{
    "disease_id": "DOID:0050691",
    "recommended_name": {
        "id": "DOID:0050691",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050691",
        "name": "branchiooculofacial syndrome",
        "description": "A syndrome that is characterized by low birth weight and growth retardation, bilateral branchial clefts."
    },
    "synonyms": [
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "branchiooculofacial syndrome",
            "description": "Branchio-oculo-facial syndrome (BOFS) is characterized by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth."
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "BOFS",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "BOFS syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "Bof syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "Branchio Oculo Facial Syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature ageing",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Ageing",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "branchio-oculo-facial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "branchiooculofacial syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "hemangiomatous branchial clefts-Lip Pseudocleft syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007235",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "name": "lip Pseudocleft-Hemangiomatous branchial cyst syndrome",
            "description": ""
        },
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            "resource": "MIM",
            "url": "https://www.omim.org/entry/113620",
            "name": "Branchiooculofacial syndrome",
            "description": "Branchiooculofacial syndrome"
        }
    ],
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    "id_list": [
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    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050691",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050691",
            "categories": []
        },
        {
            "id": "MONDO:0007235",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007235",
            "categories": []
        },
        {
            "id": "MIM:113620",
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            "url": "https://www.omim.org/entry/113620",
            "categories": []
        }
    ],
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            "uniprot_ac": "A0A8M2B9E2",
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                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Transcription factor AP-2-alpha",
                    "type": "recommended"
                },
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                },
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                    "name": "cb93",
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                    "name": "Ap-2 (a)",
                    "type": "synonym"
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            "uniprot_ac": "P05549",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
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                }
            ],
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                    "name": "Transcription factor AP-2-alpha",
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                    "type": "synonym"
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                {
                    "name": "Activating enhancer-binding protein 2-alpha",
                    "type": "synonym"
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                    "name": "Activator protein 2",
                    "type": "synonym"
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                    "name": "transcription factor AP-2-alpha isoform b",
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                    "name": "TFAP2A",
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                {
                    "name": "AP2TF",
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                },
                {
                    "name": "BOFS",
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                    "name": "TFAP2A",
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                    "id": "0050691",
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            "uniprot_ac": "P58197",
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            "refseq_ac": "",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
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                    "name": "Transcription factor AP-2-alpha",
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            "uniprot_ac": "M9PIH9",
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                    "name": "Drosophila melanogaster",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050691"
}