{
    "disease_id": "DOID:0110546",
    "recommended_name": {
        "id": "DOID:0110546",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110546",
        "name": "autosomal dominant nonsyndromic deafness 15",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the POU4F3 gene on chromosome 5q32."
    },
    "synonyms": [
        {
            "id": "DOID:0110546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110546",
            "name": "DFNA15",
            "description": ""
        },
        {
            "id": "DOID:0110546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110546",
            "name": "DFNA52",
            "description": ""
        },
        {
            "id": "DOID:0110546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110546",
            "name": "autosomal dominant deafness 15",
            "description": ""
        },
        {
            "id": "DOID:0110546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110546",
            "name": "autosomal dominant deafness 52",
            "description": ""
        },
        {
            "id": "DOID:0110546",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110546",
            "name": "autosomal dominant nonsyndromic deafness 52",
            "description": ""
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "autosomal dominant nonsyndromic hearing loss 15",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene."
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "DFNA15",
            "description": ""
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "POU4F3 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "autosomal dominant deafness 15",
            "description": ""
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "autosomal dominant nonsyndromic deafness 15",
            "description": ""
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in POU4F3",
            "description": ""
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "autosomal dominant nonsyndromic deafness type 15",
            "description": ""
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "deafness, autosomal dominant 15",
            "description": ""
        },
        {
            "id": "MONDO:0011226",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "name": "deafness, autosomal dominant type 15",
            "description": ""
        },
        {
            "id": "MIM:602459",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602459",
            "name": "Deafness, autosomal dominant, 15",
            "description": "Deafness, autosomal dominant, 15"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110546"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110546",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110546",
            "categories": []
        },
        {
            "id": "MONDO:0011226",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011226",
            "categories": []
        },
        {
            "id": "MIM:602459",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602459",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q90435-1",
            "uniprot_ac": "Q90435",
            "uniprot_id": "PO4F3_DANRE",
            "refseq_ac": "NP_571353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "POU domain, class 4, transcription factor 3",
                    "type": "recommended"
                },
                {
                    "name": "Brain-3.1",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific homeobox/POU domain protein 3.1",
                    "type": "synonym"
                },
                {
                    "name": "POU domain, class 4, transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "brain POU domain gene 3.1",
                    "type": "synonym"
                },
                {
                    "name": "brain-3.1",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific homeobox/POU domain protein 3.1",
                    "type": "synonym"
                },
                {
                    "name": "zfBrn-3.1",
                    "type": "synonym"
                },
                {
                    "name": "zfbrn-3.1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pou4f3",
                    "type": "recommended"
                },
                {
                    "name": "BRN-3.1",
                    "type": "synonym"
                },
                {
                    "name": "brn-3.1",
                    "type": "synonym"
                },
                {
                    "name": "brn-3c",
                    "type": "synonym"
                },
                {
                    "name": "brn3.1",
                    "type": "synonym"
                },
                {
                    "name": "brn3c",
                    "type": "synonym"
                },
                {
                    "name": "pou4f3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q90435-1",
            "evidence": [
                {
                    "id": "0110546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63955-1",
            "uniprot_ac": "Q63955",
            "uniprot_id": "PO4F3_MOUSE",
            "refseq_ac": "NP_620395",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "POU domain, class 4, transcription factor 3",
                    "type": "recommended"
                },
                {
                    "name": "Brain-3C",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific homeobox/POU domain protein 3C",
                    "type": "synonym"
                },
                {
                    "name": "Brn-3.1",
                    "type": "synonym"
                },
                {
                    "name": "Brn-3C",
                    "type": "synonym"
                },
                {
                    "name": "POU domain, class 4, transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "brain-3C",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific homeobox POU domain protein 3C",
                    "type": "synonym"
                },
                {
                    "name": "brn-3C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pou4f3",
                    "type": "recommended"
                },
                {
                    "name": "Brn-3.1",
                    "type": "synonym"
                },
                {
                    "name": "Brn-3c",
                    "type": "synonym"
                },
                {
                    "name": "Brn3.1",
                    "type": "synonym"
                },
                {
                    "name": "Brn3c",
                    "type": "synonym"
                },
                {
                    "name": "Pou4f3",
                    "type": "synonym"
                },
                {
                    "name": "ddl",
                    "type": "synonym"
                },
                {
                    "name": "dreidel",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63955-1",
            "evidence": [
                {
                    "id": "0110546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q15319-1",
            "uniprot_ac": "Q15319",
            "uniprot_id": "PO4F3_HUMAN",
            "refseq_ac": "NP_002691",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "POU domain, class 4, transcription factor 3",
                    "type": "recommended"
                },
                {
                    "name": "Brain-3C",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific homeobox/POU domain protein 3C",
                    "type": "synonym"
                },
                {
                    "name": "Brn-3C",
                    "type": "synonym"
                },
                {
                    "name": "POU domain, class 4, transcription factor 3",
                    "type": "synonym"
                },
                {
                    "name": "brain-3C",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific homeobox/POU domain protein 3C",
                    "type": "synonym"
                },
                {
                    "name": "brn-3C",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 42",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POU4F3",
                    "type": "recommended"
                },
                {
                    "name": "BRN3C",
                    "type": "synonym"
                },
                {
                    "name": "DFNA15",
                    "type": "synonym"
                },
                {
                    "name": "DFNA42",
                    "type": "synonym"
                },
                {
                    "name": "DFNA52",
                    "type": "synonym"
                },
                {
                    "name": "POU4F3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q15319-1",
            "evidence": [
                {
                    "id": "602459",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602459"
                },
                {
                    "id": "0110546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZTL1-1",
            "uniprot_ac": "D3ZTL1",
            "uniprot_id": "PO4F3_RAT",
            "refseq_ac": "NP_001102359",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "POU domain, class 4, transcription factor 3",
                    "type": "recommended"
                },
                {
                    "name": "POU domain, class 4, transcription factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pou4f3",
                    "type": "recommended"
                },
                {
                    "name": "Pou4f3",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZTL1-1",
            "evidence": [
                {
                    "id": "0110546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110546"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P24350-2",
            "uniprot_ac": "P24350",
            "uniprot_id": "IPOU_DROME",
            "refseq_ac": "NP_001014743",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inhibitory POU protein",
                    "type": "recommended"
                },
                {
                    "name": "Abnormal chemosensory jump 6 protein",
                    "type": "synonym"
                },
                {
                    "name": "CG9151-PD",
                    "type": "synonym"
                },
                {
                    "name": "I-POU",
                    "type": "synonym"
                },
                {
                    "name": "abnormal chemosensory jumb",
                    "type": "synonym"
                },
                {
                    "name": "abnormal chemosensory jump 6, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "abnormal chemosensory jump 6",
                    "type": "synonym"
                },
                {
                    "name": "acj6-PD",
                    "type": "synonym"
                },
                {
                    "name": "altered chemosensory jump 6",
                    "type": "synonym"
                },
                {
                    "name": "twin of I-POU",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "acj6",
                    "type": "recommended"
                },
                {
                    "name": "ACJ6",
                    "type": "synonym"
                },
                {
                    "name": "Acj6",
                    "type": "synonym"
                },
                {
                    "name": "CG9151",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9151",
                    "type": "synonym"
                },
                {
                    "name": "I-POU",
                    "type": "synonym"
                },
                {
                    "name": "Ipou",
                    "type": "synonym"
                },
                {
                    "name": "acj6",
                    "type": "synonym"
                },
                {
                    "name": "tI-POU",
                    "type": "synonym"
                }
            ],
            "record_id": "P24350-2",
            "evidence": [
                {
                    "id": "0110546",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110546"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110546"
}