{
    "disease_id": "DOID:0110553",
    "recommended_name": {
        "id": "DOID:0110553",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110553",
        "name": "autosomal dominant nonsyndromic deafness 23",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the SIX1 gene on chromosome 14q23."
    },
    "synonyms": [
        {
            "id": "DOID:0110553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110553",
            "name": "DFNA23",
            "description": ""
        },
        {
            "id": "DOID:0110553",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110553",
            "name": "autosomal dominant deafness 23",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "autosomal dominant nonsyndromic hearing loss 23",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene."
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "DFNA 23",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "DFNA23",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "SIX1 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "autosomal dominant deafness 23",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "autosomal dominant nonsyndromic deafness 23",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in SIX1",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "autosomal dominant nonsyndromic deafness type 23",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "deafness, autosomal dominant 23",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "deafness, autosomal dominant nonsyndromic sensorineural 23",
            "description": ""
        },
        {
            "id": "MONDO:0011519",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "name": "deafness, autosomal dominant type 23",
            "description": ""
        },
        {
            "id": "MIM:605192",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/605192",
            "name": "Deafness, autosomal dominant, 23",
            "description": "Deafness, autosomal dominant, 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110553"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110553",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110553",
            "categories": []
        },
        {
            "id": "MONDO:0011519",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011519",
            "categories": []
        },
        {
            "id": "MIM:605192",
            "database": "MIM",
            "url": "https://www.omim.org/entry/605192",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6DHF9-1",
            "uniprot_ac": "Q6DHF9",
            "uniprot_id": "SIX1A_DANRE",
            "refseq_ac": "NP_001009904",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein six1a",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein six1b",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis homeobox homolog 1a",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis homeobox homolog 1b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein six1a",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein six1b",
                    "type": "synonym"
                },
                {
                    "name": "homeodomain transcription factor Six1b",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 1a",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 1b",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "six1a",
                    "type": "recommended"
                },
                {
                    "name": "six1a",
                    "type": "synonym"
                },
                {
                    "name": "six1b",
                    "type": "synonym"
                },
                {
                    "name": "six2",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92332",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6DHF9-1",
            "evidence": [
                {
                    "id": "0110553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6NZ04-1",
            "uniprot_ac": "Q6NZ04",
            "uniprot_id": "SIX1B_DANRE",
            "refseq_ac": "NP_996978",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein six1b",
                    "type": "recommended"
                },
                {
                    "name": "Homeobox protein six1a",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis homeobox homolog 1a",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis homeobox homolog 1b",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein six1a",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein six1b",
                    "type": "synonym"
                },
                {
                    "name": "homeodomain transcription factor six1",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 1a",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 1b",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "six1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "six1b",
                    "type": "recommended"
                },
                {
                    "name": "six1a",
                    "type": "synonym"
                },
                {
                    "name": "six1b",
                    "type": "synonym"
                },
                {
                    "name": "six1",
                    "type": "synonym"
                },
                {
                    "name": "zgc:77345",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6NZ04-1",
            "evidence": [
                {
                    "id": "0110553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q62231-1",
            "uniprot_ac": "Q62231",
            "uniprot_id": "SIX1_MOUSE",
            "refseq_ac": "NP_033215",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX1",
                    "type": "recommended"
                },
                {
                    "name": "Sine oculis homeobox homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX1",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis-related homeobox 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Six1",
                    "type": "recommended"
                },
                {
                    "name": "Six1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q62231-1",
            "evidence": [
                {
                    "id": "0110553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15475-1",
            "uniprot_ac": "Q15475",
            "uniprot_id": "SIX1_HUMAN",
            "refseq_ac": "NP_005973",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Homeobox protein SIX1",
                    "type": "recommended"
                },
                {
                    "name": "Sine oculis homeobox homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX1",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIX1",
                    "type": "recommended"
                },
                {
                    "name": "BOS3",
                    "type": "synonym"
                },
                {
                    "name": "DFNA23",
                    "type": "synonym"
                },
                {
                    "name": "SIX1",
                    "type": "synonym"
                },
                {
                    "name": "TIP39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15475-1",
            "evidence": [
                {
                    "id": "605192",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/605192"
                },
                {
                    "id": "0110553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V970-1",
            "uniprot_ac": "G3V970",
            "uniprot_id": "G3V970_RAT",
            "refseq_ac": "NP_446211",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SIX homeobox 1",
                    "type": "synonym"
                },
                {
                    "name": "homeobox protein SIX1",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis homeobox homolog 1",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis-related homeobox 1 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Six1",
                    "type": "recommended"
                },
                {
                    "name": "Six1",
                    "type": "synonym"
                }
            ],
            "record_id": "G3V970-1",
            "evidence": [
                {
                    "id": "0110553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110553"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q27350-1",
            "uniprot_ac": "Q27350",
            "uniprot_id": "SO_DROME",
            "refseq_ac": "NP_476733",
            "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 sine oculis",
                    "type": "recommended"
                },
                {
                    "name": "CG11121-PA",
                    "type": "synonym"
                },
                {
                    "name": "absent minded",
                    "type": "synonym"
                },
                {
                    "name": "droplet",
                    "type": "synonym"
                },
                {
                    "name": "medusa",
                    "type": "synonym"
                },
                {
                    "name": "optic lobe defective",
                    "type": "synonym"
                },
                {
                    "name": "sine oculis",
                    "type": "synonym"
                },
                {
                    "name": "sine oculus",
                    "type": "synonym"
                },
                {
                    "name": "sinus oculis",
                    "type": "synonym"
                },
                {
                    "name": "so-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "so",
                    "type": "recommended"
                },
                {
                    "name": "CG11121",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11121",
                    "type": "synonym"
                },
                {
                    "name": "Drl",
                    "type": "synonym"
                },
                {
                    "name": "SO",
                    "type": "synonym"
                },
                {
                    "name": "Sine oculis",
                    "type": "synonym"
                },
                {
                    "name": "So",
                    "type": "synonym"
                },
                {
                    "name": "ami",
                    "type": "synonym"
                },
                {
                    "name": "mda",
                    "type": "synonym"
                },
                {
                    "name": "med",
                    "type": "synonym"
                },
                {
                    "name": "old",
                    "type": "synonym"
                },
                {
                    "name": "soD",
                    "type": "synonym"
                },
                {
                    "name": "somda",
                    "type": "synonym"
                },
                {
                    "name": "so",
                    "type": "synonym"
                }
            ],
            "record_id": "Q27350-1",
            "evidence": [
                {
                    "id": "0110553",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110553"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110553"
}