{
    "disease_id": "DOID:0060772",
    "recommended_name": {
        "id": "DOID:0060772",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060772",
        "name": "multiple types of congenital heart defects 6",
        "description": "A congenital heart disease that is characterized by a congenital cardiac malformation characterized by atrioventricular concordance and ventriculoarterial discordance and that has_material_basis_in heterozygous mutation in the GDF1 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0060772",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060772",
            "name": "DTGA3",
            "description": ""
        },
        {
            "id": "DOID:0060772",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060772",
            "name": "dextro-looped transposition of the great arteries 3",
            "description": ""
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "congenital heart defects, multiple types, 6",
            "description": "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the GDF1 gene."
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "DTGA3",
            "description": ""
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "GDF1 dextro-looped transposition of the great arteries",
            "description": ""
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "congenital heart defects, multiple types, 6",
            "description": ""
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "dextro-looped transposition of the great arteries caused by mutation in GDF1",
            "description": ""
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "dextro-looped transposition of the great arteries type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "transposition of the great arteries, dextro-looped type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "CHTD6",
            "description": ""
        },
        {
            "id": "MONDO:0013463",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "name": "transposition of the great arteries, dextro-looped 3",
            "description": ""
        },
        {
            "id": "MIM:613854",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/613854",
            "name": "Congenital heart defects, multiple types, 6",
            "description": "Congenital heart defects, multiple types, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060772"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060772",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060772",
            "categories": []
        },
        {
            "id": "MONDO:0013463",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013463",
            "categories": []
        },
        {
            "id": "MIM:613854",
            "database": "MIM",
            "url": "https://www.omim.org/entry/613854",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P35621-1",
            "uniprot_ac": "P35621",
            "uniprot_id": "DVR1_DANRE",
            "refseq_ac": "NP_571023",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein DVR-1",
                    "type": "recommended"
                },
                {
                    "name": "decapentaplegic and Vg-related 1",
                    "type": "synonym"
                },
                {
                    "name": "protein DVR-1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein DVR-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dvr1",
                    "type": "recommended"
                },
                {
                    "name": "gdf3",
                    "type": "recommended"
                },
                {
                    "name": "DVR-1",
                    "type": "synonym"
                },
                {
                    "name": "VG1",
                    "type": "synonym"
                },
                {
                    "name": "cb556",
                    "type": "synonym"
                },
                {
                    "name": "dvr-1",
                    "type": "synonym"
                },
                {
                    "name": "dvr1",
                    "type": "synonym"
                },
                {
                    "name": "gdf3",
                    "type": "synonym"
                },
                {
                    "name": "vg1",
                    "type": "synonym"
                },
                {
                    "name": "zDVR-1",
                    "type": "synonym"
                },
                {
                    "name": "zDVR1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103542",
                    "type": "synonym"
                }
            ],
            "record_id": "P35621-1",
            "evidence": [
                {
                    "id": "0060772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20863-1",
            "uniprot_ac": "P20863",
            "uniprot_id": "GDF1_MOUSE",
            "refseq_ac": "NP_001156754",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Embryonic growth/differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "GDF-1",
                    "type": "synonym"
                },
                {
                    "name": "embryonic growth/differentiation factor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "embryonic growth/differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gdf1",
                    "type": "recommended"
                },
                {
                    "name": "Gdf-1",
                    "type": "synonym"
                },
                {
                    "name": "Gdf1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20863-1",
            "evidence": [
                {
                    "id": "0060772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060772"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27539-1",
            "uniprot_ac": "P27539",
            "uniprot_id": "GDF1_HUMAN",
            "refseq_ac": "NP_001483",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Embryonic growth/differentiation factor 1",
                    "type": "recommended"
                },
                {
                    "name": "GDF-1",
                    "type": "synonym"
                },
                {
                    "name": "embryonic growth/differentiation factor 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "embryonic growth/differentiation factor 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GDF1",
                    "type": "recommended"
                },
                {
                    "name": "CHTD6",
                    "type": "synonym"
                },
                {
                    "name": "DORV",
                    "type": "synonym"
                },
                {
                    "name": "DTGA3",
                    "type": "synonym"
                },
                {
                    "name": "GDF1",
                    "type": "synonym"
                },
                {
                    "name": "RAI",
                    "type": "synonym"
                }
            ],
            "record_id": "P27539-1",
            "evidence": [
                {
                    "id": "613854",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/613854"
                },
                {
                    "id": "0060772",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060772"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060772"
}