{
    "disease_id": "DOID:0110520",
    "recommended_name": {
        "id": "DOID:0110520",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0110520",
        "name": "autosomal recessive nonsyndromic deafness 7",
        "description": "An autosomal recessive nonsyndromic deafness that is characterized by prelingual onset with severe to profound, stable hearing loss and has_material_basis_in mutation in the TMC1 gene on chromosome 9q21."
    },
    "synonyms": [
        {
            "id": "DOID:0110520",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110520",
            "name": "DFNB11",
            "description": ""
        },
        {
            "id": "DOID:0110520",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110520",
            "name": "DFNB7",
            "description": ""
        },
        {
            "id": "DOID:0110520",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110520",
            "name": "autosomal recessive deafness 7",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "autosomal recessive nonsyndromic hearing loss 7",
            "description": "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene."
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "autosomal recessive nonsyndromic hearing loss 7",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "DFNB11",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "DFNB7",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "TMC1 autosomal recessive nonsyndromic deafness",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "autosomal recessive deafness 7",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "autosomal recessive nonsyndromic deafness 7",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "autosomal recessive nonsyndromic deafness caused by mutation in TMC1",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "autosomal recessive nonsyndromic deafness type 7",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "deafness, autosomal recessive 11",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "deafness, autosomal recessive 7",
            "description": ""
        },
        {
            "id": "MONDO:0010967",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "name": "deafness, autosomal recessive type 7",
            "description": ""
        },
        {
            "id": "MIM:600974",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/600974",
            "name": "Deafness, autosomal recessive, 7",
            "description": "Deafness, autosomal recessive, 7"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0110520"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0110520",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0110520",
            "categories": []
        },
        {
            "id": "MONDO:0010967",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010967",
            "categories": []
        },
        {
            "id": "MIM:600974",
            "database": "MIM",
            "url": "https://www.omim.org/entry/600974",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QFU0-1",
            "uniprot_ac": "F1QFU0",
            "uniprot_id": "TMC1_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane channel-like protein 1",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "tmc1",
                    "type": "recommended"
                },
                {
                    "name": "si:229d2.1",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-229d2.1",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QFU0-1",
            "evidence": [
                {
                    "id": "0110520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110520"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R4P5-1",
            "uniprot_ac": "Q8R4P5",
            "uniprot_id": "TMC1_MOUSE",
            "refseq_ac": "NP_083229",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane channel-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Beethoven protein",
                    "type": "synonym"
                },
                {
                    "name": "Deafness protein",
                    "type": "synonym"
                },
                {
                    "name": "Transmembrane cochlear-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "deafness protein",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane channel-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane channel-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane cochlear-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane, cochlear expressed 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmc1",
                    "type": "recommended"
                },
                {
                    "name": "4933416G09Rik",
                    "type": "synonym"
                },
                {
                    "name": "Beethoven",
                    "type": "synonym"
                },
                {
                    "name": "Bth",
                    "type": "synonym"
                },
                {
                    "name": "CWEA1",
                    "type": "synonym"
                },
                {
                    "name": "TMC1ex1",
                    "type": "synonym"
                },
                {
                    "name": "Tmc1",
                    "type": "synonym"
                },
                {
                    "name": "dn",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R4P5-1",
            "evidence": [
                {
                    "id": "0110520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110520"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TDI8-1",
            "uniprot_ac": "Q8TDI8",
            "uniprot_id": "TMC1_HUMAN",
            "refseq_ac": "NP_619636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane channel-like protein 1",
                    "type": "recommended"
                },
                {
                    "name": "Transmembrane cochlear-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane channel-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane cochlear-expressed protein 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane, cochlear expressed, 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TMC1",
                    "type": "recommended"
                },
                {
                    "name": "DFNA36",
                    "type": "synonym"
                },
                {
                    "name": "DFNB11",
                    "type": "synonym"
                },
                {
                    "name": "DFNB7",
                    "type": "synonym"
                },
                {
                    "name": "TMC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TDI8-1",
            "evidence": [
                {
                    "id": "600974",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/600974"
                },
                {
                    "id": "0110520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110520"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A096MKC4-1",
            "uniprot_ac": "A0A096MKC4",
            "uniprot_id": "A0A096MKC4_RAT",
            "refseq_ac": "NP_001428430",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane channel-like protein",
                    "type": "recommended"
                },
                {
                    "name": "transmembrane channel-like gene family 1",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane channel-like protein 1 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane channel-like protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmc1",
                    "type": "recommended"
                },
                {
                    "name": "Tmc1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A096MKC4-1",
            "evidence": [
                {
                    "id": "0110520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110520"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0U1QT59-1",
            "uniprot_ac": "A0A0U1QT59",
            "uniprot_id": "TMC_DROME",
            "refseq_ac": "NP_001303362",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transmembrane channel-like protein",
                    "type": "recommended"
                },
                {
                    "name": "CG46121-PC",
                    "type": "synonym"
                },
                {
                    "name": "Tmc-PC",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane channel-like, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane channel-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tmc",
                    "type": "recommended"
                },
                {
                    "name": "CG14177",
                    "type": "synonym"
                },
                {
                    "name": "CG3280",
                    "type": "synonym"
                },
                {
                    "name": "CG46121",
                    "type": "synonym"
                },
                {
                    "name": "DmTMC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG46121",
                    "type": "synonym"
                },
                {
                    "name": "TMC",
                    "type": "synonym"
                },
                {
                    "name": "Tic",
                    "type": "synonym"
                },
                {
                    "name": "Tmc-L",
                    "type": "synonym"
                },
                {
                    "name": "Tmc",
                    "type": "synonym"
                },
                {
                    "name": "dTmc",
                    "type": "synonym"
                },
                {
                    "name": "tmc",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0U1QT59-1",
            "evidence": [
                {
                    "id": "0110520",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0110520"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0110520"
}