{
    "disease_id": "DOID:0110441",
    "recommended_name": {
        "id": "DOID:0110441",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110441",
        "name": "dilated cardiomyopathy 2B",
        "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the GATAD1 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110441",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110441",
            "name": "CMD2B",
            "description": ""
        },
        {
            "id": "MONDO:0013848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "name": "dilated cardiomyopathy 2B",
            "description": "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the GATAD1 gene."
        },
        {
            "id": "MONDO:0013848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "name": "CMD2B",
            "description": ""
        },
        {
            "id": "MONDO:0013848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "name": "GATAD1 familial isolated dilated cardiomyopathy",
            "description": ""
        },
        {
            "id": "MONDO:0013848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "name": "cardiomyopathy, dilated, type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0013848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "name": "dilated cardiomyopathy 2B",
            "description": ""
        },
        {
            "id": "MONDO:0013848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "name": "dilated cardiomyopathy type 2B",
            "description": ""
        },
        {
            "id": "MONDO:0013848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "name": "familial isolated dilated cardiomyopathy caused by mutation in GATAD1",
            "description": ""
        },
        {
            "id": "MONDO:0013848",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "name": "cardiomyopathy, dilated, 2B",
            "description": ""
        },
        {
            "id": "MIM:614672",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614672",
            "name": "Cardiomyopathy, dilated, 2B",
            "description": "Cardiomyopathy, dilated, 2B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110441"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110441",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110441",
            "categories": []
        },
        {
            "id": "MONDO:0013848",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013848",
            "categories": []
        },
        {
            "id": "MIM:614672",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614672",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q1L8G7-1",
            "uniprot_ac": "Q1L8G7",
            "uniprot_id": "GATD1_DANRE",
            "refseq_ac": "NP_001035454",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA zinc finger domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GATA zinc finger domain-containing protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gatad1",
                    "type": "recommended"
                },
                {
                    "name": "gatad1",
                    "type": "synonym"
                },
                {
                    "name": "im:7150682",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-231l1.7",
                    "type": "synonym"
                },
                {
                    "name": "zgc:136582",
                    "type": "synonym"
                }
            ],
            "record_id": "Q1L8G7-1",
            "evidence": [
                {
                    "id": "0110441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q920S3-1",
            "uniprot_ac": "Q920S3",
            "uniprot_id": "GATD1_MOUSE",
            "refseq_ac": "NP_080309",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA zinc finger domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GATA zinc finger domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Ocular development-associated gene protein",
                    "type": "synonym"
                },
                {
                    "name": "ocular development associated",
                    "type": "synonym"
                },
                {
                    "name": "ocular development-associated gene protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gatad1",
                    "type": "recommended"
                },
                {
                    "name": "2310031E19Rik",
                    "type": "synonym"
                },
                {
                    "name": "2810047M21Rik",
                    "type": "synonym"
                },
                {
                    "name": "8430439A17Rik",
                    "type": "synonym"
                },
                {
                    "name": "9130430G15Rik",
                    "type": "synonym"
                },
                {
                    "name": "B330017N08Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gatad1",
                    "type": "synonym"
                },
                {
                    "name": "Odag",
                    "type": "synonym"
                }
            ],
            "record_id": "Q920S3-1",
            "evidence": [
                {
                    "id": "0110441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8WUU5-1",
            "uniprot_ac": "Q8WUU5",
            "uniprot_id": "GATD1_HUMAN",
            "refseq_ac": "NP_066990",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA zinc finger domain-containing protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GATA zinc finger domain-containing protein 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Ocular development-associated gene protein",
                    "type": "synonym"
                },
                {
                    "name": "ocular development-associated gene protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATAD1",
                    "type": "recommended"
                },
                {
                    "name": "CMD2B",
                    "type": "synonym"
                },
                {
                    "name": "GATAD1",
                    "type": "synonym"
                },
                {
                    "name": "ODAG",
                    "type": "synonym"
                },
                {
                    "name": "RG083M05.2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8WUU5-1",
            "evidence": [
                {
                    "id": "614672",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614672"
                },
                {
                    "id": "0110441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LHJ5-1",
            "uniprot_ac": "A0ABK0LHJ5",
            "uniprot_id": "A0ABK0LHJ5_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GATA zinc finger domain-containing protein 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Gatad1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LHJ5-1",
            "evidence": [
                {
                    "id": "0110441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110441"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W5E2-1",
            "uniprot_ac": "Q9W5E2",
            "uniprot_id": "Q9W5E2_DROME",
            "refseq_ac": "NP_569851",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG13367-PA",
                    "type": "synonym"
                },
                {
                    "name": "Uncharacterized protein",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13367",
                    "type": "recommended"
                },
                {
                    "name": "CG13367",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13367",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13367",
                    "type": "synonym"
                },
                {
                    "name": "EG:115C2.8",
                    "type": "synonym"
                },
                {
                    "name": "anon-1BCb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W5E2-1",
            "evidence": [
                {
                    "id": "0110441",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110441"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110441"
}