{
    "disease_id": "DOID:0060782",
    "recommended_name": {
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        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060782",
        "name": "EEC syndrome",
        "description": "A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate)."
    },
    "synonyms": [
        {
            "id": "DOID:0060782",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060782",
            "name": "Rudiger syndrome 1",
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            "url": "https://disease-ontology.org/term/DOID:0060782",
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        },
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        },
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            "url": "https://disease-ontology.org/term/DOID:0060782",
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        },
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            "resource": "MONDO",
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        },
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            "description": ""
        },
        {
            "id": "MONDO:0010004",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010004",
            "name": "ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0010004",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010004",
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            "description": ""
        },
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            "id": "MONDO:0010004",
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        },
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        },
        {
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        }
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            "link_status": true,
            "children": []
        }
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    ],
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            "id": "DOID:0060782",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060782",
            "categories": []
        },
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            "protein_names": [
                {
                    "name": "Tumor protein 63",
                    "type": "recommended"
                },
                {
                    "name": "CUSP",
                    "type": "synonym"
                },
                {
                    "name": "Chronic ulcerative stomatitis protein",
                    "type": "synonym"
                },
                {
                    "name": "Keratinocyte transcription factor KET",
                    "type": "synonym"
                },
                {
                    "name": "TP63",
                    "type": "synonym"
                },
                {
                    "name": "Transformation-related protein 63",
                    "type": "synonym"
                },
                {
                    "name": "Tumor protein p73-like",
                    "type": "synonym"
                },
                {
                    "name": "amplified in squamous cell carcinoma",
                    "type": "synonym"
                },
                {
                    "name": "chronic ulcerative stomatitis protein",
                    "type": "synonym"
                },
                {
                    "name": "keratinocyte transcription factor KET",
                    "type": "synonym"
                },
                {
                    "name": "p40",
                    "type": "synonym"
                },
                {
                    "name": "p51",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "p73L",
                    "type": "synonym"
                },
                {
                    "name": "transformation-related protein 63",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein 63 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein 63",
                    "type": "synonym"
                },
                {
                    "name": "tumor protein p53-competing protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TP63",
                    "type": "recommended"
                },
                {
                    "name": "AIS",
                    "type": "synonym"
                },
                {
                    "name": "B(p51A)",
                    "type": "synonym"
                },
                {
                    "name": "B(p51B)",
                    "type": "synonym"
                },
                {
                    "name": "EEC3",
                    "type": "synonym"
                },
                {
                    "name": "KET",
                    "type": "synonym"
                },
                {
                    "name": "LMS",
                    "type": "synonym"
                },
                {
                    "name": "NBP",
                    "type": "synonym"
                },
                {
                    "name": "OFC8",
                    "type": "synonym"
                },
                {
                    "name": "P63",
                    "type": "synonym"
                },
                {
                    "name": "P73H",
                    "type": "synonym"
                },
                {
                    "name": "P73L",
                    "type": "synonym"
                },
                {
                    "name": "RHS",
                    "type": "synonym"
                },
                {
                    "name": "SHFM4",
                    "type": "synonym"
                },
                {
                    "name": "TP53CP",
                    "type": "synonym"
                },
                {
                    "name": "TP53L",
                    "type": "synonym"
                },
                {
                    "name": "TP63",
                    "type": "synonym"
                },
                {
                    "name": "TP73L",
                    "type": "synonym"
                },
                {
                    "name": "p40",
                    "type": "synonym"
                },
                {
                    "name": "p51",
                    "type": "synonym"
                },
                {
                    "name": "p53CP",
                    "type": "synonym"
                },
                {
                    "name": "p63",
                    "type": "synonym"
                },
                {
                    "name": "p73H",
                    "type": "synonym"
                },
                {
                    "name": "p73L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H3D4-1",
            "evidence": [
                {
                    "id": "0060782",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060782"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060782"
}