{
    "disease_id": "DOID:0110461",
    "recommended_name": {
        "id": "DOID:0110461",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110461",
        "name": "dilated cardiomyopathy 3B",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the dystrophin (DMD) gene encoding dystrophin on chromosome Xp21."
    },
    "synonyms": [
        {
            "id": "DOID:0110461",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110461",
            "name": "CMD3B",
            "description": ""
        },
        {
            "id": "DOID:0110461",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110461",
            "name": "DMD-related dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "DOID:0110461",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110461",
            "name": "X-linked dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "DOID:0110461",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110461",
            "name": "XLCM",
            "description": ""
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110461"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110461",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110461",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IXX0-1",
            "uniprot_ac": "A0A0R4IXX0",
            "uniprot_id": "A0A0R4IXX0_DANRE",
            "refseq_ac": "NP_001313616",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystrophin",
                    "type": "recommended"
                },
                {
                    "name": "Duchenne muscular dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "sapje-like",
                    "type": "synonym"
                },
                {
                    "name": "sapje",
                    "type": "synonym"
                },
                {
                    "name": "sap",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dmd",
                    "type": "recommended"
                },
                {
                    "name": "Dp71",
                    "type": "synonym"
                },
                {
                    "name": "cb664",
                    "type": "synonym"
                },
                {
                    "name": "dmd",
                    "type": "synonym"
                },
                {
                    "name": "im:6911785",
                    "type": "synonym"
                },
                {
                    "name": "zfDYS",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110165",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IXX0-1",
            "evidence": [
                {
                    "id": "0110461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11531-1",
            "uniprot_ac": "P11531",
            "uniprot_id": "DMD_MOUSE",
            "refseq_ac": "NP_031894",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystrophin",
                    "type": "recommended"
                },
                {
                    "name": "X-linked muscular dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin Dp427-E40e",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin Dp71d(delta71,73-74)",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin Dp71f-delta71,74",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin E40e",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin E51b",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin delta-E40e",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmd",
                    "type": "recommended"
                },
                {
                    "name": "DXSmh7",
                    "type": "synonym"
                },
                {
                    "name": "DXSmh9",
                    "type": "synonym"
                },
                {
                    "name": "Dmd",
                    "type": "synonym"
                },
                {
                    "name": "Dp427",
                    "type": "synonym"
                },
                {
                    "name": "Dp71",
                    "type": "synonym"
                },
                {
                    "name": "dys",
                    "type": "synonym"
                },
                {
                    "name": "mdx",
                    "type": "synonym"
                },
                {
                    "name": "pke",
                    "type": "synonym"
                }
            ],
            "record_id": "P11531-1",
            "evidence": [
                {
                    "id": "0110461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11530-1",
            "uniprot_ac": "P11530",
            "uniprot_id": "DMD_RAT",
            "refseq_ac": "NP_001357805",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystrophin",
                    "type": "recommended"
                },
                {
                    "name": "apodystrophin-3",
                    "type": "synonym"
                },
                {
                    "name": "apodystrophin-I",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin, muscular dystrophy",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin-related",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmd",
                    "type": "recommended"
                },
                {
                    "name": "DNADMD1",
                    "type": "synonym"
                },
                {
                    "name": "Dmd",
                    "type": "synonym"
                }
            ],
            "record_id": "P11530-1",
            "evidence": [
                {
                    "id": "0110461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64632-1",
            "uniprot_ac": "Q64632",
            "uniprot_id": "ITB4_RAT",
            "refseq_ac": "NP_037312",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Integrin beta-4",
                    "type": "recommended"
                },
                {
                    "name": "GP150",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta-4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "integrin beta-4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Itgb4",
                    "type": "recommended"
                },
                {
                    "name": "Itgb4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64632-1",
            "evidence": [
                {
                    "id": "0110461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDW6-5",
            "uniprot_ac": "Q9VDW6",
            "uniprot_id": "DMDA_DROME",
            "refseq_ac": "NP_001036722",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystrophin, isoforms A/C/F/G/H",
                    "type": "recommended"
                },
                {
                    "name": "CG34157-PH",
                    "type": "synonym"
                },
                {
                    "name": "DmDYS",
                    "type": "synonym"
                },
                {
                    "name": "Dys-PH",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-like protein 186",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Dystrophin-like protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein detached",
                    "type": "synonym"
                },
                {
                    "name": "detached",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin Dp186",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "dystrophin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dys",
                    "type": "recommended"
                },
                {
                    "name": "CG17750",
                    "type": "synonym"
                },
                {
                    "name": "CG31175",
                    "type": "synonym"
                },
                {
                    "name": "CG34157",
                    "type": "synonym"
                },
                {
                    "name": "CG7240",
                    "type": "synonym"
                },
                {
                    "name": "CG7243",
                    "type": "synonym"
                },
                {
                    "name": "CG7344",
                    "type": "synonym"
                },
                {
                    "name": "DLP186",
                    "type": "synonym"
                },
                {
                    "name": "DLP1",
                    "type": "synonym"
                },
                {
                    "name": "DLP2",
                    "type": "synonym"
                },
                {
                    "name": "DLP3",
                    "type": "synonym"
                },
                {
                    "name": "DLP",
                    "type": "synonym"
                },
                {
                    "name": "DYS",
                    "type": "synonym"
                },
                {
                    "name": "DmDLP",
                    "type": "synonym"
                },
                {
                    "name": "DmDYS",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG34157",
                    "type": "synonym"
                },
                {
                    "name": "Dp117",
                    "type": "synonym"
                },
                {
                    "name": "Dp186",
                    "type": "synonym"
                },
                {
                    "name": "Dp205",
                    "type": "synonym"
                },
                {
                    "name": "Dys",
                    "type": "synonym"
                },
                {
                    "name": "GI3046716",
                    "type": "synonym"
                },
                {
                    "name": "IDLP",
                    "type": "synonym"
                },
                {
                    "name": "det",
                    "type": "synonym"
                },
                {
                    "name": "dmDLP",
                    "type": "synonym"
                },
                {
                    "name": "dmDp186",
                    "type": "synonym"
                },
                {
                    "name": "dmDys",
                    "type": "synonym"
                },
                {
                    "name": "dys",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDW6-5",
            "evidence": [
                {
                    "id": "0110461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110461"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11532-1",
            "uniprot_ac": "P11532",
            "uniprot_id": "DMD_HUMAN",
            "refseq_ac": "NP_004000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dystrophin",
                    "type": "recommended"
                },
                {
                    "name": "dystrophin isoform Dp427p1",
                    "type": "synonym"
                },
                {
                    "name": "mutant dystrophin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DMD",
                    "type": "recommended"
                },
                {
                    "name": "BMD",
                    "type": "synonym"
                },
                {
                    "name": "CMD3B",
                    "type": "synonym"
                },
                {
                    "name": "DMD",
                    "type": "synonym"
                },
                {
                    "name": "DXS142",
                    "type": "synonym"
                },
                {
                    "name": "DXS164",
                    "type": "synonym"
                },
                {
                    "name": "DXS206",
                    "type": "synonym"
                },
                {
                    "name": "DXS230",
                    "type": "synonym"
                },
                {
                    "name": "DXS239",
                    "type": "synonym"
                },
                {
                    "name": "DXS268",
                    "type": "synonym"
                },
                {
                    "name": "DXS269",
                    "type": "synonym"
                },
                {
                    "name": "DXS270",
                    "type": "synonym"
                },
                {
                    "name": "DXS272",
                    "type": "synonym"
                },
                {
                    "name": "MRX85",
                    "type": "synonym"
                }
            ],
            "record_id": "P11532-1",
            "evidence": [
                {
                    "id": "0110461",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110461"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110461"
}
