{
    "disease_id": "DOID:0060563",
    "recommended_name": {
        "id": "DOID:0060563",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060563",
        "name": "Char syndrome",
        "description": "A patent ductus arteriosus with facial dysmorphism and abnormal fifth digits."
    },
    "synonyms": [
        {
            "id": "MONDO:0008209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008209",
            "name": "Char syndrome",
            "description": "Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies."
        },
        {
            "id": "MONDO:0008209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008209",
            "name": "Char syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008209",
            "name": "patent ductus arteriosus with facial dysmorphism and abnormal fifth digits",
            "description": ""
        },
        {
            "id": "MONDO:0008209",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008209",
            "name": "CHAR",
            "description": ""
        },
        {
            "id": "MIM:169100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/169100",
            "name": "Char syndrome",
            "description": "Char syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060563"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060563",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060563",
            "categories": []
        },
        {
            "id": "MONDO:0008209",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008209",
            "categories": []
        },
        {
            "id": "MIM:169100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/169100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58I2V4-1",
            "uniprot_ac": "A0AC58I2V4",
            "uniprot_id": "A0AC58I2V4_DANRE",
            "refseq_ac": "XP_073788562",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor AP-2-beta isoform X1",
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                },
                {
                    "name": "transcription factor AP-2-beta isoform X1",
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                }
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                    "name": "tfap2b",
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                },
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                    "name": "si:dkey-5e16.1",
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                },
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                    "type": "synonym"
                },
                {
                    "name": "zgc:110163",
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                }
            ],
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                    "id": "0060563",
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                }
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        },
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            "uniprot_canonical_ac": "Q61313-1",
            "uniprot_ac": "Q61313",
            "uniprot_id": "AP2B_MOUSE",
            "refseq_ac": "NP_033360",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Transcription factor AP-2-beta",
                    "type": "recommended"
                },
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                    "name": "AP2-beta",
                    "type": "synonym"
                },
                {
                    "name": "Activating enhancer-binding protein 2-beta",
                    "type": "synonym"
                },
                {
                    "name": "activating enhancer-binding protein 2 beta",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor AP-2-beta isoform 1",
                    "type": "synonym"
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            ],
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                {
                    "name": "Tfap2b",
                    "type": "recommended"
                },
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                    "name": "AP-2(beta)",
                    "type": "synonym"
                },
                {
                    "name": "AP2-beta",
                    "type": "synonym"
                },
                {
                    "name": "E130018K07Rik",
                    "type": "synonym"
                },
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                    "name": "Tcfap2b",
                    "type": "synonym"
                },
                {
                    "name": "Tfap2b",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0060563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92481-1",
            "uniprot_ac": "Q92481",
            "uniprot_id": "AP2B_HUMAN",
            "refseq_ac": "NP_003212",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transcription factor AP-2-beta",
                    "type": "recommended"
                },
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                    "name": "AP2-beta",
                    "type": "synonym"
                },
                {
                    "name": "Activating enhancer-binding protein 2-beta",
                    "type": "synonym"
                },
                {
                    "name": "activating enhancer binding protein 2 beta",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor AP-2-beta",
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                }
            ],
            "gene_names": [
                {
                    "name": "TFAP2B",
                    "type": "recommended"
                },
                {
                    "name": "AP-2B",
                    "type": "synonym"
                },
                {
                    "name": "AP-2beta",
                    "type": "synonym"
                },
                {
                    "name": "AP2-B",
                    "type": "synonym"
                },
                {
                    "name": "PDA2",
                    "type": "synonym"
                },
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                    "name": "TFAP2B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92481-1",
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                {
                    "id": "169100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/169100"
                },
                {
                    "id": "0060563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LXS6-1",
            "uniprot_ac": "A0ABK0LXS6",
            "uniprot_id": "A0ABK0LXS6_RAT",
            "refseq_ac": "NP_001400699",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Transcription factor AP-2 beta",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor AP-2-beta isoform 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tfap2b",
                    "type": "recommended"
                },
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                    "type": "synonym"
                },
                {
                    "name": "Tfap2b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LXS6-1",
            "evidence": [
                {
                    "id": "0060563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PIH9-1",
            "uniprot_ac": "M9PIH9",
            "uniprot_id": "M9PIH9_DROME",
            "refseq_ac": "NP_001262178",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "AP-2",
                    "type": "synonym"
                },
                {
                    "name": "CG7807-PD",
                    "type": "synonym"
                },
                {
                    "name": "TfAP-2-PD",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor AP-2, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 1215",
                    "type": "synonym"
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                {
                    "name": "stummelbein",
                    "type": "synonym"
                },
                {
                    "name": "transcription factor AP-2, isoform D",
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                }
            ],
            "gene_names": [
                {
                    "name": "TfAP-2",
                    "type": "recommended"
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                {
                    "name": "AP-2alpha",
                    "type": "synonym"
                },
                {
                    "name": "AP-2",
                    "type": "synonym"
                },
                {
                    "name": "CG7807",
                    "type": "synonym"
                },
                {
                    "name": "DAP-2",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7807",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7807",
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                },
                {
                    "name": "TfAP-2",
                    "type": "synonym"
                },
                {
                    "name": "TfaP-2",
                    "type": "synonym"
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                {
                    "name": "Tfap-2",
                    "type": "synonym"
                },
                {
                    "name": "Tfap2",
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                },
                {
                    "name": "dAP-2alpha",
                    "type": "synonym"
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                {
                    "name": "dAP-2",
                    "type": "synonym"
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                {
                    "name": "dTfap2",
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                {
                    "name": "l(3)1215",
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                {
                    "id": "0060563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060563"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060563"
}