{
    "disease_id": "DOID:0111424",
    "recommended_name": {
        "id": "DOID:0111424",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111424",
        "name": "branchiootorenal syndrome 2",
        "description": "A branchiootorenal syndrome that has_material_basis_in heterozygous mutation in the SIX5 gene on chromosome 19q13.32."
    },
    "synonyms": [
        {
            "id": "DOID:0111424",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111424",
            "name": "BOR2",
            "description": ""
        },
        {
            "id": "MONDO:0012575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012575",
            "name": "branchiootorenal syndrome 2",
            "description": "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene."
        },
        {
            "id": "MONDO:0012575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012575",
            "name": "SIX5 branchio-oto-renal syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012575",
            "name": "branchio-oto-renal syndrome caused by mutation in SIX5",
            "description": ""
        },
        {
            "id": "MONDO:0012575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012575",
            "name": "branchiootorenal syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0012575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012575",
            "name": "branchiootorenal syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0012575",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012575",
            "name": "BOR2",
            "description": ""
        },
        {
            "id": "MIM:610896",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/610896",
            "name": "Branchiootorenal syndrome 2",
            "description": "Branchiootorenal syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111424"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111424",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111424",
            "categories": []
        },
        {
            "id": "MONDO:0012575",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012575",
            "categories": []
        },
        {
            "id": "MIM:610896",
            "database": "MIM",
            "url": "https://www.omim.org/entry/610896",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N1Z226-1",
            "uniprot_ac": "A0A8N1Z226",
            "uniprot_id": "A0A8N1Z226_DANRE",
            "refseq_ac": "NP_571795",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX5",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX5",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 4.3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "six5",
                    "type": "recommended"
                },
                {
                    "name": "six4.3",
                    "type": "synonym"
                },
                {
                    "name": "six5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N1Z226-1",
            "evidence": [
                {
                    "id": "0111424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70178-1",
            "uniprot_ac": "P70178",
            "uniprot_id": "SIX5_MOUSE",
            "refseq_ac": "NP_035513",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX5",
                    "type": "recommended"
                },
                {
                    "name": "DM locus-associated homeodomain protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis homeobox homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX5",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 5",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis-related homeobox 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Six5",
                    "type": "recommended"
                },
                {
                    "name": "Dmahp",
                    "type": "synonym"
                },
                {
                    "name": "MDMAHP",
                    "type": "synonym"
                },
                {
                    "name": "Six5",
                    "type": "synonym"
                },
                {
                    "name": "TrexBF",
                    "type": "synonym"
                }
            ],
            "record_id": "P70178-1",
            "evidence": [
                {
                    "id": "0111424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8N196-1",
            "uniprot_ac": "Q8N196",
            "uniprot_id": "SIX5_HUMAN",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX5",
                    "type": "recommended"
                },
                {
                    "name": "DM locus-associated homeodomain protein",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis homeobox homolog 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIX5",
                    "type": "recommended"
                },
                {
                    "name": "DMAHP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8N196-1",
            "evidence": [
                {
                    "id": "610896",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/610896"
                },
                {
                    "id": "0111424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111424"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K7K3-1",
            "uniprot_ac": "A0A0G2K7K3",
            "uniprot_id": "A0A0G2K7K3_RAT",
            "refseq_ac": "NP_001359006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SIX homeobox 5",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX5",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis-related homeobox 5 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Six5",
                    "type": "recommended"
                },
                {
                    "name": "Six5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K7K3-1",
            "evidence": [
                {
                    "id": "0111424",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111424"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111424"
}