{
    "disease_id": "DOID:0080954",
    "recommended_name": {
        "id": "DOID:0080954",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080954",
        "name": "arthrogryposis multiplex congenita",
        "description": "A nervous system disease that is characterized by development of multiple joint contractures affecting two or more areas of the body prior to birth."
    },
    "synonyms": [
        {
            "id": "MONDO:0060486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060486",
            "name": "arthrogryposis multiplex congenita 1, neurogenic, with myelin defect",
            "description": ""
        },
        {
            "id": "MONDO:0060486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060486",
            "name": "arthrogryposis multiplex congenita, neurogenic, with myelin defect",
            "description": ""
        },
        {
            "id": "MONDO:0060486",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0060486",
            "name": "AMCNMY",
            "description": ""
        },
        {
            "id": "MIM:617468",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617468",
            "name": "Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect",
            "description": "Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect"
        }
    ],
    "children": [
        {
            "id": "DOID:0070336",
            "label": "arthrogryposis multiplex congenita-6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080978",
            "label": "arthrogryposis multiplex congenita-1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080979",
            "label": "arthrogryposis multiplex congenita-3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080980",
            "label": "arthrogryposis multiplex congenita-4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080981",
            "label": "arthrogryposis multiplex congenita-5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090124",
            "label": "neurogenic-type arthrogryposis multiplex congenita-2",
            "link_status": true,
            "children": []
        }
    ],
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        "DOID:0070336",
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    ],
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            "categories": []
        },
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            "categories": []
        },
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            "url": "https://www.omim.org/entry/617468",
            "categories": []
        }
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                {
                    "name": "Myne1",
                    "type": "synonym"
                },
                {
                    "name": "Syne1",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1756",
                    "type": "synonym"
                },
                {
                    "name": "myne-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZWR6-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "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",
                    "type": "synonym"
                },
                {
                    "name": "MyHC-perinatal",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myHC-perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, skeletal muscle, perinatal",
                    "type": "synonym"
                },
                {
                    "name": "myosin-8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh8",
                    "type": "recommended"
                },
                {
                    "name": "4832426G23Rik",
                    "type": "synonym"
                },
                {
                    "name": "MHCp",
                    "type": "synonym"
                },
                {
                    "name": "MyHC-pn",
                    "type": "synonym"
                },
                {
                    "name": "Myh8",
                    "type": "synonym"
                },
                {
                    "name": "Myhs-p",
                    "type": "synonym"
                },
                {
                    "name": "Myhsp",
                    "type": "synonym"
                }
            ],
            "record_id": "P13542-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59016-1",
            "uniprot_ac": "P59016",
            "uniprot_id": "VP33B_MOUSE",
            "refseq_ac": "NP_835171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 33B",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps33b",
                    "type": "recommended"
                },
                {
                    "name": "Vps33b",
                    "type": "synonym"
                }
            ],
            "record_id": "P59016-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13412-1",
            "uniprot_ac": "P13412",
            "uniprot_id": "TNNI2_MOUSE",
            "refseq_ac": "NP_033431",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Troponin I, fast-twitch isoform",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, fast skeletal muscle",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnni2",
                    "type": "recommended"
                },
                {
                    "name": "Tnni2",
                    "type": "synonym"
                }
            ],
            "record_id": "P13412-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N135-1",
            "uniprot_ac": "Q8N135",
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            "refseq_ac": "NP_644813",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Leucine-rich repeat LGI family member 4",
                    "type": "recommended"
                },
                {
                    "name": "LGI1-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Leucine-rich glioma-inactivated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated gene 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich glioma-inactivated protein 4",
                    "type": "synonym"
                },
                {
                    "name": "leucine-rich repeat LGI family member 4 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LGI4",
                    "type": "recommended"
                },
                {
                    "name": "AMC1",
                    "type": "synonym"
                },
                {
                    "name": "AMCNMY",
                    "type": "synonym"
                },
                {
                    "name": "LGI4",
                    "type": "synonym"
                },
                {
                    "name": "LGIL3",
                    "type": "synonym"
                },
                {
                    "name": "PRO21485",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N135-1",
            "evidence": [
                {
                    "id": "617468",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617468"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08964-1",
            "uniprot_ac": "P08964",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-1",
                    "type": "recommended"
                },
                {
                    "name": "Type II myosin",
                    "type": "synonym"
                },
                {
                    "name": "myosin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO1",
                    "type": "recommended"
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                {
                    "name": "MYO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08964-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20795-1",
            "uniprot_ac": "P20795",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 33",
                    "type": "recommended"
                },
                {
                    "name": "Protein SLP1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar morphogenesis protein 5",
                    "type": "synonym"
                },
                {
                    "name": "tethering complex ATP-binding subunit VPS33",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "VPS33",
                    "type": "recommended"
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                {
                    "name": "CLS14",
                    "type": "synonym"
                },
                {
                    "name": "L8084.15",
                    "type": "synonym"
                },
                {
                    "name": "MET27",
                    "type": "synonym"
                },
                {
                    "name": "PEP14",
                    "type": "synonym"
                },
                {
                    "name": "SLP1",
                    "type": "synonym"
                },
                {
                    "name": "VAM5",
                    "type": "synonym"
                },
                {
                    "name": "VPL25",
                    "type": "synonym"
                },
                {
                    "name": "VPS33",
                    "type": "synonym"
                },
                {
                    "name": "VPT33",
                    "type": "synonym"
                }
            ],
            "record_id": "P20795-1",
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                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LEP2-1",
            "uniprot_ac": "A0ABK0LEP2",
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            "refseq_ac": "NP_001406778",
            "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": "Nesprin-1",
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                {
                    "name": "Enaptin",
                    "type": "synonym"
                },
                {
                    "name": "KASH domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Myocyte nuclear envelope protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Nuclear envelope spectrin repeat protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Synaptic nuclear envelope protein 1",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-1-like",
                    "type": "synonym"
                },
                {
                    "name": "nesprin-1",
                    "type": "synonym"
                },
                {
                    "name": "spectrin repeat containing, nuclear envelope 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Syne1",
                    "type": "recommended"
                },
                {
                    "name": "CPG2",
                    "type": "synonym"
                },
                {
                    "name": "Myne-1",
                    "type": "synonym"
                },
                {
                    "name": "Syne1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LEP2-1",
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                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04462-1",
            "uniprot_ac": "P04462",
            "uniprot_id": "MYH8_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-8",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-perinatal",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 8",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, skeletal muscle, perinatal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh8",
                    "type": "recommended"
                }
            ],
            "record_id": "P04462-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63616-1",
            "uniprot_ac": "Q63616",
            "uniprot_id": "VP33B_RAT",
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            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 33B",
                    "type": "recommended"
                },
                {
                    "name": "r-vps33b",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 33 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 33B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting homolog r-vps33b",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps33b",
                    "type": "recommended"
                },
                {
                    "name": "Vps33b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63616-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27768-1",
            "uniprot_ac": "P27768",
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            "refseq_ac": "NP_058881",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I, fast skeletal muscle",
                    "type": "recommended"
                },
                {
                    "name": "Troponin I, fast-twitch isoform",
                    "type": "synonym"
                },
                {
                    "name": "troponin 1, type 2",
                    "type": "synonym"
                },
                {
                    "name": "troponin I type 2 (skeletal, fast)",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, fast skeletal muscle",
                    "type": "synonym"
                },
                {
                    "name": "troponin I, skeletal, fast 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tnni2",
                    "type": "recommended"
                },
                {
                    "name": "Tnni2",
                    "type": "synonym"
                },
                {
                    "name": "Trp1",
                    "type": "synonym"
                }
            ],
            "record_id": "P27768-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9MRD1-1",
            "uniprot_ac": "M9MRD1",
            "uniprot_id": "MS300_DROME",
            "refseq_ac": "NP_001188694",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Muscle-specific protein 300 kDa",
                    "type": "recommended"
                },
                {
                    "name": "Box B-binding factor 1",
                    "type": "synonym"
                },
                {
                    "name": "CG42768-PD",
                    "type": "synonym"
                },
                {
                    "name": "Msp-300",
                    "type": "synonym"
                },
                {
                    "name": "Msp300-PD",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific protein 300 kDa, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific protein 300",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific protein, 300 kDa",
                    "type": "synonym"
                },
                {
                    "name": "Muscle-specific protein-300",
                    "type": "synonym"
                },
                {
                    "name": "Nesprin-like protein Msp300",
                    "type": "synonym"
                },
                {
                    "name": "Nesprin1",
                    "type": "synonym"
                },
                {
                    "name": "lethal(2)25Ch",
                    "type": "synonym"
                },
                {
                    "name": "nesprin",
                    "type": "synonym"
                },
                {
                    "name": "repetitive ORF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Msp300",
                    "type": "recommended"
                },
                {
                    "name": "BBF-1",
                    "type": "synonym"
                },
                {
                    "name": "Bbbf1",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:AT10293",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH02446",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:GH18470",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LP10936",
                    "type": "synonym"
                },
                {
                    "name": "CG14035",
                    "type": "synonym"
                },
                {
                    "name": "CG18251",
                    "type": "synonym"
                },
                {
                    "name": "CG18252",
                    "type": "synonym"
                },
                {
                    "name": "CG31649",
                    "type": "synonym"
                },
                {
                    "name": "CG31916",
                    "type": "synonym"
                },
                {
                    "name": "CG33549",
                    "type": "synonym"
                },
                {
                    "name": "CG33715",
                    "type": "synonym"
                },
                {
                    "name": "CG42768",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42768",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42768",
                    "type": "synonym"
                },
                {
                    "name": "MSP-300",
                    "type": "synonym"
                },
                {
                    "name": "MSP300",
                    "type": "synonym"
                },
                {
                    "name": "Msp-300",
                    "type": "synonym"
                },
                {
                    "name": "Msp300",
                    "type": "synonym"
                },
                {
                    "name": "Spec25CD",
                    "type": "synonym"
                },
                {
                    "name": "dNesp1",
                    "type": "synonym"
                },
                {
                    "name": "jf22",
                    "type": "synonym"
                },
                {
                    "name": "l(2)25Ch",
                    "type": "synonym"
                },
                {
                    "name": "l(2)jf22",
                    "type": "synonym"
                },
                {
                    "name": "msp-300",
                    "type": "synonym"
                },
                {
                    "name": "msp300",
                    "type": "synonym"
                }
            ],
            "record_id": "M9MRD1-1",
            "evidence": [
                {
                    "id": "0080954",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080954"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36188-1",
            "uniprot_ac": "P36188",
            "uniprot_id": "TNNI_DROME",
            "refseq_ac": "NP_523398",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Troponin I",
                    "type": "recommended"
                },
                {
                    "name": "CG7178-PC",
                    "type": "synonym"
                },
                {
                    "name": "Protein heldup",
                    "type": "synonym"
                },
                {
                    "name": "Protein wings apart-A",
                    "type": "synonym"
                },
                {
                    "name": "Tn I",
                    "type": "synonym"
                },
                {
                    "name": "flightless H",
                    "type": "synonym"
                },
                {
                    "name": "flightless-H",
                    "type": "synonym"
                },
                {
                    "name": "haplo-lethal region I",
                    "type": "synonym"
                },
                {
                    "name": "held up",
                    "type": "synonym"
                },
                {
                    "name": "held-up2",
                    "type": "synonym"
                },
                {
                    "name": "heldup-a",
                    "type": "synonym"
                },
                {
                    "name": "troponin I",
                    "type": "synonym"
                },
                {
                    "name": "troponin-I",
                    "type": "synonym"
                },
                {
                    "name": "wings up A, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "wings up",
                    "type": "synonym"
                },
                {
                    "name": "wings-up A",
                    "type": "synonym"
                },
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    "record_id": "doid.0080954"
}