{
    "disease_id": "DOID:0111603",
    "recommended_name": {
        "id": "DOID:0111603",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111603",
        "name": "distal arthrogryposis type 7",
        "description": "A distal arthrogryposis characterized by inability to open the mouth fully and pseudocamptodactyly that has_material_basis_in heterozygous mutation in the MYH8 gene on chromosome 17p13.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111603",
            "name": "mouth, inability to completely open, and short finger-flexor tendons",
            "description": ""
        },
        {
            "id": "DOID:0111603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111603",
            "name": "DA7",
            "description": ""
        },
        {
            "id": "DOID:0111603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111603",
            "name": "Dutch-Kentucky syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111603",
            "name": "Hecht syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111603",
            "name": "Hecht-Beals syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111603",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111603",
            "name": "trismus-pseudocamptodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007364",
            "name": "arthrogryposis, distal, type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0007364",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007364",
            "name": "arthrogryposis, distal, type 2E",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "trismus-pseudocamptodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "Dutch-Kentucky syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "Hecht syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "Hecht-Beals syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "distal arthrogryposis type 7",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "trismus-pseudocamptodactyly syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "DA7",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "arthrogryposis distal type 7",
            "description": ""
        },
        {
            "id": "MONDO:0008016",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "name": "arthrogryposis, distal, type 7",
            "description": ""
        },
        {
            "id": "MIM:158300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/158300",
            "name": "Arthrogryposis, distal, 7",
            "description": "Arthrogryposis, distal, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111603"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111603",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111603",
            "categories": []
        },
        {
            "id": "MONDO:0007364",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007364",
            "categories": []
        },
        {
            "id": "MONDO:0008016",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008016",
            "categories": []
        },
        {
            "id": "MIM:158300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/158300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A2BGX6-1",
            "uniprot_ac": "A2BGX6",
            "uniprot_id": "A2BGX6_DANRE",
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                {
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                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Myosin heavy chain 4 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain 4 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "myhc4",
                    "type": "recommended"
                },
                {
                    "name": "fi38g05",
                    "type": "synonym"
                },
                {
                    "name": "myhc4",
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                },
                {
                    "name": "wu:fi17f08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fi38g05",
                    "type": "synonym"
                }
            ],
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                    "id": "0111603",
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                }
            ]
        },
        {
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            "uniprot_ac": "A0A8M9QEC8",
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                {
                    "name": "Danio rerio",
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                    "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"
                },
                {
                    "name": "myosin, heavy polypeptide 1.2, skeletal muscle isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myhz1.2",
                    "type": "recommended"
                },
                {
                    "name": "fmyhc1.2",
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                {
                    "name": "myhc3",
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                {
                    "name": "myhz1.2",
                    "type": "synonym"
                },
                {
                    "name": "ns:zf-e523",
                    "type": "synonym"
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                {
                    "name": "si:ch211-158m24.8",
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                }
            ],
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                {
                    "id": "0111603",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "B8A569-1",
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            "refseq_ac": "XP_001924014",
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                {
                    "name": "Danio rerio",
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                    "common_name": "Zebrafish",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Myosin heavy chain, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, fast skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myhz1.3",
                    "type": "recommended"
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                {
                    "name": "myhz1.3",
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                }
            ],
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                    "id": "0111603",
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            ]
        },
        {
            "uniprot_canonical_ac": "B8A568-1",
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                    "name": "Danio rerio",
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                }
            ],
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                {
                    "name": "Myosin, heavy polypeptide 1.1, skeletal muscle",
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                {
                    "name": "fast MyHC",
                    "type": "synonym"
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                {
                    "name": "myosin, heavy polypeptide 1, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 1.1, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myhz1.1",
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                },
                {
                    "name": "cb20",
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                },
                {
                    "name": "etID37302.5",
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                },
                {
                    "name": "fb37e12",
                    "type": "synonym"
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                {
                    "name": "fmyhc1.1",
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                },
                {
                    "name": "myhc3",
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                },
                {
                    "name": "myhc4",
                    "type": "synonym"
                },
                {
                    "name": "myhz1.1",
                    "type": "synonym"
                },
                {
                    "name": "myhz1",
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                },
                {
                    "name": "myo2hc1",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb20",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-158m24.7",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb26a08",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb26f12",
                    "type": "synonym"
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                {
                    "name": "wu:fb37e12",
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            ],
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                {
                    "id": "0111603",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QVX3-1",
            "uniprot_ac": "F1QVX3",
            "uniprot_id": "F1QVX3_DANRE",
            "refseq_ac": "XP_001339206",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Myosin heavy chain, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, fast skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myhb",
                    "type": "recommended"
                },
                {
                    "name": "myhb",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QVX3-1",
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                {
                    "id": "0111603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111603"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13542-1",
            "uniprot_ac": "P13542",
            "uniprot_id": "MYH8_MOUSE",
            "refseq_ac": "NP_796343",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-8",
                    "type": "recommended"
                },
                {
                    "name": "Beta-MHC antisense",
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                },
                {
                    "name": "MyHC-perinatal",
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                },
                {
                    "name": "Myosin heavy chain 8",
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                },
                {
                    "name": "Myosin heavy chain, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myHC-perinatal",
                    "type": "synonym"
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                {
                    "name": "myosin heavy chain 8",
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                },
                {
                    "name": "myosin heavy chain, skeletal muscle, perinatal",
                    "type": "synonym"
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                {
                    "name": "myosin-8",
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                }
            ],
            "gene_names": [
                {
                    "name": "Myh8",
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                },
                {
                    "name": "4832426G23Rik",
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                },
                {
                    "name": "MHCp",
                    "type": "synonym"
                },
                {
                    "name": "MyHC-pn",
                    "type": "synonym"
                },
                {
                    "name": "Myh8",
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                },
                {
                    "name": "Myhs-p",
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                {
                    "name": "Myhsp",
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            ],
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                {
                    "id": "0111603",
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            ]
        },
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            "uniprot_canonical_ac": "P13535-1",
            "uniprot_ac": "P13535",
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            "refseq_ac": "NP_002463",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Myosin-8",
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                    "name": "MyHC-perinatal",
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                    "name": "Myosin heavy chain 8",
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                {
                    "name": "Myosin heavy chain, skeletal muscle, perinatal",
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                },
                {
                    "name": "fetal-myosin heavy chain",
                    "type": "synonym"
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                {
                    "name": "myHC-perinatal",
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                {
                    "name": "myosin heavy chain, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy chain 8, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 8, skeletal muscle, perinatal",
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                    "name": "myosin-8",
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                    "name": "MYH8",
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                    "name": "DA7",
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                },
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                    "name": "MYH8",
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                    "name": "MyHC-peri",
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                    "name": "MyHC-pn",
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                {
                    "name": "gtMHC-F",
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            ],
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                {
                    "id": "158300",
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                {
                    "id": "0111603",
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                }
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        },
        {
            "uniprot_canonical_ac": "P08964-1",
            "uniprot_ac": "P08964",
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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",
                    "type": "recommended"
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                {
                    "name": "Type II myosin",
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                },
                {
                    "name": "myosin 1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "MYO1",
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                },
                {
                    "name": "MYO1",
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                    "id": "0111603",
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            ]
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        {
            "uniprot_canonical_ac": "P04462-1",
            "uniprot_ac": "P04462",
            "uniprot_id": "MYH8_RAT",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Myosin-8",
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                {
                    "name": "MyHC-perinatal",
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                {
                    "name": "Myosin heavy chain 8",
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                {
                    "name": "Myosin heavy chain, skeletal muscle, perinatal",
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            ],
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                {
                    "name": "Myh8",
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                    "id": "0111603",
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        {
            "uniprot_canonical_ac": "P05661-3",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Myosin heavy chain, muscle",
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                    "name": "CG17927-PO",
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                {
                    "name": "Mhc-PO",
                    "type": "synonym"
                },
                {
                    "name": "Not-upheld",
                    "type": "synonym"
                },
                {
                    "name": "Shrunken-thorax",
                    "type": "synonym"
                },
                {
                    "name": "beta-myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "indirect flight muscle (2) RU1",
                    "type": "synonym"
                },
                {
                    "name": "indirect flight muscle (2) RU2",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin II heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "muscle specific myosin II",
                    "type": "synonym"
                },
                {
                    "name": "myosin HC",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy Chain-PF",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy-chain protein",
                    "type": "synonym"
                },
                {
                    "name": "myosin rod protein",
                    "type": "synonym"
                },
                {
                    "name": "myosin-heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "samba",
                    "type": "synonym"
                },
                {
                    "name": "sarcomeric myosin heavy-chain",
                    "type": "synonym"
                },
                {
                    "name": "shrunken thorax",
                    "type": "synonym"
                },
                {
                    "name": "stuckup",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mhc",
                    "type": "recommended"
                },
                {
                    "name": "Bsh",
                    "type": "synonym"
                },
                {
                    "name": "CG17927",
                    "type": "synonym"
                },
                {
                    "name": "DROMHC",
                    "type": "synonym"
                },
                {
                    "name": "Dm II",
                    "type": "synonym"
                },
                {
                    "name": "DmMHC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17927",
                    "type": "synonym"
                },
                {
                    "name": "DroMII",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(2)2",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(2)RU1",
                    "type": "synonym"
                },
                {
                    "name": "MHC",
                    "type": "synonym"
                },
                {
                    "name": "MRP",
                    "type": "synonym"
                },
                {
                    "name": "Mhc36B",
                    "type": "synonym"
                },
                {
                    "name": "Mhc",
                    "type": "synonym"
                },
                {
                    "name": "Mrp",
                    "type": "synonym"
                },
                {
                    "name": "MyHC",
                    "type": "synonym"
                },
                {
                    "name": "Myo6",
                    "type": "synonym"
                },
                {
                    "name": "Myosin",
                    "type": "synonym"
                },
                {
                    "name": "Myo",
                    "type": "synonym"
                },
                {
                    "name": "Nup",
                    "type": "synonym"
                },
                {
                    "name": "Sht",
                    "type": "synonym"
                },
                {
                    "name": "Stp",
                    "type": "synonym"
                },
                {
                    "name": "chr2L:16765388..16765564",
                    "type": "synonym"
                },
                {
                    "name": "chr2L:16781880..16782040",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)2",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)RU1",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)RU2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)36Ae",
                    "type": "synonym"
                },
                {
                    "name": "l(2)M66",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10423",
                    "type": "synonym"
                },
                {
                    "name": "mMHC",
                    "type": "synonym"
                },
                {
                    "name": "mhc",
                    "type": "synonym"
                },
                {
                    "name": "sMHC",
                    "type": "synonym"
                }
            ],
            "record_id": "P05661-3",
            "evidence": [
                {
                    "id": "0111603",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111603"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111603"
}