": "shrunken thorax",
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                {
                    "name": "stuckup",
                    "type": "synonym"
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                    "name": "Mhc",
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                    "name": "Bsh",
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                    "name": "CG17927",
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                    "name": "DROMHC",
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                {
                    "name": "Dm II",
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                    "name": "DmMHC",
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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",
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                    "name": "Myo6",
                    "type": "synonym"
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                {
                    "name": "Myosin",
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                },
                {
                    "name": "Myo",
                    "type": "synonym"
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                {
                    "name": "Nup",
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                },
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                    "name": "Sht",
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                {
                    "name": "Stp",
                    "type": "synonym"
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                {
                    "name": "chr2L:16765388..16765564",
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                {
                    "name": "chr2L:16781880..16782040",
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                {
                    "name": "ifm(2)2",
                    "type": "synonym"
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                {
                    "name": "ifm(2)RU1",
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                    "name": "ifm(2)RU2",
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                {
                    "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",
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                    "name": "sMHC",
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                    "id": "0111599",
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                }
            ]
        },
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                }
            ],
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                    "name": "Troponin T, skeletal muscle",
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                    "name": "CG7107-PG",
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                },
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                    "name": "Protein intended thorax",
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                },
                {
                    "name": "Protein upheld",
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                    "name": "indented thorax",
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                {
                    "name": "Dmel_CG7107",
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                    "name": "TNT",
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                    "name": "Tn-T",
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                    "name": "TnT",
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                    "name": "TpnT",
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                    "name": "Up",
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                    "name": "dro TnT",
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                {
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                    "name": "tnT",
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                    "name": "upheld2",
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                {
                    "name": "up",
                    "type": "synonym"
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                {
                    "name": "wupB",
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                }
            ],
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                {
                    "id": "0111599",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P45378-1",
            "uniprot_ac": "P45378",
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            "species": [
                {
                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin T, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Beta-TnTF",
                    "type": "synonym"
                },
                {
                    "name": "Fast skeletal muscle troponin T",
                    "type": "synonym"
                },
                {
                    "name": "TnTf",
                    "type": "synonym"
                },
                {
                    "name": "fTnT",
                    "type": "synonym"
                },
                {
                    "name": "troponin T type 3 (skeletal, fast)",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, fast skeletal muscle isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "troponin T, fast skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TNNT3",
                    "type": "recommended"
                },
                {
                    "name": "DA2B2",
                    "type": "synonym"
                },
                {
                    "name": "TNNT3",
                    "type": "synonym"
                },
                {
                    "name": "TNTF",
                    "type": "synonym"
                },
                {
                    "name": "beta-TnTF",
                    "type": "synonym"
                }
            ],
            "record_id": "P45378-1",
            "evidence": [
                {
                    "id": "0111599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111599"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11055-1",
            "uniprot_ac": "P11055",
            "uniprot_id": "MYH3_HUMAN",
            "refseq_ac": "NP_002461",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-3",
                    "type": "recommended"
                },
                {
                    "name": "Muscle embryonic myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 3",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, fast skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "SMHCE",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, fast skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 3, skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 3, skeletal muscle, embryonic",
                    "type": "synonym"
                },
                {
                    "name": "myosin, skeletal, heavy chain, embryonic 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYH3",
                    "type": "recommended"
                },
                {
                    "name": "CPSFS1A",
                    "type": "synonym"
                },
                {
                    "name": "CPSFS1B",
                    "type": "synonym"
                },
                {
                    "name": "CPSKF1A",
                    "type": "synonym"
                },
                {
                    "name": "CPSKF1B",
                    "type": "synonym"
                },
                {
                    "name": "DA2A",
                    "type": "synonym"
                },
                {
                    "name": "DA2B3",
                    "type": "synonym"
                },
                {
                    "name": "DA2B",
                    "type": "synonym"
                },
                {
                    "name": "DA8",
                    "type": "synonym"
                },
                {
                    "name": "HEMHC",
                    "type": "synonym"
                },
                {
                    "name": "MYH3",
                    "type": "synonym"
                },
                {
                    "name": "MYHC-EMB",
                    "type": "synonym"
                },
                {
                    "name": "MYHSE1",
                    "type": "synonym"
                },
                {
                    "name": "SMHCE",
                    "type": "synonym"
                }
            ],
            "record_id": "P11055-1",
            "evidence": [
                {
                    "id": "0111599",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111599"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111599"
}