{
    "disease_id": "DOID:0081162",
    "recommended_name": {
        "id": "DOID:0081162",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081162",
        "name": "dilated cardiomyopathy 2F",
        "description": "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has_material_basis_in homozygous mutation in the BAG5 gene on chromosome 14q32."
    },
    "synonyms": [
        {
            "id": "MONDO:0030680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030680",
            "name": "cardiomyopathy, dilated, 2F",
            "description": "A dilated cardiomyopathy that is characterized by refractory ventricular arrhythmias and severe heart failure and that has material basis in homozygous mutation in the BAG5 gene on chromosome 14q32."
        },
        {
            "id": "MONDO:0030680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030680",
            "name": "CMD2F",
            "description": ""
        },
        {
            "id": "MONDO:0030680",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030680",
            "name": "cardiomyopathy, dilated, 2F",
            "description": ""
        },
        {
            "id": "MIM:619747",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619747",
            "name": "Cardiomyopathy, dilated, 2F",
            "description": "Cardiomyopathy, dilated, 2F"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081162"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081162",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081162",
            "categories": []
        },
        {
            "id": "MONDO:0030680",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030680",
            "categories": []
        },
        {
            "id": "MIM:619747",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619747",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A5N0-1",
            "uniprot_ac": "B8A5N0",
            "uniprot_id": "B8A5N0_DANRE",
            "refseq_ac": "NP_001029355",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "BAG family molecular chaperone regulator 5",
                    "type": "recommended"
                },
                {
                    "name": "BAG family molecular chaperone regulator 5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-associated athanogene 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "bag5",
                    "type": "recommended"
                },
                {
                    "name": "bag5",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114117",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A5N0-1",
            "evidence": [
                {
                    "id": "0081162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CI32-1",
            "uniprot_ac": "Q8CI32",
            "uniprot_id": "BAG5_MOUSE",
            "refseq_ac": "NP_001311409",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "BAG family molecular chaperone regulator 5",
                    "type": "recommended"
                },
                {
                    "name": "BAG family molecular chaperone regulator 5",
                    "type": "synonym"
                },
                {
                    "name": "BAG-5",
                    "type": "synonym"
                },
                {
                    "name": "BAG-family molecular chaperone regulator-5 (BAG-5)",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-associated athanogene 5",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-associated athanogene 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bag5",
                    "type": "recommended"
                },
                {
                    "name": "1600025G07Rik",
                    "type": "synonym"
                },
                {
                    "name": "4930405J06Rik",
                    "type": "synonym"
                },
                {
                    "name": "Bag-5",
                    "type": "synonym"
                },
                {
                    "name": "Bag5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CI32-1",
            "evidence": [
                {
                    "id": "0081162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UL15-1",
            "uniprot_ac": "Q9UL15",
            "uniprot_id": "BAG5_HUMAN",
            "refseq_ac": "NP_001015048",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "BAG family molecular chaperone regulator 5",
                    "type": "recommended"
                },
                {
                    "name": "BAG family molecular chaperone regulator 5",
                    "type": "synonym"
                },
                {
                    "name": "BAG-5",
                    "type": "synonym"
                },
                {
                    "name": "BCL2 associated athanogene 5",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-associated athanogene 5",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-associated athanogene 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BAG5",
                    "type": "recommended"
                },
                {
                    "name": "BAG-5",
                    "type": "synonym"
                },
                {
                    "name": "BAG5",
                    "type": "synonym"
                },
                {
                    "name": "CMD2F",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0873",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UL15-1",
            "evidence": [
                {
                    "id": "619747",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619747"
                },
                {
                    "id": "0081162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081162"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5QJC9-1",
            "uniprot_ac": "Q5QJC9",
            "uniprot_id": "BAG5_RAT",
            "refseq_ac": "NP_001008526",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "BAG family molecular chaperone regulator 5",
                    "type": "recommended"
                },
                {
                    "name": "BAG family molecular chaperone regulator 5",
                    "type": "synonym"
                },
                {
                    "name": "BAG-5",
                    "type": "synonym"
                },
                {
                    "name": "BCL2-associated athanogene 5-like 1",
                    "type": "synonym"
                },
                {
                    "name": "BCL2-associated athanogene 5",
                    "type": "synonym"
                },
                {
                    "name": "Bcl-2-associated athanogene 5",
                    "type": "synonym"
                },
                {
                    "name": "bcl-2-associated athanogene 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Bag5",
                    "type": "recommended"
                },
                {
                    "name": "Bag5l1",
                    "type": "synonym"
                },
                {
                    "name": "Bag5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5QJC9-1",
            "evidence": [
                {
                    "id": "0081162",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081162"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081162"
}
