{
    "disease_id": "DOID:0112160",
    "recommended_name": {
        "id": "DOID:0112160",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112160",
        "name": "autosomal dominant nonsyndromic deafness 79",
        "description": "An autosomal dominant nonsyndromic deafness that has_material_basis_in heterozygous mutation in the SCD5 gene on chromosome 4q21.22."
    },
    "synonyms": [
        {
            "id": "DOID:0112160",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112160",
            "name": "DFNA79",
            "description": ""
        },
        {
            "id": "MONDO:0033668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033668",
            "name": "hearing loss, autosomal dominant 79",
            "description": ""
        },
        {
            "id": "MONDO:0033668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033668",
            "name": "DFNA79",
            "description": ""
        },
        {
            "id": "MONDO:0033668",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033668",
            "name": "deafness, autosomal dominant 79",
            "description": ""
        },
        {
            "id": "MIM:619086",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619086",
            "name": "Deafness, autosomal dominant, 79",
            "description": "Deafness, autosomal dominant, 79"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112160"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112160",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112160",
            "categories": []
        },
        {
            "id": "MONDO:0033668",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033668",
            "categories": []
        },
        {
            "id": "MIM:619086",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619086",
            "categories": []
        }
    ],
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        {
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            "uniprot_ac": "F1QG70",
            "uniprot_id": "F1QG70_DANRE",
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                {
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                    "glygen_name": "Zebrafish",
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                }
            ],
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                    "name": "stearoyl-CoA 9-desaturase",
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                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA desaturase",
                    "type": "synonym"
                }
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                {
                    "name": "scd",
                    "type": "recommended"
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                {
                    "name": "SCD1",
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                },
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                    "type": "synonym"
                }
            ],
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                }
            ]
        },
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                }
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                    "name": "stearoyl-CoA 9-desaturase",
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                {
                    "name": "stearoyl-CoA desaturase b isoform X1",
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                }
            ],
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                    "name": "scdb",
                    "type": "recommended"
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                {
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                }
            ],
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        },
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                    "name": "Homo sapiens",
                    "taxid": 9606,
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                }
            ],
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                {
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                    "name": "1.14.19.1",
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                {
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                    "type": "synonym"
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                {
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                    "type": "synonym"
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                    "name": "Stearoyl-CoA desaturase 2",
                    "type": "synonym"
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                    "name": "acyl-CoA-desaturase 4",
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                {
                    "name": "stearoyl-CoA desaturase 4",
                    "type": "synonym"
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                {
                    "name": "stearoyl-CoA desaturase 5 isoform a",
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            ],
            "gene_names": [
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                    "name": "SCD5",
                    "type": "recommended"
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                {
                    "name": "ACOD4",
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                },
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                    "type": "synonym"
                },
                {
                    "name": "FADS4",
                    "type": "synonym"
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                    "name": "HSCD5",
                    "type": "synonym"
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                {
                    "name": "SCD2",
                    "type": "synonym"
                },
                {
                    "name": "SCD4",
                    "type": "synonym"
                },
                {
                    "name": "SCD5",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "619086",
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                },
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                    "id": "0112160",
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                }
            ]
        },
        {
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
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                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "Acyl-CoA desaturase 1",
                    "type": "recommended"
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                {
                    "name": "1.14.19.1",
                    "type": "synonym"
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                {
                    "name": "Delta 9 fatty acid desaturase",
                    "type": "synonym"
                },
                {
                    "name": "Fatty acid desaturase 1",
                    "type": "synonym"
                },
                {
                    "name": "Stearoyl-CoA desaturase 1",
                    "type": "synonym"
                },
                {
                    "name": "stearoyl-CoA 9-desaturase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "OLE1",
                    "type": "recommended"
                },
                {
                    "name": "MDM2",
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                {
                    "name": "OLE1",
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                    "name": "1.14.19.-",
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                    "id": "0112160",
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                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112160"
}
