{
    "disease_id": "DOID:0111737",
    "recommended_name": {
        "id": "DOID:0111737",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111737",
        "name": "X-linked deafness 2",
        "description": "An X-linked nonsyndromic deafness characterized by progressive conductive and sensorineural hearing loss and pathognomonic inner ear anomalies that has_material_basis_in hemizygous or homozygous mutation in POU3F4 or upstream regulatory elements of this gene on chromosome Xq21.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "X-linked sensorineural deafness",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "X-linked mixed conductive and neurosensory hearing loss",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "X-linked mixed conductive and sensorineural deafness",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "DFN3",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "DFNX2",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "Nance deafness",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "X-linked mixed conductive and sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "X-linked deafness type 2",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "X-linked stapes gusher syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "conductive deafness 3 with stapes fixation",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "conductive deafness with stapes fixation",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "mixed deafness with perilymphatic gusher",
            "description": ""
        },
        {
            "id": "DOID:0111737",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "name": "X-linked mixed conductive and neurosensory deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "X-linked mixed hearing loss with perilymphatic gusher",
            "description": "X-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafnesss affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss."
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "central hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "high frequency deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "high frequency hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "high-frequency hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "perceptive deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "perceptive hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "perceptive hearing loss or deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "sensorineural hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "sensory hearing loss",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "DFNX2",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "X-linked mixed hearing loss with perilymphatic gusher",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "Nance deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "X-linked deafness type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "X-linked mixed conductive and neurosensory deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "X-linked mixed conductive and sensorineural deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "X-linked mixed deafness with perilymphatic gusher",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "conductive deafness with stapes fixation",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "deafness mixed with perilymphatic gusher, X-linked",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "deafness, X-linked 2, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "deafness, X-linked type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "DFN 3 nonsyndromic hearing loss and deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "DFN3",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "deafness 3 conductive with stapes fixation",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "deafness conductive with stapes fixation",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "deafness mixed with perilymphatic gusher",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "deafness, X-linked 2",
            "description": ""
        },
        {
            "id": "MONDO:0010576",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "name": "gusher syndrome",
            "description": ""
        },
        {
            "id": "MIM:304400",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/304400",
            "name": "Deafness, X-linked, 2",
            "description": "Deafness, X-linked, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111737"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111737",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111737",
            "categories": []
        },
        {
            "id": "MONDO:0010576",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010576",
            "categories": []
        },
        {
            "id": "MIM:304400",
            "database": "MIM",
            "url": "https://www.omim.org/entry/304400",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P62515-1",
            "uniprot_ac": "P62515",
            "uniprot_id": "PO3F4_MOUSE",
            "refseq_ac": "NP_032927",
            "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 3, transcription factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Brain-4",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific homeobox/POU domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Brn-4",
                    "type": "synonym"
                },
                {
                    "name": "OTF-9",
                    "type": "synonym"
                },
                {
                    "name": "Oct-9",
                    "type": "synonym"
                },
                {
                    "name": "Octamer-binding protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Octamer-binding transcription factor 9",
                    "type": "synonym"
                },
                {
                    "name": "POU domain, class 3, transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "brain-4 class III POU-domain protein",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific homeobox/POU domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "octamer-binding protein 9",
                    "type": "synonym"
                },
                {
                    "name": "octamer-binding transcription factor 9",
                    "type": "synonym"
                },
                {
                    "name": "sex linked fidget",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pou3f4",
                    "type": "recommended"
                },
                {
                    "name": "Brn-4",
                    "type": "synonym"
                },
                {
                    "name": "Brn4",
                    "type": "synonym"
                },
                {
                    "name": "OTF-9",
                    "type": "synonym"
                },
                {
                    "name": "Otf9",
                    "type": "synonym"
                },
                {
                    "name": "Pou3f4",
                    "type": "synonym"
                },
                {
                    "name": "Slf",
                    "type": "synonym"
                },
                {
                    "name": "oct-9",
                    "type": "synonym"
                }
            ],
            "record_id": "P62515-1",
            "evidence": [
                {
                    "id": "0111737",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111737"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P49335-1",
            "uniprot_ac": "P49335",
            "uniprot_id": "PO3F4_HUMAN",
            "refseq_ac": "NP_000298",
            "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 3, transcription factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Brain-4",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific homeobox/POU domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Brn-4",
                    "type": "synonym"
                },
                {
                    "name": "OTF-9",
                    "type": "synonym"
                },
                {
                    "name": "Oct-9",
                    "type": "synonym"
                },
                {
                    "name": "Octamer-binding protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Octamer-binding transcription factor 9",
                    "type": "synonym"
                },
                {
                    "name": "POU domain, class 3, transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific homeobox/POU domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "octamer-binding transcription factor 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "POU3F4",
                    "type": "recommended"
                },
                {
                    "name": "BRAIN-4",
                    "type": "synonym"
                },
                {
                    "name": "BRN-4",
                    "type": "synonym"
                },
                {
                    "name": "BRN4",
                    "type": "synonym"
                },
                {
                    "name": "DFN3",
                    "type": "synonym"
                },
                {
                    "name": "DFNX2",
                    "type": "synonym"
                },
                {
                    "name": "OCT-9",
                    "type": "synonym"
                },
                {
                    "name": "OTF-9",
                    "type": "synonym"
                },
                {
                    "name": "OTF9",
                    "type": "synonym"
                },
                {
                    "name": "POU3F4",
                    "type": "synonym"
                }
            ],
            "record_id": "P49335-1",
            "evidence": [
                {
                    "id": "304400",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/304400"
                },
                {
                    "id": "0111737",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111737"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P62516-1",
            "uniprot_ac": "P62516",
            "uniprot_id": "PO3F4_RAT",
            "refseq_ac": "NP_058948",
            "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 3, transcription factor 4",
                    "type": "recommended"
                },
                {
                    "name": "Brain-4",
                    "type": "synonym"
                },
                {
                    "name": "Brain-specific homeobox/POU domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Brn-4",
                    "type": "synonym"
                },
                {
                    "name": "OTF-9",
                    "type": "synonym"
                },
                {
                    "name": "Oct-9",
                    "type": "synonym"
                },
                {
                    "name": "Octamer-binding protein 9",
                    "type": "synonym"
                },
                {
                    "name": "Octamer-binding transcription factor 9",
                    "type": "synonym"
                },
                {
                    "name": "POU domain, class 3, transcription factor 4",
                    "type": "synonym"
                },
                {
                    "name": "RHS2 class III POU protein",
                    "type": "synonym"
                },
                {
                    "name": "brain-4",
                    "type": "synonym"
                },
                {
                    "name": "brain-specific homeobox/POU domain protein 4",
                    "type": "synonym"
                },
                {
                    "name": "brn-4",
                    "type": "synonym"
                },
                {
                    "name": "oct-9",
                    "type": "synonym"
                },
                {
                    "name": "octamer-binding protein 9",
                    "type": "synonym"
                },
                {
                    "name": "octamer-binding transcription factor 9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pou3f4",
                    "type": "recommended"
                },
                {
                    "name": "Brn-4",
                    "type": "synonym"
                },
                {
                    "name": "Brn4",
                    "type": "synonym"
                },
                {
                    "name": "Otf9",
                    "type": "synonym"
                },
                {
                    "name": "Pou3f4",
                    "type": "synonym"
                },
                {
                    "name": "RHS2",
                    "type": "synonym"
                }
            ],
            "record_id": "P62516-1",
            "evidence": [
                {
                    "id": "0111737",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111737"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16241-1",
            "uniprot_ac": "P16241",
            "uniprot_id": "CF1A_DROME",
            "refseq_ac": "NP_001286957",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "POU domain protein CF1A",
                    "type": "recommended"
                },
                {
                    "name": "CF1-A",
                    "type": "synonym"
                },
                {
                    "name": "CG10037-PD",
                    "type": "synonym"
                },
                {
                    "name": "Chorion factor 1A",
                    "type": "synonym"
                },
                {
                    "name": "Drifter/Ventral veinless",
                    "type": "synonym"
                },
                {
                    "name": "PRD gene 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein drifter",
                    "type": "synonym"
                },
                {
                    "name": "U-turned",
                    "type": "synonym"
                },
                {
                    "name": "Ventral veins lacking protein",
                    "type": "synonym"
                },
                {
                    "name": "drifter",
                    "type": "synonym"
                },
                {
                    "name": "paired-like 3",
                    "type": "synonym"
                },
                {
                    "name": "separated",
                    "type": "synonym"
                },
                {
                    "name": "u-turn",
                    "type": "synonym"
                },
                {
                    "name": "ventral veinless",
                    "type": "synonym"
                },
                {
                    "name": "ventral veins lacking, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "ventral veins lacking",
                    "type": "synonym"
                },
                {
                    "name": "vvl-PD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vvl",
                    "type": "recommended"
                },
                {
                    "name": "CF1A",
                    "type": "synonym"
                },
                {
                    "name": "CG10037",
                    "type": "synonym"
                },
                {
                    "name": "Cf1-a",
                    "type": "synonym"
                },
                {
                    "name": "Cf1a/drifter/vvl",
                    "type": "synonym"
                },
                {
                    "name": "Cf1a/drifter",
                    "type": "synonym"
                },
                {
                    "name": "Cf1a",
                    "type": "synonym"
                },
                {
                    "name": "Cfla",
                    "type": "synonym"
                },
                {
                    "name": "DFR",
                    "type": "synonym"
                },
                {
                    "name": "Dfr/Vvl",
                    "type": "synonym"
                },
                {
                    "name": "Dfr",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10037",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10037",
                    "type": "synonym"
                },
                {
                    "name": "Drf",
                    "type": "synonym"
                },
                {
                    "name": "VVL",
                    "type": "synonym"
                },
                {
                    "name": "Vv1",
                    "type": "synonym"
                },
                {
                    "name": "Vvl",
                    "type": "synonym"
                },
                {
                    "name": "dfr-vvl",
                    "type": "synonym"
                },
                {
                    "name": "dfr/vvl",
                    "type": "synonym"
                },
                {
                    "name": "dfr",
                    "type": "synonym"
                },
                {
                    "name": "drf",
                    "type": "synonym"
                },
                {
                    "name": "drifter",
                    "type": "synonym"
                },
                {
                    "name": "prd3",
                    "type": "synonym"
                },
                {
                    "name": "sep",
                    "type": "synonym"
                },
                {
                    "name": "ut",
                    "type": "synonym"
                },
                {
                    "name": "vvl/dfr/ut",
                    "type": "synonym"
                },
                {
                    "name": "vvl/dfr",
                    "type": "synonym"
                },
                {
                    "name": "vvl",
                    "type": "synonym"
                }
            ],
            "record_id": "P16241-1",
            "evidence": [
                {
                    "id": "0111737",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111737"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111737"
}