{
    "disease_id": "DOID:0110458",
    "recommended_name": {
        "id": "DOID:0110458",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110458",
        "name": "dilated cardiomyopathy 1BB",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation the DSG2 gene on chromosome 18q12.1."
    },
    "synonyms": [
        {
            "id": "DOID:0110458",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110458",
            "name": "CMD1BB",
            "description": ""
        },
        {
            "id": "MONDO:0013030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013030",
            "name": "dilated cardiomyopathy 1BB",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene."
        },
        {
            "id": "MONDO:0013030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013030",
            "name": "CMD1BB",
            "description": ""
        },
        {
            "id": "MONDO:0013030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013030",
            "name": "DSG2 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013030",
            "name": "cardiomyopathy, dilated, type 1Bb",
            "description": ""
        },
        {
            "id": "MONDO:0013030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013030",
            "name": "dilated cardiomyopathy type 1BB",
            "description": ""
        },
        {
            "id": "MONDO:0013030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013030",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in DSG2",
            "description": ""
        },
        {
            "id": "MONDO:0013030",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013030",
            "name": "cardiomyopathy, dilated, 1BB",
            "description": ""
        },
        {
            "id": "MIM:612877",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612877",
            "name": "Cardiomyopathy, dilated, 1BB",
            "description": "Cardiomyopathy, dilated, 1BB"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110458"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110458",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110458",
            "categories": []
        },
        {
            "id": "MONDO:0013030",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013030",
            "categories": []
        },
        {
            "id": "MIM:612877",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612877",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "H2EQR6-1",
            "uniprot_ac": "H2EQR6",
            "uniprot_id": "DSG21_DANRE",
            "refseq_ac": "NP_001243566",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-2.1",
                    "type": "recommended"
                },
                {
                    "name": "Dsg alpha",
                    "type": "synonym"
                },
                {
                    "name": "desmocollin a",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-2.1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-2.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dsg2.1",
                    "type": "recommended"
                },
                {
                    "name": "dsc",
                    "type": "synonym"
                },
                {
                    "name": "dsg2.1",
                    "type": "synonym"
                },
                {
                    "name": "dsg2",
                    "type": "synonym"
                },
                {
                    "name": "dsga",
                    "type": "synonym"
                },
                {
                    "name": "si:dkeyp-51f12.6",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj23f02",
                    "type": "synonym"
                }
            ],
            "record_id": "H2EQR6-1",
            "evidence": [
                {
                    "id": "0110458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M2BIB6-1",
            "uniprot_ac": "A0A8M2BIB6",
            "uniprot_id": "DSG2L_DANRE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-2-like protein",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "dsg2l",
                    "type": "recommended"
                },
                {
                    "name": "dsgb",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2BIB6-1",
            "evidence": [
                {
                    "id": "0110458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55111-1",
            "uniprot_ac": "O55111",
            "uniprot_id": "DSG2_MOUSE",
            "refseq_ac": "NP_031909",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-2",
                    "type": "recommended"
                },
                {
                    "name": "desmoglein-2 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsg2",
                    "type": "recommended"
                },
                {
                    "name": "D18Ertd293e",
                    "type": "synonym"
                },
                {
                    "name": "Dsg2",
                    "type": "synonym"
                }
            ],
            "record_id": "O55111-1",
            "evidence": [
                {
                    "id": "0110458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q14126-1",
            "uniprot_ac": "Q14126",
            "uniprot_id": "DSG2_HUMAN",
            "refseq_ac": "NP_001934",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein-2",
                    "type": "recommended"
                },
                {
                    "name": "Cadherin family member 5",
                    "type": "synonym"
                },
                {
                    "name": "HDGC",
                    "type": "synonym"
                },
                {
                    "name": "cadherin family member 5",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-2 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DSG2",
                    "type": "recommended"
                },
                {
                    "name": "CDHF5",
                    "type": "synonym"
                },
                {
                    "name": "DSG2",
                    "type": "synonym"
                },
                {
                    "name": "HDGC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q14126-1",
            "evidence": [
                {
                    "id": "612877",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612877"
                },
                {
                    "id": "0110458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LYX9-1",
            "uniprot_ac": "F1LYX9",
            "uniprot_id": "F1LYX9_RAT",
            "refseq_ac": "NP_001414207",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Desmoglein 2",
                    "type": "synonym"
                },
                {
                    "name": "desmoglein-2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dsg2",
                    "type": "recommended"
                },
                {
                    "name": "Dsg2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LYX9-1",
            "evidence": [
                {
                    "id": "0110458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110458"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P12526-1",
            "uniprot_ac": "P12526",
            "uniprot_id": "MAS_RAT",
            "refseq_ac": "NP_036889",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Proto-oncogene Mas",
                    "type": "recommended"
                },
                {
                    "name": "MAS proto-oncogene",
                    "type": "synonym"
                },
                {
                    "name": "MAS1 oncogene",
                    "type": "synonym"
                },
                {
                    "name": "Mas-related G protein-coupled receptor a",
                    "type": "synonym"
                },
                {
                    "name": "angiotensin-(1-7) receptor",
                    "type": "synonym"
                },
                {
                    "name": "proto-oncogene Mas",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mas1",
                    "type": "recommended"
                },
                {
                    "name": "Mas-1",
                    "type": "synonym"
                },
                {
                    "name": "Mas1",
                    "type": "synonym"
                },
                {
                    "name": "Mas",
                    "type": "synonym"
                },
                {
                    "name": "Mgra",
                    "type": "synonym"
                },
                {
                    "name": "c-mas",
                    "type": "synonym"
                }
            ],
            "record_id": "P12526-1",
            "evidence": [
                {
                    "id": "0110458",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110458"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110458"
}