{
    "disease_id": "DOID:0110934",
    "recommended_name": {
        "id": "DOID:0110934",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110934",
        "name": "nemaline myopathy 7",
        "description": "A nemaline myopathy characterized by very early onset of hypotonia and delayed motor development that has_material_basis_in homozygous mutation in the CFL2 gene on chromosome 14q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110934",
            "name": "NEM7",
            "description": ""
        },
        {
            "id": "DOID:0110934",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110934",
            "name": "nemaline myopathy 7, autosomal recessive",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "nemaline myopathy 7",
            "description": "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene."
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "CFL2 nemaline myopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "NEM7",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "nemaline myopathy 7",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "nemaline myopathy caused by mutation in CFL2",
            "description": ""
        },
        {
            "id": "MONDO:0012538",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "name": "nemaline myopathy type 7",
            "description": ""
        },
        {
            "id": "MIM:610687",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610687",
            "name": "Nemaline myopathy 7",
            "description": "Nemaline myopathy 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110934"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110934",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110934",
            "categories": []
        },
        {
            "id": "MONDO:0012538",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012538",
            "categories": []
        },
        {
            "id": "MIM:610687",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610687",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P45591-1",
            "uniprot_ac": "P45591",
            "uniprot_id": "COF2_MOUSE",
            "refseq_ac": "NP_031714",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Cofilin-2",
                    "type": "recommended"
                },
                {
                    "name": "Cofilin, muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "cofilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfl2",
                    "type": "recommended"
                },
                {
                    "name": "Cfl2",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110934",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110934"
                }
            ]
        },
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            "uniprot_ac": "Q9R0P5",
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            "glycoprotein": "yes",
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                    "taxid": 10090,
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                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
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                    "name": "Destrin",
                    "type": "recommended"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "Actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "Sid 23",
                    "type": "synonym"
                },
                {
                    "name": "actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "corneal disease 1",
                    "type": "synonym"
                },
                {
                    "name": "destrin",
                    "type": "synonym"
                },
                {
                    "name": "sid 23",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dstn",
                    "type": "recommended"
                },
                {
                    "name": "2610043P17Rik",
                    "type": "synonym"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "Dsn",
                    "type": "synonym"
                },
                {
                    "name": "Dstn",
                    "type": "synonym"
                },
                {
                    "name": "Sid23",
                    "type": "synonym"
                },
                {
                    "name": "corn1",
                    "type": "synonym"
                },
                {
                    "name": "sid23p",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110934",
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            ]
        },
        {
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cofilin-1",
                    "type": "recommended"
                },
                {
                    "name": "Cofilin, non-muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "cofilin-1",
                    "type": "synonym"
                },
                {
                    "name": "n-cofilin",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Cfl1",
                    "type": "recommended"
                },
                {
                    "name": "Cfl1",
                    "type": "synonym"
                },
                {
                    "name": "Cof",
                    "type": "synonym"
                }
            ],
            "record_id": "P18760-1",
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                {
                    "id": "0110934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y281-1",
            "uniprot_ac": "Q9Y281",
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            "refseq_ac": "NP_001230574",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cofilin-2",
                    "type": "recommended"
                },
                {
                    "name": "Cofilin, muscle isoform",
                    "type": "synonym"
                },
                {
                    "name": "cofilin 2 (muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cofilin-2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "nemaline myopathy type 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFL2",
                    "type": "recommended"
                },
                {
                    "name": "CFL2",
                    "type": "synonym"
                },
                {
                    "name": "NEM7",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y281-1",
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                {
                    "id": "610687",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610687"
                },
                {
                    "id": "0110934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110934"
                }
            ]
        },
        {
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            "uniprot_ac": "P17261",
            "uniprot_id": "ERS1_YEAST",
            "refseq_ac": "NP_010000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cystine transporter",
                    "type": "recommended"
                },
                {
                    "name": "ERD suppressor",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane protein ERS1",
                    "type": "synonym"
                },
                {
                    "name": "cystinosin-like protein ERS1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ERS1",
                    "type": "recommended"
                },
                {
                    "name": "ERS1",
                    "type": "synonym"
                },
                {
                    "name": "YCR75C",
                    "type": "synonym"
                }
            ],
            "record_id": "P17261-1",
            "evidence": [
                {
                    "id": "0110934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03048-1",
            "uniprot_ac": "Q03048",
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            "refseq_ac": "NP_013050",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Cofilin",
                    "type": "recommended"
                },
                {
                    "name": "Actin-depolymerizing factor 1",
                    "type": "synonym"
                },
                {
                    "name": "cofilin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "COF1",
                    "type": "recommended"
                },
                {
                    "name": "COF1",
                    "type": "synonym"
                },
                {
                    "name": "L0596",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03048-1",
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                    "id": "0110934",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "M0RC65-1",
            "uniprot_ac": "M0RC65",
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            "refseq_ac": "NP_001102452",
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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": "Cofilin 2",
                    "type": "synonym"
                },
                {
                    "name": "cofilin 2, muscle",
                    "type": "synonym"
                },
                {
                    "name": "cofilin-2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cfl2",
                    "type": "recommended"
                },
                {
                    "name": "Cfl2",
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                {
                    "id": "0110934",
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        },
        {
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            ],
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                },
                {
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            ],
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                    "id": "0110934",
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            ]
        },
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                }
            ],
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                    "name": "Cofilin-1",
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                    "name": "cofilin 1, non-muscle",
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                {
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                    "id": "0110934",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
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            ],
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                    "name": "ADF-H domain-containing protein",
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                {
                    "name": "Adf/cofilin-like",
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                },
                {
                    "name": "CG6873-PA",
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                {
                    "name": "cofilin homologue",
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                    "name": "uncharacterized protein",
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                    "name": "adf",
                    "type": "recommended"
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                    "name": "Dmel\\CG6873",
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                {
                    "name": "Dmel_CG6873",
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                {
                    "name": "adf",
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                    "id": "0110934",
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            ]
        },
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            "uniprot_canonical_ac": "P45594-1",
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                }
            ],
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                    "name": "ADFcofilin",
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                    "name": "CG4254-PA",
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                {
                    "name": "Cofilin/actin depolymerizing factor-like",
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                {
                    "name": "DCofilin",
                    "type": "synonym"
                },
                {
                    "name": "Protein D61",
                    "type": "synonym"
                },
                {
                    "name": "Protein twinstar",
                    "type": "synonym"
                },
                {
                    "name": "actin-depolymerizing factor",
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                },
                {
                    "name": "cofilin",
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                {
                    "name": "no terminal filament",
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                {
                    "name": "tsr-PA",
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                {
                    "name": "twin star",
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                {
                    "name": "twinstar",
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            ],
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                    "name": "12/8",
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                    "name": "ADF/cofilin",
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                {
                    "name": "ADF",
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                },
                {
                    "name": "Adf",
                    "type": "synonym"
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                {
                    "name": "CG4254",
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                {
                    "name": "Cadf",
                    "type": "synonym"
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                {
                    "name": "Cfl",
                    "type": "synonym"
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                {
                    "name": "Cofilin",
                    "type": "synonym"
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                {
                    "name": "D-cof",
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                    "name": "D61",
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                {
                    "name": "DmCFL",
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                {
                    "name": "Dmel\\CG4254",
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                {
                    "name": "T8",
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                {
                    "name": "Tsr",
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                {
                    "name": "Twinstar",
                    "type": "synonym"
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                    "name": "cfl",
                    "type": "synonym"
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                {
                    "name": "cofilin/ADF",
                    "type": "synonym"
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                {
                    "name": "cofilin/actin depolymerizing factor homolog",
                    "type": "synonym"
                },
                {
                    "name": "cofilin",
                    "type": "synonym"
                },
                {
                    "name": "l(2)03101",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k03101",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k05633",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k13409",
                    "type": "synonym"
                },
                {
                    "name": "ntf",
                    "type": "synonym"
                },
                {
                    "name": "tsr",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0110934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23528-1",
            "uniprot_ac": "P23528",
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            "refseq_ac": "NP_005498",
            "glycoprotein": "yes",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Cofilin-1",
                    "type": "recommended"
                },
                {
                    "name": "18 kDa phosphoprotein",
                    "type": "synonym"
                },
                {
                    "name": "Cofilin, non-muscle isoform",
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                },
                {
                    "name": "cofilin 1 (non-muscle)",
                    "type": "synonym"
                },
                {
                    "name": "cofilin-1",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 15",
                    "type": "synonym"
                },
                {
                    "name": "p18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CFL1",
                    "type": "recommended"
                },
                {
                    "name": "CFL1",
                    "type": "synonym"
                },
                {
                    "name": "CFL",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-15",
                    "type": "synonym"
                },
                {
                    "name": "cofilin",
                    "type": "synonym"
                }
            ],
            "record_id": "P23528-1",
            "evidence": [
                {
                    "id": "0110934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110934"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60981-1",
            "uniprot_ac": "P60981",
            "uniprot_id": "DEST_HUMAN",
            "refseq_ac": "NP_001011546",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Destrin",
                    "type": "recommended"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "Actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "actin-depolymerizing factor",
                    "type": "synonym"
                },
                {
                    "name": "bA462D18.2 (destrin (actin depolymerizing factor ADF) (ACTDP))",
                    "type": "synonym"
                },
                {
                    "name": "destrin isoform b",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 32",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSTN",
                    "type": "recommended"
                },
                {
                    "name": "ACTDP",
                    "type": "synonym"
                },
                {
                    "name": "ADF",
                    "type": "synonym"
                },
                {
                    "name": "DSN",
                    "type": "synonym"
                },
                {
                    "name": "DSTN",
                    "type": "synonym"
                },
                {
                    "name": "HEL32",
                    "type": "synonym"
                },
                {
                    "name": "bA462D18.2",
                    "type": "synonym"
                }
            ],
            "record_id": "P60981-1",
            "evidence": [
                {
                    "id": "0110934",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110934"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110934"
}