{
    "disease_id": "DOID:0110474",
    "recommended_name": {
        "id": "DOID:0110474",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110474",
        "name": "autosomal recessive nonsyndromic deafness 18B",
        "description": "An autosomal recessive nonsyndromic deafness that has_material_basis_in mutation in the OTOG gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0110474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110474",
            "name": "DFNB18B",
            "description": ""
        },
        {
            "id": "DOID:0110474",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110474",
            "name": "autosomal recessive deafness 18B",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "autosomal recessive nonsyndromic hearing loss 18B",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene."
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "autosomal recessive nonsyndromic hearing loss 18B",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "DFNB18B",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "OTOG autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "autosomal recessive deafness 18B",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "autosomal recessive nonsyndromic deafness 18B",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in OTOG",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "autosomal recessive nonsyndromic deafness type 18B",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "deafness, autosomal recessive 18B",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "deafness, autosomal recessive 18b",
            "description": ""
        },
        {
            "id": "MONDO:0013985",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "name": "deafness, autosomal recessive type 18B",
            "description": ""
        },
        {
            "id": "MIM:614945",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614945",
            "name": "Deafness, autosomal recessive, 18B",
            "description": "Deafness, autosomal recessive, 18B"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110474"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110474",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110474",
            "categories": []
        },
        {
            "id": "MONDO:0013985",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013985",
            "categories": []
        },
        {
            "id": "MIM:614945",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614945",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0AC58G5C7-1",
            "uniprot_ac": "A0AC58G5C7",
            "uniprot_id": "A0AC58G5C7_DANRE",
            "refseq_ac": "XP_073764935",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otogelin isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "otogelin isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "otog",
                    "type": "recommended"
                },
                {
                    "name": "otog",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AC58G5C7-1",
            "evidence": [
                {
                    "id": "0110474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O55225-1",
            "uniprot_ac": "O55225",
            "uniprot_id": "OTOG_MOUSE",
            "refseq_ac": "NP_038652",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otogelin",
                    "type": "recommended"
                },
                {
                    "name": "otogelin precursor",
                    "type": "synonym"
                },
                {
                    "name": "twister",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Otog",
                    "type": "recommended"
                },
                {
                    "name": "4932420K09",
                    "type": "synonym"
                },
                {
                    "name": "Otgn",
                    "type": "synonym"
                },
                {
                    "name": "Otog",
                    "type": "synonym"
                },
                {
                    "name": "twt",
                    "type": "synonym"
                }
            ],
            "record_id": "O55225-1",
            "evidence": [
                {
                    "id": "0110474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZRI0-1",
            "uniprot_ac": "Q6ZRI0",
            "uniprot_id": "OTOG_HUMAN",
            "refseq_ac": "NP_001264198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otogelin",
                    "type": "recommended"
                },
                {
                    "name": "otogelin isoform a precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OTOG",
                    "type": "recommended"
                },
                {
                    "name": "DFNB18B",
                    "type": "synonym"
                },
                {
                    "name": "MLEMP",
                    "type": "synonym"
                },
                {
                    "name": "OTGN",
                    "type": "synonym"
                },
                {
                    "name": "OTOG",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZRI0-1",
            "evidence": [
                {
                    "id": "614945",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614945"
                },
                {
                    "id": "0110474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZCV6-1",
            "uniprot_ac": "D3ZCV6",
            "uniprot_id": "D3ZCV6_RAT",
            "refseq_ac": "NP_001099732",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Otogelin",
                    "type": "recommended"
                },
                {
                    "name": "otogelin precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Otog",
                    "type": "recommended"
                },
                {
                    "name": "Otog",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZCV6-1",
            "evidence": [
                {
                    "id": "0110474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110474"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VU94-1",
            "uniprot_ac": "Q9VU94",
            "uniprot_id": "Q9VU94_DROME",
            "refseq_ac": "NP_524060",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7002-PA",
                    "type": "synonym"
                },
                {
                    "name": "Hemolectin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Hml-PA",
                    "type": "synonym"
                },
                {
                    "name": "hemolectin, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "hemolectin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hml",
                    "type": "recommended"
                },
                {
                    "name": "CG7002",
                    "type": "synonym"
                },
                {
                    "name": "CT21553",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7002",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7002",
                    "type": "synonym"
                },
                {
                    "name": "Hml",
                    "type": "synonym"
                },
                {
                    "name": "d-hml",
                    "type": "synonym"
                },
                {
                    "name": "hml",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VU94-1",
            "evidence": [
                {
                    "id": "0110474",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110474"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110474"
}