{
    "disease_id": "DOID:0060232",
    "recommended_name": {
        "id": "DOID:0060232",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060232",
        "name": "branchiootic syndrome",
        "description": "A syndrome characterized by malformations of the outer, middle and inner ear and branchial and renal malformations. Mutations of the EYA1, SIX1 and SIX5 genes are associated with the syndrome."
    },
    "synonyms": [
        {
            "id": "DOID:0060232",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060232",
            "name": "BO syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060232",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060232",
            "name": "BOR",
            "description": ""
        },
        {
            "id": "DOID:0060232",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060232",
            "name": "branchiootic dysplasia",
            "description": ""
        },
        {
            "id": "MONDO:0011258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011258",
            "name": "branchiootic syndrome 1",
            "description": "Any branchiootic syndrome in which the cause of the disease is a mutation in the EYA1 gene."
        },
        {
            "id": "MONDO:0011258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011258",
            "name": "EYA1 branchiootic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0011258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011258",
            "name": "branchiootic syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0011258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011258",
            "name": "branchiootic syndrome caused by mutation in EYA1",
            "description": ""
        },
        {
            "id": "MONDO:0011258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011258",
            "name": "branchiootic syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011258",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011258",
            "name": "BOS1",
            "description": ""
        },
        {
            "id": "MIM:602588",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602588",
            "name": "Branchiootic syndrome 1",
            "description": "Branchiootic syndrome 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0061209",
            "label": "branchiootic syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0061210",
            "label": "branchiootic syndrome 3",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0061210",
        "DOID:0060232",
        "DOID:0061209"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060232",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060232",
            "categories": []
        },
        {
            "id": "MONDO:0011258",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011258",
            "categories": []
        },
        {
            "id": "MIM:602588",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602588",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q99502-1",
            "uniprot_ac": "Q99502",
            "uniprot_id": "EYA1_HUMAN",
            "refseq_ac": "NP_000494",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase EYA1",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.16",
                    "type": "synonym"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "Eyes absent homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EYA1",
                    "type": "recommended"
                },
                {
                    "name": "BOP",
                    "type": "synonym"
                },
                {
                    "name": "BOR",
                    "type": "synonym"
                },
                {
                    "name": "BOS1",
                    "type": "synonym"
                },
                {
                    "name": "EYA1",
                    "type": "synonym"
                },
                {
                    "name": "OFC1",
                    "type": "synonym"
                },
                {
                    "name": "OTFCS",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99502-1",
            "evidence": [
                {
                    "id": "602588",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602588"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060232"
}