{
    "disease_id": "DOID:0110588",
    "recommended_name": {
        "id": "DOID:0110588",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110588",
        "name": "autosomal dominant nonsyndromic deafness 67",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in mutation in the OSBPL2 gene on chromosome 20q13."
    },
    "synonyms": [
        {
            "id": "DOID:0110588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110588",
            "name": "DFNA67",
            "description": ""
        },
        {
            "id": "DOID:0110588",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110588",
            "name": "autosomal dominant deafness 67",
            "description": ""
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "autosomal dominant nonsyndromic hearing loss 67",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene."
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "DFNA67",
            "description": ""
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "OSBPL2 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "autosomal dominant deafness 67",
            "description": ""
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "autosomal dominant nonsyndromic deafness 67",
            "description": ""
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2",
            "description": ""
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "autosomal dominant nonsyndromic deafness type 67",
            "description": ""
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "deafness, autosomal dominant 67",
            "description": ""
        },
        {
            "id": "MONDO:0014594",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "name": "deafness, autosomal dominant type 67",
            "description": ""
        },
        {
            "id": "MIM:616340",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616340",
            "name": "Deafness, autosomal dominant, 67",
            "description": "Deafness, autosomal dominant, 67"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110588"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110588",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110588",
            "categories": []
        },
        {
            "id": "MONDO:0014594",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014594",
            "categories": []
        },
        {
            "id": "MIM:616340",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616340",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0A8M2B8V1",
            "uniprot_id": "A0A8M2B8V1_DANRE",
            "refseq_ac": "XP_005162004",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oxysterol-binding protein",
                    "type": "recommended"
                },
                {
                    "name": "oxysterol-binding protein-related protein 2b isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "osbpl2b",
                    "type": "recommended"
                },
                {
                    "name": "Osbpl1a",
                    "type": "synonym"
                },
                {
                    "name": "osbpl2b",
                    "type": "synonym"
                },
                {
                    "name": "osbpl2",
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                },
                {
                    "name": "wu:fi36a04",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55948",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0110588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110588"
                }
            ]
        },
        {
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                {
                    "name": "Danio rerio",
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                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                {
                    "name": "Oxysterol-binding protein",
                    "type": "recommended"
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                {
                    "name": "oxysterol-binding protein-related protein 2",
                    "type": "synonym"
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            ],
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                    "name": "osbpl2a",
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                {
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            ],
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                    "id": "0110588",
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            ]
        },
        {
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            "uniprot_ac": "Q8BX94",
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            "refseq_ac": "NP_653083",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Oxysterol-binding protein-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ORP-2",
                    "type": "synonym"
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                {
                    "name": "OSBP-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol-binding protein-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Osbpl2",
                    "type": "recommended"
                },
                {
                    "name": "C130070J12Rik",
                    "type": "synonym"
                },
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                    "name": "ORP-2",
                    "type": "synonym"
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                {
                    "name": "Orp2",
                    "type": "synonym"
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                {
                    "name": "Osbpl2",
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                }
            ],
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                {
                    "id": "0110588",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H1P3-1",
            "uniprot_ac": "Q9H1P3",
            "uniprot_id": "OSBL2_HUMAN",
            "refseq_ac": "NP_055650",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oxysterol-binding protein-related protein 2",
                    "type": "recommended"
                },
                {
                    "name": "ORP-2",
                    "type": "synonym"
                },
                {
                    "name": "OSBP-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol-binding protein-related protein 2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol-binding protein-related protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OSBPL2",
                    "type": "recommended"
                },
                {
                    "name": "DFNA67",
                    "type": "synonym"
                },
                {
                    "name": "DIDA",
                    "type": "synonym"
                },
                {
                    "name": "DNFA67",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0772",
                    "type": "synonym"
                },
                {
                    "name": "ORP-2",
                    "type": "synonym"
                },
                {
                    "name": "ORP2",
                    "type": "synonym"
                },
                {
                    "name": "OSBPL2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H1P3-1",
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                {
                    "id": "616340",
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                },
                {
                    "id": "0110588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110588"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q12451-1",
            "uniprot_ac": "Q12451",
            "uniprot_id": "OSH2_YEAST",
            "refseq_ac": "NP_010265",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Oxysterol-binding protein homolog 2",
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                {
                    "name": "OSBP-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol-binding protein-related protein 2",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol-binding protein related protein OSH2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "OSH2",
                    "type": "recommended"
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                {
                    "name": "D2845",
                    "type": "synonym"
                },
                {
                    "name": "OSH2",
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                }
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                {
                    "id": "0110588",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "P35844-1",
            "uniprot_ac": "P35844",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
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                }
            ],
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                {
                    "name": "Oxysterol-binding protein homolog 4",
                    "type": "recommended"
                },
                {
                    "name": "Bypass SECl4 recessive protein 3",
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                },
                {
                    "name": "KRE11-1 suppressor protein 1",
                    "type": "synonym"
                },
                {
                    "name": "ORP 4",
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                {
                    "name": "OSBP-related protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol-binding protein-related protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Protein KES1",
                    "type": "synonym"
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                {
                    "name": "oxysterol-binding protein KES1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
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                    "name": "KES1",
                    "type": "recommended"
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                {
                    "name": "BSR3",
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                {
                    "name": "KES1",
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                {
                    "name": "LPI3C",
                    "type": "synonym"
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                {
                    "name": "LPI3",
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                {
                    "name": "OSH4",
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                {
                    "name": "P2614",
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                    "id": "0110588",
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        {
            "uniprot_canonical_ac": "P35843-1",
            "uniprot_ac": "P35843",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                }
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                    "name": "Oxysterol-binding protein homolog 5",
                    "type": "recommended"
                },
                {
                    "name": "Homologous to KES1 protein 1",
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                {
                    "name": "ORP 5",
                    "type": "synonym"
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                {
                    "name": "OSBP-related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol-binding protein-related protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Protein HES1",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol-binding protein related protein HES1",
                    "type": "synonym"
                }
            ],
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                    "name": "HES1",
                    "type": "recommended"
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                {
                    "name": "HES1",
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                },
                {
                    "name": "O5234",
                    "type": "synonym"
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                {
                    "name": "OSH5",
                    "type": "synonym"
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                    "id": "0110588",
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            "refseq_ac": "",
            "glycoprotein": "no",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Oxysterol-binding protein",
                    "type": "recommended"
                }
            ],
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                {
                    "name": "Osbpl2",
                    "type": "recommended"
                }
            ],
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                {
                    "id": "0110588",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110588"
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        {
            "uniprot_canonical_ac": "A0A0B4LGH8-1",
            "uniprot_ac": "A0A0B4LGH8",
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            "refseq_ac": "NP_001286802",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                    "name": "Oxysterol-binding protein",
                    "type": "recommended"
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                {
                    "name": "CG3860-PB",
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                {
                    "name": "uncharacterized protein, isoform B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dmel\\CG3860",
                    "type": "recommended"
                },
                {
                    "name": "CG3860",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3860",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3860",
                    "type": "synonym"
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            ],
            "record_id": "A0A0B4LGH8-1",
            "evidence": [
                {
                    "id": "0110588",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110588"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110588"
}