{
    "disease_id": "DOID:0111597",
    "recommended_name": {
        "id": "DOID:0111597",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111597",
        "name": "distal arthrogryposis type 1A",
        "description": "A distal arthrogryposis type 1 that has_material_basis_in heterozygous mutation in the TPM2 gene on chromosome 9p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111597",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111597",
            "name": "DA1A",
            "description": ""
        },
        {
            "id": "MONDO:0007157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007157",
            "name": "arthrogryposis, distal, type 1A",
            "description": ""
        },
        {
            "id": "MONDO:0007157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007157",
            "name": "arthrogryposis multiplex congenita",
            "description": ""
        },
        {
            "id": "MONDO:0007157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007157",
            "name": "AMC",
            "description": ""
        },
        {
            "id": "MONDO:0007157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007157",
            "name": "DA1A",
            "description": ""
        },
        {
            "id": "MONDO:0007157",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007157",
            "name": "arthrogryposis, distal, type 1A",
            "description": ""
        },
        {
            "id": "MIM:108120",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/108120",
            "name": "Arthrogryposis, distal, 1A",
            "description": "Arthrogryposis, distal, 1A"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111597"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111597",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111597",
            "categories": []
        },
        {
            "id": "MONDO:0007157",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007157",
            "categories": []
        },
        {
            "id": "MIM:108120",
            "database": "MIM",
            "url": "https://www.omim.org/entry/108120",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O93409-1",
            "uniprot_ac": "O93409",
            "uniprot_id": "MLRSA_DANRE",
            "refseq_ac": "NP_571263",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin regulatory light chain 2, skeletal muscle isoform A",
                    "type": "recommended"
                },
                {
                    "name": "Fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 11",
                    "type": "synonym"
                },
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                    "name": "Myosin regulatory light chain 11",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 11",
                    "type": "synonym"
                },
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                    "name": "myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, skeletal muscle isoform A",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 2, skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin, light polypeptide 2, skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mylpfa",
                    "type": "recommended"
                },
                {
                    "name": "cb46",
                    "type": "synonym"
                },
                {
                    "name": "mlc2f",
                    "type": "synonym"
                },
                {
                    "name": "myl11a",
                    "type": "synonym"
                },
                {
                    "name": "mylpfa",
                    "type": "synonym"
                },
                {
                    "name": "mylz2",
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                },
                {
                    "name": "sb:cb46",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58774-1",
            "uniprot_ac": "P58774",
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            "refseq_ac": "NP_033442",
            "glycoprotein": "yes",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tropomyosin",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain isoform Tpm2.2st",
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                },
                {
                    "name": "tropomyosin beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tpm2",
                    "type": "recommended"
                },
                {
                    "name": "Tpm-2",
                    "type": "synonym"
                },
                {
                    "name": "Tpm2",
                    "type": "synonym"
                },
                {
                    "name": "Trop-2",
                    "type": "synonym"
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            ],
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                {
                    "id": "0111597",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97457-1",
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            "refseq_ac": "NP_058034",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Myosin regulatory light chain 11",
                    "type": "recommended"
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                {
                    "name": "Fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "MLC2F",
                    "type": "synonym"
                },
                {
                    "name": "Myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "Myosin regulatory light chain 2, skeletal muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Myl11",
                    "type": "recommended"
                },
                {
                    "name": "Mylpf",
                    "type": "recommended"
                },
                {
                    "name": "2410014J02Rik",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
                },
                {
                    "name": "Mlc2",
                    "type": "synonym"
                },
                {
                    "name": "Myl11",
                    "type": "synonym"
                },
                {
                    "name": "Mylpf",
                    "type": "synonym"
                }
            ],
            "record_id": "P97457-1",
            "evidence": [
                {
                    "id": "0111597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07951-1",
            "uniprot_ac": "P07951",
            "uniprot_id": "TPM2_HUMAN",
            "refseq_ac": "NP_003280",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-2",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 273",
                    "type": "synonym"
                },
                {
                    "name": "nemaline myopathy type 4",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 2 (beta)",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain isoform Tpm2.2st",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPM2",
                    "type": "recommended"
                },
                {
                    "name": "AMCD1",
                    "type": "synonym"
                },
                {
                    "name": "CMYO23",
                    "type": "synonym"
                },
                {
                    "name": "CMYP23",
                    "type": "synonym"
                },
                {
                    "name": "DA1",
                    "type": "synonym"
                },
                {
                    "name": "DA2B4",
                    "type": "synonym"
                },
                {
                    "name": "DA2B",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-273",
                    "type": "synonym"
                },
                {
                    "name": "NEM4",
                    "type": "synonym"
                },
                {
                    "name": "TMSB",
                    "type": "synonym"
                },
                {
                    "name": "TPM2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07951-1",
            "evidence": [
                {
                    "id": "108120",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/108120"
                },
                {
                    "id": "0111597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P17536-1",
            "uniprot_ac": "P17536",
            "uniprot_id": "TPM1_YEAST",
            "refseq_ac": "NP_014320",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin-1",
                    "type": "recommended"
                },
                {
                    "name": "tropomyosin TPM1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TPM1",
                    "type": "recommended"
                },
                {
                    "name": "N2332",
                    "type": "synonym"
                },
                {
                    "name": "TPM1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58775-1",
            "uniprot_ac": "P58775",
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            "refseq_ac": "NP_001019516",
            "glycoprotein": "yes",
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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": "Tropomyosin beta chain",
                    "type": "recommended"
                },
                {
                    "name": "Beta-tropomyosin",
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                },
                {
                    "name": "Tropomyosin-2",
                    "type": "synonym"
                },
                {
                    "name": "beta-tropomyosin",
                    "type": "synonym"
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                {
                    "name": "tropomyosin 2, beta",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain isoform Tpm2.1sm/cy",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin beta chain",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Tpm2",
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                },
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                    "name": "Tpm2",
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                {
                    "id": "0111597",
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                }
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            "uniprot_canonical_ac": "P04466-1",
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                    "name": "Rattus norvegicus",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Myosin regulatory light chain 11",
                    "type": "recommended"
                },
                {
                    "name": "DTNB",
                    "type": "synonym"
                },
                {
                    "name": "Fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "G2",
                    "type": "synonym"
                },
                {
                    "name": "MLC-2",
                    "type": "synonym"
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                {
                    "name": "Myosin light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "Myosin regulatory light chain 2, skeletal muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "Myosin, light polypeptide 2, alkali",
                    "type": "synonym"
                },
                {
                    "name": "fast skeletal myosin light chain 2",
                    "type": "synonym"
                },
                {
                    "name": "myosin light chain, phosphorylatable, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "myosin regulatory light chain 11",
                    "type": "synonym"
                },
                {
                    "name": "ventricular, skeletal, slow",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Myl11",
                    "type": "recommended"
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                {
                    "name": "MLC2",
                    "type": "synonym"
                },
                {
                    "name": "Myl11",
                    "type": "synonym"
                },
                {
                    "name": "Myl2",
                    "type": "synonym"
                },
                {
                    "name": "Mylpf",
                    "type": "synonym"
                },
                {
                    "name": "Myolc1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111597",
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                }
            ]
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            "uniprot_canonical_ac": "P49455-1",
            "uniprot_ac": "P49455",
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            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tropomyosin-1, isoforms 33/34",
                    "type": "recommended"
                },
                {
                    "name": "CG4898-PF",
                    "type": "synonym"
                },
                {
                    "name": "Tm1-PF",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin II",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin-1",
                    "type": "synonym"
                },
                {
                    "name": "Tropomyosin1",
                    "type": "synonym"
                },
                {
                    "name": "cytoplasmic tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "cytoskeletal tropomyosin",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin 1, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin II",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin I",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosinII",
                    "type": "synonym"
                },
                {
                    "name": "tropomysin II",
                    "type": "synonym"
                },
                {
                    "name": "troponin H",
                    "type": "synonym"
                },
                {
                    "name": "troponin-H isoform 34",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Tm1",
                    "type": "recommended"
                },
                {
                    "name": "10",
                    "type": "synonym"
                },
                {
                    "name": "1305/10",
                    "type": "synonym"
                },
                {
                    "name": "2299",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH09289",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD37158",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:SD21996",
                    "type": "synonym"
                },
                {
                    "name": "CG4898",
                    "type": "synonym"
                },
                {
                    "name": "Dm Tm1",
                    "type": "synonym"
                },
                {
                    "name": "Dm TmH33",
                    "type": "synonym"
                },
                {
                    "name": "Dm TmH34",
                    "type": "synonym"
                },
                {
                    "name": "DmTm1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4898",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4898",
                    "type": "synonym"
                },
                {
                    "name": "PmI",
                    "type": "synonym"
                },
                {
                    "name": "TM1",
                    "type": "synonym"
                },
                {
                    "name": "TMII",
                    "type": "synonym"
                },
                {
                    "name": "TM",
                    "type": "synonym"
                },
                {
                    "name": "Tm1",
                    "type": "synonym"
                },
                {
                    "name": "TmH-33",
                    "type": "synonym"
                },
                {
                    "name": "TmH-34",
                    "type": "synonym"
                },
                {
                    "name": "TmH33",
                    "type": "synonym"
                },
                {
                    "name": "TmH34",
                    "type": "synonym"
                },
                {
                    "name": "TmH",
                    "type": "synonym"
                },
                {
                    "name": "TmII",
                    "type": "synonym"
                },
                {
                    "name": "Tmr33",
                    "type": "synonym"
                },
                {
                    "name": "Tmr34",
                    "type": "synonym"
                },
                {
                    "name": "Tm",
                    "type": "synonym"
                },
                {
                    "name": "TnH-33",
                    "type": "synonym"
                },
                {
                    "name": "TnH-34",
                    "type": "synonym"
                },
                {
                    "name": "TnH",
                    "type": "synonym"
                },
                {
                    "name": "cTM",
                    "type": "synonym"
                },
                {
                    "name": "cTmII",
                    "type": "synonym"
                },
                {
                    "name": "cTm",
                    "type": "synonym"
                },
                {
                    "name": "chr3R:11122272..11122408",
                    "type": "synonym"
                },
                {
                    "name": "l(3)02299",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S130510",
                    "type": "synonym"
                },
                {
                    "name": "l(3)s2958",
                    "type": "synonym"
                },
                {
                    "name": "mTmII",
                    "type": "synonym"
                },
                {
                    "name": "region 3",
                    "type": "synonym"
                },
                {
                    "name": "tm1",
                    "type": "synonym"
                },
                {
                    "name": "tmII",
                    "type": "synonym"
                },
                {
                    "name": "tropomyosin",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0111597",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111597"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09491-1",
            "uniprot_ac": "P09491",
            "uniprot_id": "TPM2_DROME",
            "refseq_ac": "NP_001262592",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Dmel\\CG4843",
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                    "name": "Dmel_CG4843",
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                    "name": "IP16005p",
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                    "name": "Ifm(3)3",
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                    "name": "Ifm(3)5",
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                    "name": "TM2",
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                    "name": "Tm127",
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                    "name": "Tm2",
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                    "name": "TmI",
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                {
                    "name": "Tm",
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                {
                    "name": "Tn-H",
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                },
                {
                    "name": "dro Tm",
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                {
                    "name": "l(3)nc99Eb",
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                    "name": "mTmI",
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            ],
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                    "name": "Drosophila melanogaster",
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                }
            ],
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                    "name": "myosin II",
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                {
                    "name": "myosin LC2",
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                {
                    "name": "myosin alkali light chain 2",
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                    "name": "myosin light Chain-2",
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                    "name": "myosin light chain 2",
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                    "name": "myosin light-chain 2",
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                    "name": "Dmel\\CG2184",
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                    "name": "MLC 2",
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                    "name": "MLC-2",
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                    "name": "MLC2",
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                    "name": "MLC",
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                    "name": "RLC2",
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                    "name": "RLC",
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                {
                    "name": "dro MLC-2",
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                    "name": "l(3)99Eb",
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                    "taxid": 9606,
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                }
            ],
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                    "name": "Myosin regulatory light chain 11",
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                    "name": "Myosin regulatory light chain 2, skeletal muscle isoform",
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                {
                    "name": "myosin light chain, phosphorylatable, fast skeletal muscle",
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                    "name": "myosin regulatory light chain 11",
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                {
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                    "name": "DA1C",
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                    "name": "HUMMLC2B",
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                    "name": "MLC2B",
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                    "name": "MRLC2",
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                    "name": "MYL11",
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                    "name": "MYLPF",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111597"
}