{
    "disease_id": "DOID:0061209",
    "recommended_name": {
        "id": "DOID:0061209",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0061209",
        "name": "branchiootic syndrome 1",
        "description": "A branchiootic syndrome that has_material_basis_in heterozygous mutation in the EYA1 gene on chromosome 8q13."
    },
    "synonyms": [
        {
            "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_list": [
        "DOID:0061209"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0061209",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0061209",
            "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": "A0A8M2B9H5-1",
            "uniprot_ac": "A0A8M2B9H5",
            "uniprot_id": "A0A8M2B9H5_DANRE",
            "refseq_ac": "XP_005162692",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eyes absent homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA1 isoform X12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eya1",
                    "type": "recommended"
                },
                {
                    "name": "eya1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc13c10",
                    "type": "synonym"
                },
                {
                    "name": "zgc:100770",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M2B9H5-1",
            "evidence": [
                {
                    "id": "0061209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P97767-1",
            "uniprot_ac": "P97767",
            "uniprot_id": "EYA1_MOUSE",
            "refseq_ac": "NP_001297388",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "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 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA1 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "protein phosphatase EYA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eya1",
                    "type": "recommended"
                },
                {
                    "name": "Eya1",
                    "type": "synonym"
                },
                {
                    "name": "bor",
                    "type": "synonym"
                }
            ],
            "record_id": "P97767-1",
            "evidence": [
                {
                    "id": "0061209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061209"
                }
            ]
        },
        {
            "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"
                },
                {
                    "id": "0061209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZVI5-1",
            "uniprot_ac": "D3ZVI5",
            "uniprot_id": "D3ZVI5_RAT",
            "refseq_ac": "NP_001413950",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Eyes absent homolog",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Eya1",
                    "type": "recommended"
                },
                {
                    "name": "Eya1",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZVI5-1",
            "evidence": [
                {
                    "id": "0061209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061209"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q05201-1",
            "uniprot_ac": "Q05201",
            "uniprot_id": "EYA_DROME",
            "refseq_ac": "NP_523492",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein phosphatase eya",
                    "type": "recommended"
                },
                {
                    "name": "3.1.3.48",
                    "type": "synonym"
                },
                {
                    "name": "CG9554-PB",
                    "type": "synonym"
                },
                {
                    "name": "Developmental protein eyes absent",
                    "type": "synonym"
                },
                {
                    "name": "Eye absent",
                    "type": "synonym"
                },
                {
                    "name": "Eyes-absent",
                    "type": "synonym"
                },
                {
                    "name": "Protein Clift",
                    "type": "synonym"
                },
                {
                    "name": "clift",
                    "type": "synonym"
                },
                {
                    "name": "delayed gonad formation 1",
                    "type": "synonym"
                },
                {
                    "name": "eya-PB",
                    "type": "synonym"
                },
                {
                    "name": "eyeless 2",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "eyes absent",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "eya",
                    "type": "recommended"
                },
                {
                    "name": "24582246",
                    "type": "synonym"
                },
                {
                    "name": "BcDNA:LD16029",
                    "type": "synonym"
                },
                {
                    "name": "CG9554",
                    "type": "synonym"
                },
                {
                    "name": "CLIFT",
                    "type": "synonym"
                },
                {
                    "name": "CLI",
                    "type": "synonym"
                },
                {
                    "name": "Clift",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9554",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9554",
                    "type": "synonym"
                },
                {
                    "name": "EY2-1",
                    "type": "synonym"
                },
                {
                    "name": "EYA",
                    "type": "synonym"
                },
                {
                    "name": "Eya",
                    "type": "synonym"
                },
                {
                    "name": "Eyes absent",
                    "type": "synonym"
                },
                {
                    "name": "cli/eya",
                    "type": "synonym"
                },
                {
                    "name": "cli[eya]",
                    "type": "synonym"
                },
                {
                    "name": "cli",
                    "type": "synonym"
                },
                {
                    "name": "dEYA",
                    "type": "synonym"
                },
                {
                    "name": "del1",
                    "type": "synonym"
                },
                {
                    "name": "eay",
                    "type": "synonym"
                },
                {
                    "name": "ey-2",
                    "type": "synonym"
                },
                {
                    "name": "eya",
                    "type": "synonym"
                }
            ],
            "record_id": "Q05201-1",
            "evidence": [
                {
                    "id": "0061209",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0061209"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0061209"
}