{
    "disease_id": "DOID:0081164",
    "recommended_name": {
        "id": "DOID:0081164",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081164",
        "name": "obsolete dilated cardiomyopathy 3B",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the gene encoding dystrophin (DMD) on chromosome Xp21."
    },
    "synonyms": [
        {
            "id": "MONDO:0010542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "name": "dilated cardiomyopathy 3B",
            "description": "Any dilated cardiomyopathy in which the cause of the disease is a mutation in the DMD gene."
        },
        {
            "id": "MONDO:0010542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "name": "CMD3B",
            "description": ""
        },
        {
            "id": "MONDO:0010542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "name": "DMD dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0010542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "name": "cardiomyopathy, dilated, type 3B",
            "description": ""
        },
        {
            "id": "MONDO:0010542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "name": "dilated cardiomyopathy 3B",
            "description": ""
        },
        {
            "id": "MONDO:0010542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "name": "dilated cardiomyopathy caused by mutation in DMD",
            "description": ""
        },
        {
            "id": "MONDO:0010542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "name": "dilated cardiomyopathy type 3B",
            "description": ""
        },
        {
            "id": "MONDO:0010542",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "name": "cardiomyopathy, dilated, 3B",
            "description": ""
        },
        {
            "id": "MIM:302045",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/302045",
            "name": "Cardiomyopathy, dilated, 3B",
            "description": "Cardiomyopathy, dilated, 3B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081164"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081164",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081164",
            "categories": []
        },
        {
            "id": "MONDO:0010542",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010542",
            "categories": []
        },
        {
            "id": "MIM:302045",
            "database": "MIM",
            "url": "https://www.omim.org/entry/302045",
            "categories": []
        }
    ],
    "proteins": [
        {
            "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": "302045",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/302045"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081164"
}
