{
    "disease_id": "DOID:0110446",
    "recommended_name": {
        "id": "DOID:0110446",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110446",
        "name": "dilated cardiomyopathy 1W",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the VCL gene on chromosome 10q22.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110446",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110446",
            "name": "CMD1W",
            "description": ""
        },
        {
            "id": "MONDO:0012667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012667",
            "name": "dilated cardiomyopathy 1W",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the VCL gene."
        },
        {
            "id": "MONDO:0012667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012667",
            "name": "CMD1W",
            "description": ""
        },
        {
            "id": "MONDO:0012667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012667",
            "name": "VCL familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0012667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012667",
            "name": "cardiomyopathy, dilated, type 1W",
            "description": ""
        },
        {
            "id": "MONDO:0012667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012667",
            "name": "dilated cardiomyopathy type 1W",
            "description": ""
        },
        {
            "id": "MONDO:0012667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012667",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in VCL",
            "description": ""
        },
        {
            "id": "MONDO:0012667",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012667",
            "name": "cardiomyopathy, dilated, 1W",
            "description": ""
        },
        {
            "id": "MIM:611407",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/611407",
            "name": "Cardiomyopathy, dilated, 1W",
            "description": "Cardiomyopathy, dilated, 1W"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110446"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110446",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110446",
            "categories": []
        },
        {
            "id": "MONDO:0012667",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012667",
            "categories": []
        },
        {
            "id": "MIM:611407",
            "database": "MIM",
            "url": "https://www.omim.org/entry/611407",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q64727-1",
            "uniprot_ac": "Q64727",
            "uniprot_id": "VINC_MOUSE",
            "refseq_ac": "NP_033528",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vinculin",
                    "type": "recommended"
                },
                {
                    "name": "Metavinculin",
                    "type": "synonym"
                },
                {
                    "name": "metavinculin",
                    "type": "synonym"
                },
                {
                    "name": "vinculin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vcl",
                    "type": "recommended"
                },
                {
                    "name": "9430097D22",
                    "type": "synonym"
                },
                {
                    "name": "Vcl",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64727-1",
            "evidence": [
                {
                    "id": "0110446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18206-1",
            "uniprot_ac": "P18206",
            "uniprot_id": "VINC_HUMAN",
            "refseq_ac": "NP_003364",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vinculin",
                    "type": "recommended"
                },
                {
                    "name": "MV",
                    "type": "synonym"
                },
                {
                    "name": "Metavinculin",
                    "type": "synonym"
                },
                {
                    "name": "epididymis luminal protein 114",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                },
                {
                    "name": "meta-vinculin",
                    "type": "synonym"
                },
                {
                    "name": "metavinculin",
                    "type": "synonym"
                },
                {
                    "name": "vinculin isoform VCL",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VCL",
                    "type": "recommended"
                },
                {
                    "name": "CMD1W",
                    "type": "synonym"
                },
                {
                    "name": "CMH15",
                    "type": "synonym"
                },
                {
                    "name": "HEL114",
                    "type": "synonym"
                },
                {
                    "name": "MVCL",
                    "type": "synonym"
                },
                {
                    "name": "MV",
                    "type": "synonym"
                },
                {
                    "name": "VCL",
                    "type": "synonym"
                },
                {
                    "name": "VINC",
                    "type": "synonym"
                }
            ],
            "record_id": "P18206-1",
            "evidence": [
                {
                    "id": "611407",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/611407"
                },
                {
                    "id": "0110446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P85972-1",
            "uniprot_ac": "P85972",
            "uniprot_id": "VINC_RAT",
            "refseq_ac": "NP_001100718",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vinculin",
                    "type": "recommended"
                },
                {
                    "name": "Metavinculin",
                    "type": "synonym"
                },
                {
                    "name": "metavinculin",
                    "type": "synonym"
                },
                {
                    "name": "vinculin isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vcl",
                    "type": "recommended"
                },
                {
                    "name": "Vcl",
                    "type": "synonym"
                }
            ],
            "record_id": "P85972-1",
            "evidence": [
                {
                    "id": "0110446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110446"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O46037-1",
            "uniprot_ac": "O46037",
            "uniprot_id": "VINC_DROME",
            "refseq_ac": "NP_001284813",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vinculin",
                    "type": "recommended"
                },
                {
                    "name": "CG3299-PB",
                    "type": "synonym"
                },
                {
                    "name": "Vinc-PB",
                    "type": "synonym"
                },
                {
                    "name": "vinculin at 2EF",
                    "type": "synonym"
                },
                {
                    "name": "vinculin, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vinc",
                    "type": "recommended"
                },
                {
                    "name": "CG3299",
                    "type": "synonym"
                },
                {
                    "name": "CT11081",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3299",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3299",
                    "type": "synonym"
                },
                {
                    "name": "Dmvincp",
                    "type": "synonym"
                },
                {
                    "name": "EG:103B4.1",
                    "type": "synonym"
                },
                {
                    "name": "VINC",
                    "type": "synonym"
                },
                {
                    "name": "Vin2EF",
                    "type": "synonym"
                },
                {
                    "name": "Vinc",
                    "type": "synonym"
                },
                {
                    "name": "Vin",
                    "type": "synonym"
                },
                {
                    "name": "vinc",
                    "type": "synonym"
                }
            ],
            "record_id": "O46037-1",
            "evidence": [
                {
                    "id": "0110446",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110446"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110446"
}