{
    "disease_id": "DOID:0080332",
    "recommended_name": {
        "id": "DOID:0080332",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080332",
        "name": "bicuspid aortic valve disease",
        "description": "An aortic valve disease that is characterized by the presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives."
    },
    "synonyms": [
        {
            "id": "DOID:0080332",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080332",
            "name": "Familial bicuspid aortic valve",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "aortic valve disease 1",
            "description": "Any aortic valve disease in which the cause of the disease is a mutation in the NOTCH1 gene."
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "AOVD1",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "NOTCH1 aortic valve disease",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "Notch1 aortic valve disease",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "aortic valve disease 1",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "aortic valve disease caused by mutation in NOTCH1",
            "description": ""
        },
        {
            "id": "MONDO:0024523",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "name": "aortic valve disease caused by mutation in Notch1",
            "description": ""
        },
        {
            "id": "MIM:109730",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/109730",
            "name": "Aortic valve disease 1",
            "description": "Aortic valve disease 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080333",
            "label": "aortic valve disease 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080334",
            "label": "aortic valve disease 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080977",
            "label": "aortic valve disease 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080334",
        "DOID:0080333",
        "DOID:0080332",
        "DOID:0080977"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080332",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080332",
            "categories": []
        },
        {
            "id": "MONDO:0024523",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0024523",
            "categories": []
        },
        {
            "id": "MIM:109730",
            "database": "MIM",
            "url": "https://www.omim.org/entry/109730",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "P97489",
            "uniprot_id": "GATA5_MOUSE",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Transcription factor GATA-5",
                    "type": "recommended"
                },
                {
                    "name": "GATA-binding factor 5",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor GATA-5 (GATA binding factor-5)",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-5",
                    "type": "synonym"
                }
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                    "name": "Gata5",
                    "type": "recommended"
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                }
            ],
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                    "id": "0080332",
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                }
            ]
        },
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Exocyst complex component 5",
                    "type": "recommended"
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                {
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                    "type": "synonym"
                },
                {
                    "name": "SEC10-like 1",
                    "type": "synonym"
                },
                {
                    "name": "exocyst complex component 5",
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                },
                {
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                    "type": "synonym"
                }
            ],
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                {
                    "name": "Exoc5",
                    "type": "recommended"
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                {
                    "name": "Exoc5",
                    "type": "synonym"
                },
                {
                    "name": "Gm76",
                    "type": "synonym"
                },
                {
                    "name": "PRO1912",
                    "type": "synonym"
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                    "name": "SEC10",
                    "type": "synonym"
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                {
                    "name": "Sec10l1",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0080332",
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                }
            ]
        },
        {
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            "uniprot_ac": "P46531",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Neurogenic locus notch homolog protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Notch 1",
                    "type": "synonym"
                },
                {
                    "name": "Notch homolog 1, translocation-associated",
                    "type": "synonym"
                },
                {
                    "name": "Translocation-associated notch protein TAN-1",
                    "type": "synonym"
                },
                {
                    "name": "hN1",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "neurogenic locus notch homolog protein 1",
                    "type": "synonym"
                },
                {
                    "name": "notch 1",
                    "type": "synonym"
                },
                {
                    "name": "translocation-associated notch protein TAN-1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "NOTCH1",
                    "type": "recommended"
                },
                {
                    "name": "AOS5",
                    "type": "synonym"
                },
                {
                    "name": "AOVD1",
                    "type": "synonym"
                },
                {
                    "name": "NOTCH1",
                    "type": "synonym"
                },
                {
                    "name": "TAN1",
                    "type": "synonym"
                },
                {
                    "name": "hN1",
                    "type": "synonym"
                }
            ],
            "record_id": "P46531-1",
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                {
                    "id": "109730",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/109730"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43574-1",
            "uniprot_ac": "P43574",
            "uniprot_id": "GAT1_YEAST",
            "refseq_ac": "NP_116632",
            "glycoprotein": "yes",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcriptional regulatory protein GAT1",
                    "type": "recommended"
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                {
                    "name": "Gat1p",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "GAT1",
                    "type": "recommended"
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                {
                    "name": "GAT1",
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                },
                {
                    "name": "MEP80",
                    "type": "synonym"
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                    "name": "NIL1",
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            ],
            "record_id": "P43574-1",
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                    "id": "0080332",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0080332"
                }
            ]
        },
        {
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            "uniprot_ac": "P42944",
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                    "taxid": 559292,
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                }
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                    "name": "Protein GZF3",
                    "type": "recommended"
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                {
                    "name": "Gzf3p",
                    "type": "synonym"
                }
            ],
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                    "name": "GZF3",
                    "type": "recommended"
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                    "name": "DEH1",
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                    "name": "GZF3",
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                {
                    "name": "J0806",
                    "type": "synonym"
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                    "name": "NIL2",
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                    "id": "0080332",
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            ],
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                    "name": "Exocyst complex component SEC10",
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                    "name": "exocyst subunit SEC10",
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                    "name": "SEC10",
                    "type": "recommended"
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                {
                    "name": "L9362.12",
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                    "name": "SEC10",
                    "type": "synonym"
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                    "id": "0080332",
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                    "name": "Rattus norvegicus",
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                    "id": "0080332",
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                    "id": "0080332",
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                    "name": "Transcription factor GATA-A",
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                    "name": "dGATA-A",
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                {
                    "name": "GATA",
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                {
                    "name": "l(3)89B3",
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                    "name": "pnr",
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                    "id": "0080332",
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                {
                    "name": "Sec10 ortholog",
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                    "name": "secretory 10",
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                    "name": "Dmel\\CG6159",
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                    "id": "0080332",
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                {
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                    "name": "hSec10",
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                    "name": "PRO1912",
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                    "name": "SEC10L1",
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                    "name": "SEC10P",
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                {
                    "name": "SEC10",
                    "type": "synonym"
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                    "id": "0080332",
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                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor GATA-5",
                    "type": "recommended"
                },
                {
                    "name": "GATA binding factor-5",
                    "type": "synonym"
                },
                {
                    "name": "GATA-binding factor 5",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor GATA-5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GATA5",
                    "type": "recommended"
                },
                {
                    "name": "CHTD5",
                    "type": "synonym"
                },
                {
                    "name": "GATA5",
                    "type": "synonym"
                },
                {
                    "name": "GATAS",
                    "type": "synonym"
                },
                {
                    "name": "bB379O24.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BWX5-1",
            "evidence": [
                {
                    "id": "0080332",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080332"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080332"
}