{
    "disease_id": "DOID:0080633",
    "recommended_name": {
        "id": "DOID:0080633",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080633",
        "name": "developmental cardiac valvular defect",
        "description": "A physical disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PLD1 gene on chromosome 3q26."
    },
    "synonyms": [
        {
            "id": "MONDO:0008913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008913",
            "name": "cardiac valvular defect, developmental",
            "description": ""
        },
        {
            "id": "MONDO:0008913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008913",
            "name": "cardiac valvular defect, developmental",
            "description": ""
        },
        {
            "id": "MONDO:0008913",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008913",
            "name": "CVDD",
            "description": ""
        },
        {
            "id": "MIM:212093",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/212093",
            "name": "Cardiac valvular dysplasia 1",
            "description": "Cardiac valvular dysplasia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080633"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080633",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080633",
            "categories": []
        },
        {
            "id": "MONDO:0008913",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008913",
            "categories": []
        },
        {
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            "database": "MIM",
            "url": "https://www.omim.org/entry/212093",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "Q5RIH2",
            "uniprot_id": "Q5RIH2_DANRE",
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                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
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                }
            ],
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            ],
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                    "name": "Phosphatidylcholine-hydrolyzing phospholipase D1",
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            ],
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                {
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                    "id": "0080633",
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                {
                    "name": "3.1.4.4",
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                {
                    "name": "Choline phosphatase 2",
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                    "name": "PLD 2",
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                },
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                    "name": "PLD1C",
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                },
                {
                    "name": "Phosphatidylcholine-hydrolyzing phospholipase D2",
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                },
                {
                    "name": "choline phosphatase 2",
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                {
                    "name": "phosphatidylcholine-hydrolyzing phospholipase D2",
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                },
                {
                    "name": "phospholipase D gene 2",
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                {
                    "name": "phospholipase D2",
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                {
                    "name": "rPLD2",
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                }
            ],
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                    "name": "Pld2",
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                    "name": "Pld2",
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                {
                    "name": "Pldc",
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            ],
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                    "id": "0080633",
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                    "name": "Drosophila melanogaster",
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            ],
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                    "name": "Phospholipase",
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                    "name": "Phosphatidylcholine-specific phospholipase-D",
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                    "name": "Pld-PF",
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                {
                    "name": "phospholipase D, isoform F",
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                    "name": "phospholipase D",
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                    "name": "bs14h02.y1",
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                    "name": "MTHFC",
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    ],
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    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080633"
}