{
    "disease_id": "DOID:0110456",
    "recommended_name": {
        "id": "DOID:0110456",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110456",
        "name": "dilated cardiomyopathy 1R",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the ACTC1 gene on chromosome 15q14."
    },
    "synonyms": [
        {
            "id": "DOID:0110456",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110456",
            "name": "CMD1R",
            "description": ""
        },
        {
            "id": "MONDO:0013261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013261",
            "name": "dilated cardiomyopathy 1R",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene."
        },
        {
            "id": "MONDO:0013261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013261",
            "name": "ACTC1 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013261",
            "name": "CMD1R",
            "description": ""
        },
        {
            "id": "MONDO:0013261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013261",
            "name": "cardiomyopathy, dilated, type 1R",
            "description": ""
        },
        {
            "id": "MONDO:0013261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013261",
            "name": "dilated cardiomyopathy type 1R",
            "description": ""
        },
        {
            "id": "MONDO:0013261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013261",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in ACTC1",
            "description": ""
        },
        {
            "id": "MONDO:0013261",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013261",
            "name": "cardiomyopathy, dilated, 1R",
            "description": ""
        },
        {
            "id": "MIM:613424",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613424",
            "name": "Cardiomyopathy, dilated, 1R",
            "description": "Cardiomyopathy, dilated, 1R"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110456"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110456",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110456",
            "categories": []
        },
        {
            "id": "MONDO:0013261",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013261",
            "categories": []
        },
        {
            "id": "MIM:613424",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613424",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P68033-1",
            "uniprot_ac": "P68033",
            "uniprot_id": "ACTC_MOUSE",
            "refseq_ac": "NP_033738",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, alpha cardiac muscle 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-cardiac actin",
                    "type": "synonym"
                },
                {
                    "name": "actin alpha cardiac",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha cardiac muscle 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-cardiac actin",
                    "type": "synonym"
                },
                {
                    "name": "alphac-actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actc1",
                    "type": "recommended"
                },
                {
                    "name": "Actc-1",
                    "type": "synonym"
                },
                {
                    "name": "Actc1",
                    "type": "synonym"
                },
                {
                    "name": "Actc",
                    "type": "synonym"
                }
            ],
            "record_id": "P68033-1",
            "evidence": [
                {
                    "id": "0110456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68032-1",
            "uniprot_ac": "P68032",
            "uniprot_id": "ACTC_HUMAN",
            "refseq_ac": "NP_005150",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, alpha cardiac muscle 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-cardiac actin",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha cardiac muscle 1 isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACTC1",
                    "type": "recommended"
                },
                {
                    "name": "ACTC1",
                    "type": "synonym"
                },
                {
                    "name": "ACTC",
                    "type": "synonym"
                },
                {
                    "name": "ASD5",
                    "type": "synonym"
                },
                {
                    "name": "CMD1R",
                    "type": "synonym"
                },
                {
                    "name": "CMH11",
                    "type": "synonym"
                },
                {
                    "name": "LVNC4",
                    "type": "synonym"
                }
            ],
            "record_id": "P68032-1",
            "evidence": [
                {
                    "id": "613424",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613424"
                },
                {
                    "id": "0110456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P60010-1",
            "uniprot_ac": "P60010",
            "uniprot_id": "ACT_YEAST",
            "refseq_ac": "NP_116614",
            "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": "Actin",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ACT1",
                    "type": "recommended"
                },
                {
                    "name": "ABY1",
                    "type": "synonym"
                },
                {
                    "name": "ACT1",
                    "type": "synonym"
                },
                {
                    "name": "END7",
                    "type": "synonym"
                }
            ],
            "record_id": "P60010-1",
            "evidence": [
                {
                    "id": "0110456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P68035-1",
            "uniprot_ac": "P68035",
            "uniprot_id": "ACTC_RAT",
            "refseq_ac": "NP_062056",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Actin, alpha cardiac muscle 1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.-",
                    "type": "synonym"
                },
                {
                    "name": "Alpha-cardiac actin",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha cardiac muscle 1",
                    "type": "synonym"
                },
                {
                    "name": "actin, alpha, cardiac 1",
                    "type": "synonym"
                },
                {
                    "name": "alpha-actin cardiac",
                    "type": "synonym"
                },
                {
                    "name": "alpha-cardiac actin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Actc1",
                    "type": "recommended"
                },
                {
                    "name": "Actc1",
                    "type": "synonym"
                },
                {
                    "name": "Actc",
                    "type": "synonym"
                }
            ],
            "record_id": "P68035-1",
            "evidence": [
                {
                    "id": "0110456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110456"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P51800-1",
            "uniprot_ac": "P51800",
            "uniprot_id": "CLCKA_HUMAN",
            "refseq_ac": "NP_001036169",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Chloride channel protein ClC-Ka",
                    "type": "recommended"
                },
                {
                    "name": "Chloride channel Ka",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K1",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel Ka",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Ka isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel protein ClC-Ka",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, kidney, A",
                    "type": "synonym"
                },
                {
                    "name": "chloride channel, voltage-sensitive Ka",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CLCNKA",
                    "type": "recommended"
                },
                {
                    "name": "CLCK1",
                    "type": "synonym"
                },
                {
                    "name": "CLCNKA",
                    "type": "synonym"
                },
                {
                    "name": "ClC-K1",
                    "type": "synonym"
                },
                {
                    "name": "hClC-Ka",
                    "type": "synonym"
                }
            ],
            "record_id": "P51800-1",
            "evidence": [
                {
                    "id": "0110456",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110456"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110456"
}