{
    "disease_id": "DOID:0110453",
    "recommended_name": {
        "id": "DOID:0110453",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110453",
        "name": "dilated cardiomyopathy 1EE",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH6 gene on chromosome 14q11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0110453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110453",
            "name": "CMD1EE",
            "description": ""
        },
        {
            "id": "MONDO:0013198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013198",
            "name": "dilated cardiomyopathy 1EE",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the MYH6 gene."
        },
        {
            "id": "MONDO:0013198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013198",
            "name": "CMD1EE",
            "description": ""
        },
        {
            "id": "MONDO:0013198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013198",
            "name": "MYH6 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013198",
            "name": "cardiomyopathy, dilated, type 1Ee",
            "description": ""
        },
        {
            "id": "MONDO:0013198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013198",
            "name": "dilated cardiomyopathy type 1EE",
            "description": ""
        },
        {
            "id": "MONDO:0013198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013198",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in MYH6",
            "description": ""
        },
        {
            "id": "MONDO:0013198",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013198",
            "name": "cardiomyopathy, dilated, 1EE",
            "description": ""
        },
        {
            "id": "MIM:613252",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613252",
            "name": "Cardiomyopathy, dilated, 1EE",
            "description": "Cardiomyopathy, dilated, 1EE"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110453"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110453",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110453",
            "categories": []
        },
        {
            "id": "MONDO:0013198",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013198",
            "categories": []
        },
        {
            "id": "MIM:613252",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613252",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B7H9-1",
            "uniprot_ac": "A0ACD6B7H9",
            "uniprot_id": "A0ACD6B7H9_DANRE",
            "refseq_ac": "XP_005162977",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Slow myosin heavy chain 1 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "slow myosin heavy chain 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "smyhc1",
                    "type": "recommended"
                },
                {
                    "name": "fb18g10",
                    "type": "synonym"
                },
                {
                    "name": "im:6897999",
                    "type": "synonym"
                },
                {
                    "name": "smyhc1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb18g10",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B7H9-1",
            "evidence": [
                {
                    "id": "0110453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1QZW1-1",
            "uniprot_ac": "F1QZW1",
            "uniprot_id": "F1QZW1_DANRE",
            "refseq_ac": "NP_001106204",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-7",
                    "type": "synonym"
                },
                {
                    "name": "myosin-7",
                    "type": "synonym"
                },
                {
                    "name": "ventricular myosin heavy chain",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myh7",
                    "type": "recommended"
                },
                {
                    "name": "hm:zeh0269",
                    "type": "synonym"
                },
                {
                    "name": "mg:cb02g011",
                    "type": "synonym"
                },
                {
                    "name": "myh7",
                    "type": "synonym"
                },
                {
                    "name": "smyhc3",
                    "type": "synonym"
                },
                {
                    "name": "vmhc",
                    "type": "synonym"
                },
                {
                    "name": "zeh0269",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QZW1-1",
            "evidence": [
                {
                    "id": "0110453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02566-1",
            "uniprot_ac": "Q02566",
            "uniprot_id": "MYH6_MOUSE",
            "refseq_ac": "NP_001157643",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-6",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 6",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, cardiac muscle alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "alpha cardiac MHC",
                    "type": "synonym"
                },
                {
                    "name": "alpha myosin",
                    "type": "synonym"
                },
                {
                    "name": "cardiomyopathy, hypertrophic 1",
                    "type": "synonym"
                },
                {
                    "name": "myHC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain 6",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, cardiac muscle, adult",
                    "type": "synonym"
                },
                {
                    "name": "myosin-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh6",
                    "type": "recommended"
                },
                {
                    "name": "A830009F23Rik",
                    "type": "synonym"
                },
                {
                    "name": "Myh6",
                    "type": "synonym"
                },
                {
                    "name": "Myhc-a",
                    "type": "synonym"
                },
                {
                    "name": "Myhca",
                    "type": "synonym"
                },
                {
                    "name": "alpha-MHC",
                    "type": "synonym"
                },
                {
                    "name": "alphaMHC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02566-1",
            "evidence": [
                {
                    "id": "0110453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13533-1",
            "uniprot_ac": "P13533",
            "uniprot_id": "MYH6_HUMAN",
            "refseq_ac": "NP_002462",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-6",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 6",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, cardiac muscle alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "myHC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)",
                    "type": "synonym"
                },
                {
                    "name": "myosin-6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYH6",
                    "type": "recommended"
                },
                {
                    "name": "ASD3",
                    "type": "synonym"
                },
                {
                    "name": "CMD1EE",
                    "type": "synonym"
                },
                {
                    "name": "CMH14",
                    "type": "synonym"
                },
                {
                    "name": "MYH6",
                    "type": "synonym"
                },
                {
                    "name": "MYHCA",
                    "type": "synonym"
                },
                {
                    "name": "MYHC",
                    "type": "synonym"
                },
                {
                    "name": "SSS3",
                    "type": "synonym"
                },
                {
                    "name": "alpha-MHC",
                    "type": "synonym"
                }
            ],
            "record_id": "P13533-1",
            "evidence": [
                {
                    "id": "613252",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613252"
                },
                {
                    "id": "0110453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08964-1",
            "uniprot_ac": "P08964",
            "uniprot_id": "MYO1_YEAST",
            "refseq_ac": "NP_011888",
            "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": "Myosin-1",
                    "type": "recommended"
                },
                {
                    "name": "Type II myosin",
                    "type": "synonym"
                },
                {
                    "name": "myosin 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MYO1",
                    "type": "recommended"
                },
                {
                    "name": "MYO1",
                    "type": "synonym"
                }
            ],
            "record_id": "P08964-1",
            "evidence": [
                {
                    "id": "0110453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02563-1",
            "uniprot_ac": "P02563",
            "uniprot_id": "MYH6_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin-6",
                    "type": "recommended"
                },
                {
                    "name": "MyHC-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain 6",
                    "type": "synonym"
                },
                {
                    "name": "Myosin heavy chain, cardiac muscle alpha isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Myh6",
                    "type": "recommended"
                }
            ],
            "record_id": "P02563-1",
            "evidence": [
                {
                    "id": "0110453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05661-3",
            "uniprot_ac": "P05661",
            "uniprot_id": "MYSA_DROME",
            "refseq_ac": "NP_001162991",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Myosin heavy chain, muscle",
                    "type": "recommended"
                },
                {
                    "name": "CG17927-PO",
                    "type": "synonym"
                },
                {
                    "name": "Mhc-PO",
                    "type": "synonym"
                },
                {
                    "name": "Not-upheld",
                    "type": "synonym"
                },
                {
                    "name": "Shrunken-thorax",
                    "type": "synonym"
                },
                {
                    "name": "beta-myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "indirect flight muscle (2) RU1",
                    "type": "synonym"
                },
                {
                    "name": "indirect flight muscle (2) RU2",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin II heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "muscle myosin-II",
                    "type": "synonym"
                },
                {
                    "name": "muscle specific myosin II",
                    "type": "synonym"
                },
                {
                    "name": "myosin HC",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy Chain-PF",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain, isoform O",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "myosin heavy-chain protein",
                    "type": "synonym"
                },
                {
                    "name": "myosin rod protein",
                    "type": "synonym"
                },
                {
                    "name": "myosin-heavy chain",
                    "type": "synonym"
                },
                {
                    "name": "samba",
                    "type": "synonym"
                },
                {
                    "name": "sarcomeric myosin heavy-chain",
                    "type": "synonym"
                },
                {
                    "name": "shrunken thorax",
                    "type": "synonym"
                },
                {
                    "name": "stuckup",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mhc",
                    "type": "recommended"
                },
                {
                    "name": "Bsh",
                    "type": "synonym"
                },
                {
                    "name": "CG17927",
                    "type": "synonym"
                },
                {
                    "name": "DROMHC",
                    "type": "synonym"
                },
                {
                    "name": "Dm II",
                    "type": "synonym"
                },
                {
                    "name": "DmMHC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17927",
                    "type": "synonym"
                },
                {
                    "name": "DroMII",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(2)2",
                    "type": "synonym"
                },
                {
                    "name": "Ifm(2)RU1",
                    "type": "synonym"
                },
                {
                    "name": "MHC",
                    "type": "synonym"
                },
                {
                    "name": "MRP",
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                },
                {
                    "name": "Mhc36B",
                    "type": "synonym"
                },
                {
                    "name": "Mhc",
                    "type": "synonym"
                },
                {
                    "name": "Mrp",
                    "type": "synonym"
                },
                {
                    "name": "MyHC",
                    "type": "synonym"
                },
                {
                    "name": "Myo6",
                    "type": "synonym"
                },
                {
                    "name": "Myosin",
                    "type": "synonym"
                },
                {
                    "name": "Myo",
                    "type": "synonym"
                },
                {
                    "name": "Nup",
                    "type": "synonym"
                },
                {
                    "name": "Sht",
                    "type": "synonym"
                },
                {
                    "name": "Stp",
                    "type": "synonym"
                },
                {
                    "name": "chr2L:16765388..16765564",
                    "type": "synonym"
                },
                {
                    "name": "chr2L:16781880..16782040",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)2",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)RU1",
                    "type": "synonym"
                },
                {
                    "name": "ifm(2)RU2",
                    "type": "synonym"
                },
                {
                    "name": "l(2)36Ae",
                    "type": "synonym"
                },
                {
                    "name": "l(2)M66",
                    "type": "synonym"
                },
                {
                    "name": "l(2)k10423",
                    "type": "synonym"
                },
                {
                    "name": "mMHC",
                    "type": "synonym"
                },
                {
                    "name": "mhc",
                    "type": "synonym"
                },
                {
                    "name": "sMHC",
                    "type": "synonym"
                }
            ],
            "record_id": "P05661-3",
            "evidence": [
                {
                    "id": "0110453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110453"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110453"
}