{
    "disease_id": "DOID:0110535",
    "recommended_name": {
        "id": "DOID:0110535",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110535",
        "name": "autosomal recessive nonsyndromic deafness 9",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with usually severe to profound, stable hearing loss and has_material_basis_in mutation in the OTOF gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0110535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110535",
            "name": "DFNB9",
            "description": ""
        },
        {
            "id": "DOID:0110535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110535",
            "name": "NRSD9",
            "description": ""
        },
        {
            "id": "DOID:0110535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110535",
            "name": "autosomal recessive deafness 9",
            "description": ""
        },
        {
            "id": "DOID:0110535",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110535",
            "name": "neurosensory nonsyndromic recessive deafness 9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "autosomal recessive nonsyndromic hearing loss 9",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOF gene."
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "autosomal recessive nonsyndromic hearing loss 9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "DFNB9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "NRSD9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "OTOF autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "auditory neuropathy, autosomal recessive, 1",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "auditory neuropathy, nonsyndromic recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "autosomal recessive deafness 9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "autosomal recessive nonsyndromic deafness 9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in OTOF",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "autosomal recessive nonsyndromic deafness type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "deafness, autosomal recessive 9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "deafness, autosomal recessive type 9",
            "description": ""
        },
        {
            "id": "MONDO:0010986",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "name": "neurosensory nonsyndromic recessive deafness 9",
            "description": ""
        },
        {
            "id": "MIM:601071",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/601071",
            "name": "Auditory neuropathy, autosomal recessive, 1",
            "description": "Auditory neuropathy, autosomal recessive, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110535"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110535",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110535",
            "categories": []
        },
        {
            "id": "MONDO:0010986",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010986",
            "categories": []
        },
        {
            "id": "MIM:601071",
            "database": "MIM",
            "url": "https://www.omim.org/entry/601071",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5SPC5-1",
            "uniprot_ac": "Q5SPC5",
            "uniprot_id": "OTOF_DANRE",
            "refseq_ac": "NP_001025283",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otoferlin",
                    "type": "recommended"
                },
                {
                    "name": "Fer-1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "otoferlin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "otofa",
                    "type": "recommended"
                },
                {
                    "name": "fer1l2",
                    "type": "synonym"
                },
                {
                    "name": "fj34b10",
                    "type": "synonym"
                },
                {
                    "name": "otofa",
                    "type": "synonym"
                },
                {
                    "name": "otof",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-181f18.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj34b10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5SPC5-1",
            "evidence": [
                {
                    "id": "0110535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9P0R6-1",
            "uniprot_ac": "A0A8M9P0R6",
            "uniprot_id": "A0A8M9P0R6_DANRE",
            "refseq_ac": "NP_001429298",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otoferlin",
                    "type": "recommended"
                },
                {
                    "name": "Fer-1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "otoferlin b isoform 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "otofb",
                    "type": "recommended"
                },
                {
                    "name": "otofb",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-50f9.1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P0R6-1",
            "evidence": [
                {
                    "id": "0110535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ESF1-1",
            "uniprot_ac": "Q9ESF1",
            "uniprot_id": "OTOF_MOUSE",
            "refseq_ac": "NP_001093865",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otoferlin",
                    "type": "recommended"
                },
                {
                    "name": "Fer-1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Protein pachanga",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "otoferlin isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "protein pachanga",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Otof",
                    "type": "recommended"
                },
                {
                    "name": "Fer1l2",
                    "type": "synonym"
                },
                {
                    "name": "Otof",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ESF1-1",
            "evidence": [
                {
                    "id": "0110535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9HC10-1",
            "uniprot_ac": "Q9HC10",
            "uniprot_id": "OTOF_HUMAN",
            "refseq_ac": "NP_001274418",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otoferlin",
                    "type": "recommended"
                },
                {
                    "name": "Fer-1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like family member 2",
                    "type": "synonym"
                },
                {
                    "name": "fer-1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "otoferlin isoform e",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OTOF",
                    "type": "recommended"
                },
                {
                    "name": "AUNB1",
                    "type": "synonym"
                },
                {
                    "name": "DFNB6",
                    "type": "synonym"
                },
                {
                    "name": "DFNB9",
                    "type": "synonym"
                },
                {
                    "name": "FER1L2",
                    "type": "synonym"
                },
                {
                    "name": "NSRD9",
                    "type": "synonym"
                },
                {
                    "name": "OTOF",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9HC10-1",
            "evidence": [
                {
                    "id": "601071",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/601071"
                },
                {
                    "id": "0110535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ERC5-1",
            "uniprot_ac": "Q9ERC5",
            "uniprot_id": "OTOF_RAT",
            "refseq_ac": "XP_006239895",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otoferlin",
                    "type": "recommended"
                },
                {
                    "name": "Fer-1-like protein 2",
                    "type": "synonym"
                },
                {
                    "name": "otoferlin isoform X5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Otof",
                    "type": "recommended"
                },
                {
                    "name": "Fer1l2",
                    "type": "synonym"
                },
                {
                    "name": "Otof",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ERC5-1",
            "evidence": [
                {
                    "id": "0110535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110535"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B7Z0E5-1",
            "uniprot_ac": "B7Z0E5",
            "uniprot_id": "B7Z0E5_DROME",
            "refseq_ac": "NP_001137919",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5747-PF",
                    "type": "synonym"
                },
                {
                    "name": "Misfire, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "mfr-PF",
                    "type": "synonym"
                },
                {
                    "name": "misfire, isoform F",
                    "type": "synonym"
                },
                {
                    "name": "otoferlin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mfr",
                    "type": "recommended"
                },
                {
                    "name": "CG5747",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5747",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5747",
                    "type": "synonym"
                },
                {
                    "name": "Otoferlin",
                    "type": "synonym"
                },
                {
                    "name": "mfr",
                    "type": "synonym"
                }
            ],
            "record_id": "B7Z0E5-1",
            "evidence": [
                {
                    "id": "0110535",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110535"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110535"
}