{
    "disease_id": "DOID:0110584",
    "recommended_name": {
        "id": "DOID:0110584",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110584",
        "name": "autosomal dominant nonsyndromic deafness 6",
        "description": "An autosomal dominant nonsyndromic deafness that is characterized by prelingual onset and low frequency progressive hearing loss and has_material_basis_in mutation in the WFS1 gene on chromosome 4p16."
    },
    "synonyms": [
        {
            "id": "DOID:0110584",
            "resource": "Disease Ontology",
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            "name": "DFNA14",
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        },
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            "id": "DOID:0110584",
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            "url": "https://disease-ontology.org/term/DOID:0110584",
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            "id": "DOID:0110584",
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            "url": "https://disease-ontology.org/term/DOID:0110584",
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            "description": ""
        },
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            "resource": "Disease Ontology",
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            "description": ""
        },
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            "id": "MONDO:0010963",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "autosomal dominant nonsyndromic hearing loss 6",
            "description": "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the WFS1 gene."
        },
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            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
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            "description": ""
        },
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            "id": "MONDO:0010963",
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            "name": "DFNA38",
            "description": ""
        },
        {
            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "DFNA6",
            "description": ""
        },
        {
            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "WFS1 autosomal dominant nonsyndromic deafness",
            "description": ""
        },
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            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "autosomal dominant deafness 14",
            "description": ""
        },
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            "id": "MONDO:0010963",
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            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "autosomal dominant deafness 38",
            "description": ""
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        {
            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "autosomal dominant deafness 6",
            "description": ""
        },
        {
            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "autosomal dominant nonsyndromic deafness 6",
            "description": ""
        },
        {
            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "autosomal dominant nonsyndromic deafness caused by mutation in WFS1",
            "description": ""
        },
        {
            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
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            "description": ""
        },
        {
            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "deafness, autosomal dominant 14",
            "description": ""
        },
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            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
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            "description": ""
        },
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            "id": "MONDO:0010963",
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            "description": ""
        },
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            "name": "deafness, autosomal dominant 6/14/38",
            "description": ""
        },
        {
            "id": "MONDO:0010963",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "name": "deafness, autosomal dominant type 6",
            "description": ""
        },
        {
            "id": "MIM:600965",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600965",
            "name": "Deafness, autosomal dominant, 6",
            "description": "Deafness, autosomal dominant, 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110584"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110584",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110584",
            "categories": []
        },
        {
            "id": "MONDO:0010963",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010963",
            "categories": []
        },
        {
            "id": "MIM:600965",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600965",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8N7TF70-1",
            "uniprot_ac": "A0A8N7TF70",
            "uniprot_id": "A0A8N7TF70_DANRE",
            "refseq_ac": "XP_695252",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wolframin",
                    "type": "synonym"
                },
                {
                    "name": "wolframin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wfs1a",
                    "type": "recommended"
                },
                {
                    "name": "wfs1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8N7TF70-1",
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                    "id": "0110584",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0110584"
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            ]
        },
        {
            "uniprot_canonical_ac": "P56695-1",
            "uniprot_ac": "P56695",
            "uniprot_id": "WFS1_MOUSE",
            "refseq_ac": "NP_035846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Wolframin",
                    "type": "recommended"
                },
                {
                    "name": "Wolfram syndrome 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "Wolfram syndrome 1 protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "wolframin",
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            ],
            "gene_names": [
                {
                    "name": "Wfs1",
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                },
                {
                    "name": "Wfs1",
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                },
                {
                    "name": "wolframin",
                    "type": "synonym"
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            ]
        },
        {
            "uniprot_canonical_ac": "O76024-1",
            "uniprot_ac": "O76024",
            "uniprot_id": "WFS1_HUMAN",
            "refseq_ac": "NP_001139325",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                    "name": "Wolframin",
                    "type": "recommended"
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                    "name": "Wolfram syndrome 1 (wolframin)",
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                    "type": "synonym"
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            ],
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                {
                    "name": "WFS1",
                    "type": "recommended"
                },
                {
                    "name": "CTRCT41",
                    "type": "synonym"
                },
                {
                    "name": "WFRS",
                    "type": "synonym"
                },
                {
                    "name": "WFS1",
                    "type": "synonym"
                },
                {
                    "name": "WFSL",
                    "type": "synonym"
                },
                {
                    "name": "WFS",
                    "type": "synonym"
                }
            ],
            "record_id": "O76024-1",
            "evidence": [
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                    "id": "600965",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600965"
                },
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                    "id": "0110584",
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            ]
        },
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            "uniprot_canonical_ac": "E9PT53-1",
            "uniprot_ac": "E9PT53",
            "uniprot_id": "E9PT53_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Wolframin",
                    "type": "recommended"
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            "uniprot_canonical_ac": "Q8IMZ9-1",
            "uniprot_ac": "Q8IMZ9",
            "uniprot_id": "WFS1_DROME",
            "refseq_ac": "NP_001189267",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
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                    "name": "Wolframin",
                    "type": "recommended"
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                {
                    "name": "CG4917-PC",
                    "type": "synonym"
                },
                {
                    "name": "wfs1-PC",
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                },
                {
                    "name": "wolfram syndrome 1, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "wfs1",
                    "type": "recommended"
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                {
                    "name": "CG4917",
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                },
                {
                    "name": "Dmel\\CG4917",
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                },
                {
                    "name": "WFS1",
                    "type": "synonym"
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                {
                    "name": "wfs1",
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            "record_id": "Q8IMZ9-1",
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                    "id": "0110584",
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110584"
}